journal of the iap karnataka state branch - citeseerx

Karnataka Paediatric Journal Vol. 25, No. 2 Apr. - June 2011

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Karnataka Paediatric Journal Vol. 25, No. 2 Quarterly ; Apr. - June 2011

Journal of the IAP

Karnataka State BranchCONTENTS

1. Minutes of the 2nd Executive Committee meeting of IAP-KSB 2011 held on 31-07-2011 3

2. APPROACH TO MANAGEMENT OF SECONDARY HYPERTENSION IN CHILDREN 4Vikram Singhal, Sucheta Rao, Nutan Kamath

3. OLIVOPONTOCEREBELLAR ATROPHY �A RARE NEUROLOGICAL DISORDER. 9Dr. Georgia, Dr.K.Shreedhara Avabratha, Dr.Habib Khan,Dr.B.Sanjeeva Rai, Dr.B Suresh

4. SMALL VESSEL VASCULITIS OF CENTRAL NERVOUS SYSTEM PRESENTING AS 12REFRACTORY FOCAL SEIZURES-A CASE REPORTPoppy Chadda, K Shreedhara Avabratha,Habib Khan,B.Sanjeev Rai and H B Suresh

5. RARE ASSOCIATION 0F POLAND�S SYNDROME WITH DEXTROCARDIA 15Dr. N.Rashmi; Dr. Narayanappa.D

6. A RARE BLISTERING DISEASE IN A NEWBORN 17James Daniel S, K Shreedhara Avabratha, Elizabeth Varkey Cherian, B Sanjeev Rai, Ramesh Bhat

7. STEVENS-JOHNSON SYNDROME��A CASE REPORT 20Dr. R.K. Jagadish Kumar, Dr. H.C. Krishna Kumar, Dr. Pawan Kumar, Dr. V.G. Manjunath, Dr. S. Mamatha

8. CASE REPORT - BIOTINIDASE DEFICIENCY IN INFANCY 24Dr.Rajashekar Murthy G.V , Dr Sanjay K.S. , Dr.Bharath Kumar Reddy K.R.

9. CASE REPORT: SCHIZENCEPHALY TYPE I � A CAUSE FOR STROKE IN CHILDREN 26Dr Sanjay K.S, Dr Rajashekar Murthy G, Dr Bharath Kumar Reddy K.R

10. NEONATAL POLYCYTHEMIA �A HOSPITAL BASED STUDY 28Dr.Narayanappa.D, Dr.N.Rashmi, Dr.Mohan B.K

11. CONGENITAL EMPHYSEMA: A CASE REPORT 34Roopa.Mangshetty. Sharangouda Patil. Shrikanth.S.W. Hosgouda K

12. HYPOTHYROIDISM & NEPHROTIC SYNDROME � A CAUSE OR EFFECT ? 36Nithya T, B Sanjeev Rai, Habib Ullah Khan, Aby Dany Varghese

13. COMMON PITFALLS IN DIAGNOSING RENAL PROBLEMS IN CHILDREN - Dr Arpana Iyengar 38

14. EVALUATION OF A CHILD WITH POLYURIA - Dr. Nagamani Agarwal 40

15. APPROACH TO ANTENATALLY DETECTED HYDRONEPHROSIS - Dr. R. Premalatha 42

EDITORIAL BOARD

EDITOR : EDITORIAL OFFICEDR. B. SANJEEV RAI Medicare Centre

Karangalpady, Mangalore - 575 003Ph : (0824) 2238399 (O),Fax : (0824) 2430361E-mail : [email protected]. : 94481-33494

MEMBERS :DR. HABEEB KHAN DR. PUSHPA KINI DR. SUDARSHAN SDR. RAMANATH MAHALE DR. SANTHOSH SOANS DR.KARUNAKAR BPDR. SUBRAMANYA NK

PAGE No.


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INDIAN ACADEMY OF PEDIATRICSKarnataka State Branch

Society Reg No: EKM – S460-2006-2007

OFFICE BEARERS FOR THE YEAR 2011

President Secretary Treasurer President ElectDr. R.T. Patil Dr. Ashok V. Badakali Dr. P. Subba Rao Dr.Suresh Babu

Bagalkot Mob: 9845365795 Bagalkot Mob: 9880227403 Magalore Mob: 9845872653 Davangere Mob: 9844096775

Historian Joint Secretary Editor K.P.J.Dr. Santosh Soans Dr. Pavan Hegde Dr. B. Sanjeev Rai.

Mangalore. Mob: 9343565558 Mangalore. Mob: 9845088116 Mangalore. Mob :9448133494

Executive Board MembersBagalkot : Dr. R. N. VanakiBangaluru : Dr. Basavaraj G. V.Belgaum : Dr. Shailesh PatilBellary : Dr. Kailash SoniBidar : Dr. Somashekhar BhalkeBijapur : Dr. M. M. PatilChikkamangalur : Dr. SundareshChitradurga : Dr. NatrajDakshina Kannada : Dr. Prasad NaikDavanagere : Dr. Naveen NadigDharwad : Dr. SudhindraGadag : Dr. Vijay NeelgundHassan : Dr. DineshKodagu : Dr. KrishnanandHaveri : Dr. Rajkumar MarolKolar : Dr. J. KrishnappaKollegal : Dr. Sridhar M.Koppal : Dr. Anand KumarMandya : Dr. NarendrababuMysore : Dr. Shrinivas MurthyRaichur : Dr. BalasubramanyaShimoga : Dr. Deepak ChirdoniTumkur : Dr. ShivaprakashUdupi : Dr. ShrikiranUttar Kannada : Dr. Dinesh HegdeCentral Council Executive Board MembersDr. Devraj Raichur. Mob : 9449864828Dr. Karunakar B.P. Mob : 9845263322Dr. Dinesh S.R. Mob : 9448006166Zonal CoordinatorsBangaluru : Dr. Subramanya N. KDharwad : Dr. Vijay KulkarniGulbarga : Dr. Arundathi PatilDavanagere : Dr. Deepak ChirdoniMysore : Dr. NarayanappaEx – Officio’sDr. K. DoddegowdaDr. S. R. Dinesh


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Minutes of the 2nd Executive Committee meeting of

IAP-KSB 2011 held on 31-07-2011

The second EC meeting of IAP-KSB was held in Hotel Atriya, Bangaluru on 31th July

2011 during the 29th Annual CME programme of Lakeside Education Trust. Around 36

members were present.

The President Dr. R. T. Patil chaired the meeting and Dr. Ashok Badakali took the

charge of the proceeding of the meeting. Dr. R.T. Patil welcomed the office beares of IAP-KSB.

Dr. Ashok Badakali read the minutes of the last EC meeting held on 13.03.2011 at

Mangalore. Dr. T.U. Sukumaran National President of IAP was also present during the

meeting and seeked the members to conduct more academic activities and register under

family benefit scheme. Dr. (Smt) Mahantishetty N.S. state co-ordinator for NRP programme

briefed and requested zonal co-ordinator, district co-ordinator and trainer of trainers (TOT�s)

to conduct the Basic Neonatal Resuscitation Provider course in each districts as to fulfill the

IAP president�s action plan for the year 2011. Dr. Ashok Badakali read out various sub

committees. Dr. Gyanmurty and Dr. Basavaraj expressed tenure of sub committees should be

five years however all members expressed tenure should be decided at next G.B. meeting. Dr.

Deepak C.E. converner of IAP-Directory discussed how to make IAP-KSB directory and

financial assistance to IAP-KSB directory. Organizing Secretary Dr. Ramesh Pol informed all

the members that state conference will be held in Bagalkot on 14th to 16th October 2011. He

gave list of topics and the faculties, which was approved by the members.

Dr. Subramanya and Dr. Shrinath Mugali (Election Commissioner of IAP) expressed that

according to election code of conduct the person who is contesting for election are not

supposed become a faculty for IAP Conferences and other scientific activities. Dr. Subbra

Rao gave the quarterly account of IAP-KSB and showed positive balance of Rs. 29, 13,438/

-Dr. Sanjeev Rai told about the new design of KPJ and all the members were happy about

new design, he also suggested including sub-specialty series in KPJ and announced that

KPJ is now indexed journal but not indexed with pubmed and sought more articles from

medical colleges, practitioners and sub specialty chapters.

Dr. Subramanya has been nominated by central IAP as in charge for designing new

teaching slides for under graduates and post graduates.

Dr. Karunakar B.P. briefed on the minutes of EB meeting of central IAP held in June at

Cochin.

Dr. Ashok Badakali secretary IAP-KSB proposed the vote of Thanks.

Dr. R.T. Patil Dr. Ashok Badakali

President Secretary

IAP � KSB - 2011 IAP � KSB � 2011


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APPROACH TO MANAGEMENT OF SECONDARYHYPERTENSION IN CHILDREN*Vikram Singhal, Sucheta Rao, Nutan Kamath

* Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University.

Hypertension is defined as

averagesystolic and/or diastolic pressure

>95th percentile for gender, age and height

on >3occasions.In developed countries, the

estimated prevalence in children is 1%-

2%.Surveys suggest a prevalence of 2%-5%

in Indian school children. Hypertension in

children can be essential (primary) or

secondary (identifiable underlying cause). A

secondary etiology may be suggested by

symptoms,examination findings or

laboratory abnormalities. Up to 85 percent of

children with hypertension have an

identifiable cause, most often renal

parenchymal disease. Anage-based approach

to the differential diagnosis is recommended.

The ABCDE mnemonic can be used to

help determine a secondary cause of

hypertension

TABLE I� Causes of Secondary Hypertension in Different Age Groups

Age Causes#

Newborns Renal artery thrombosis, renal artery stenosis, Congenital

malformation, coarctation of aorta,

Bronchopulmonary dysplasia

Infancy-6 yr Renal parenchymal disease(Chronic glomerulonephritis,

reflux nephropathy, obstructive uropathy, polycystic kidney

disease), renal artery stenosis , Coarctation of aorta

6-10 yr Renal artery stenosis, Renal parenchymal disease.

Adolescence Renal parenchymal disease

#__Others causes

Endocrine: Pheochromocytoma, cushing syndrome, congenital adrenal hyperplasia,

primary hyperaldosteronism, Liddle�s syndrome, neuroblastoma

Renal tumors: Wilms� tumor, nephroblastoma

Drugs: ibuprofen, naprosyn, peudoephedrine, carbamazepine, cyclosporine, tacrolimus,

methyl prednisolone, prednisolone, fludrocortisone, erythropoietin

A: ACCURACY, ALDOSTERONISM

Accuracy

The first step in diagnosing an

elevated blood pressure reading is to

investigate its accuracy. An inappropriate

blood pressure cuff for age or tight-fitting

sleeves that are not removed can give

falsely wrong readings. The cuffshould

encircle at least 80-100% of the armand the

bladder length should be >40% ofthe arm

circumference. Measurements should betaken

after 3 to 5 minutes of resting.White-coat

hypertension (blood pressure that is elevated

in the physician�s office but normal at other

times) accounts for about 20 percent of

patients with elevated readings.


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Appropriate charts with blood pressure

ranges based on gender, age, and height

percentilesfor children should be used.

Aldosteronism

Primary hyperaldosteronism is

defined as overproduction of aldosterone

independent of its usual regulator the renin-

angiotensin system.

B: BAD KIDNEYS, BRUITS

Bad Kidneys

Renal parenchymal disease can be a cause

or consequence of hypertension. The renal

damage decreases the kidneys� ability to

excrete salt and excess fluid (resulting in a

low renin state, as opposed to the high

renin state found in renovascular

hypertension).

Bruits

Renovascular hypertension results

from compromised arterial supply to the

kidneys and about 50% of patients have an

abdominal bruit identifiable on

examination.

C: COARCTATION, CATECHOLAMINES,

CUSHING�S SYNDROME

Coarctation of the Aorta

Coarctation of the aorta the second

most common cause of hypertension in

children, is more common in boys. In

neonates coarctation may present acutely as

congestive heart failure, but it is usually

diagnosed in children with the onset of

hypertension, difference between upper limb

and lower limb pulses or a cardiac

murmur.

Catecholamines

Excess catecholamine levels play a

role in white-coat hypertension and

pheochromocytoma. Acute stress induces

catecholamine release and often contributes

to hypertension.

Cushing�s Syndrome

Cushing�s syndrome can cause

hypertension via the mineralocorticoid effects

of excess glucocorticoids.

D: DRUGS, DIET

Drugs

Many prescription and nonprescription

drugs can cause or exacerbate hypertension

Eg. ibuprofen, naprosyn, peudoephedrine,

carbamazepine, cyclosporine, tacrolimus,

methyl prednisolone, prednisolone,

fludrocortisone, erythropoietin

Diet

Excess consumption of dietary sodium

is linked to chronic hypertension.Obesity

also can cause hypertension.

E: ENDOCRINE DISORDERS

Endocrine Disorders

Hypothyroidism induces decreased

cardiac output with a compensatory increase

in vascular tone, resulting in rise in diastolic

blood pressure whereas hyperthyroidism

induces increased cardiac output and

compensatory decreased vascular tone,

causing a greater increase in systolic blood

pressure.

Hyperparathyroidism (primary or

secondary to chronic renal insufficiency) is a

potentially reversible cause of hypertension.

However, only 30 to 40 percent of patients

with hyperparathyroidism have hypertension,

and parathyroidectomy does not reliably

resolve hypertension in patients with this

disorder.

In pheochromocytoma,the symptoms

can vary depending on the types of

catecholamines being produced, the amount

and frequency of their release into the

circulation.


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Figure 1: Algorithmic approach to evaluation of child with hypertension

Gradient between Upper and Lower limb

Abnormal urinalysis

Predominant WBC

Predominant RBC

Endocrine Renovascular lesion

Essential hypertension

Suspected Hypertension

Confirm Hypertension Check for • Proper cuff size • White Coat Hypertension

Detailed History Clinical Examination Full blood count ,Serum electrolytes, uric acid, renal function tests,Fasting lipid profile,Urinalysis,Renal ultrasound

Coarctation of Aorta- MRI Transthoracic Echocardiography

Reflux NephritisUrinary Tract Infection- Dimercaptosuccinicacid,DiethylenetriaminePentaacetic Acid,Micturatingcystourethrogram,Renal anomaly

Acute Glomerulonephritis

Lupus nephritisHenoch Schonlein Purpura

Renal Vein Thrombosis

Calculi,Infections

Thyroid- Thyroid stimulating hormone Computed tomography angiographyAldosteronism-Renin angiotensin activity Doppler ultrasonography of renalPheochromocytoma- 24-hour urinary arteries

fractionated MRI with gadolinium contrast mediametanephrines

Plasma free metanephrines Cushing syndrome- 24-hour urinary cortisol

Low-dose dexamethasoneSuppression

Congenital adrenal- 17-OH Progesteronehyperplasia


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Treatment

It is imperative to differentiate

primary from secondary hypertension as

treatment of the underlying cause of

secondary hypertension canoften normalize

the blood pressure.

Principles of treatment

• The goal for treatment is reduction of

blood pressure to levels <95th

percentile, unless comorbid conditions

or target-organ damage is present,

when it should be lowered to

<90thpercentile of expected age, sex and

height of the child

• Therapy is initiated with one agent, at

an appropriate dose and the dose is

increased until the desired blood

pressure is achieved. If the highest dose

is not effective or if there are side

effects, a drug from a different class is

added or substituted

• Medications with a longer duration of

action (once, twice daily dosing) are

preferred forbetter compliance and

reduced side effects

• Dose adjustment of antihypertensive

medications can be made every 2-3

days.

Lifestyle modifications

• Dietary changes- Recommendations for

daily sodium intake range between 1-

1.5 g.

• Physical exercise- 30-60 minutes or

more of physical activity every day that

is developmentally appropriate,

enjoyable and involving a variety of

activities

• Weight loss- Reduction of BMI by 10%

is reported to lead to 8-12 mm Hg fall

in blood pressure.

The choice antihypertensive drugs

depend on the underlying cause.

Initial treatment with Calcium

channel blockers (CCB) or beta adrenergic

blockers (BB) or Angiotensin converting

enzyme inhibitor(ACEi)

If BP continues to be >95th centile:

Usecombination therapy - ACEi +

CCB or ACEi +Thiazides or CCB + BB.

(Watch for bradycardiawhen

combining BB and CCB)

If BP continues to be >95th centile:

Add thirdagent - ACEi + CCB + Diuretic/

BB.

Otheragents: prazosin, clonidine,

hydralazine.

Choice of drugs according to the cause

ofhypertension

• Acute glomerulonephritis :Loop diuretic

+ CCB or ACEi

• Renovascular hypertension: CCB+

diuretic

A BB instead of a CCB if ventricular

function is normal ormildly deranged

• Chronic kidney disease:CCB, ACEi or

BB

If two drugs are required, the ACEi

(or BB) should be combined with a CCB.

Drug step-down:It might be possible

in overweight children who have lost

sufficient weight and also in patients in

whom aspecific intervention has treated the

underlyingcause for hypertension.


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TABLE II� Choice of Antihypertensive Drugs

Drug Dose initial Maximum

Hypertensive emergencies

Nifedipine 0.25 mg/kg 0.5 mg/kg

Sodium nitroprusside 0.5 µg/kg/min IV 8 µg/kg/min IV

Labetalol 1 mg/kg/hr IV, can be given 3 mg/kg/hr IV

as bolus or steady infusion

Long-term therapy

Captopril Neonates 0.03 mg/kg/d 2 mg/kg/d

children 1.5 mg/kg/d 6 mg/kg/d

Enalapril 0.15 mg/kg/d 0.6 mg/kg/d

Losartan 0.7 mg/kg/d 1.4 mg/kg/d

Extended-release nifedipine 0.25 mg/kg/d 3 mg/kg/d

Amlodipine 0.1 mg/kg/dose 0.6 mg/kg/d

(maximum 20 mg/d)

Propranolol 1 mg/kg/d 8 mg/kg/d

Atenolol 1 mg/kg/d 8 mg/kg/d

Prazosin 0.05-0.1 mg/kg/d 0.5 mg/kg/d

Minoxidil 0.1-0.2 mg/kg/d 1 mg/kg/d

Hydrochlorothiazide 1 mg/kg/d 2-3 mg/kg/d

Furosemide 1 mg/kg/d 12 mg/kg/d

Further Reading:

1. Bagga A, Jain R, Vijayakumar M,

Kanitkar M, Ali U. Evaluation and

management of hypertension. Indian

Pediatr 2007; 44: 103-121.

2. Gulati S. Childhood Hypertension.

Indian Pediatr 2006; 43: 326-333.

3. Working Group on Management of

Congenital Heart Diseases in India.

Drug Therapy of Cardiac Diseases in

Children. Indian Pediatr 2009; 46: 310-

338.

4. Anthony J. V. , Dana M. N. Diagnosis

of Secondary Hypertension: An Age-

Based Approach. Am Fam

Physician.2010;82(12):1471-1478.

5. Edward O.Diagnosing Secondary

Hypertension.Am Fam Physician.2003;67(1):

67-74.


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Abstract

An 8 month old infant was broughtwith history of developmental delay and notfixing or following objects. Infant hadmicrocephaly and generalized hypotonia.Remaining general physical examinationand systemic examination was unremarkable.Developmental assessment showed globaldevelopmental delay with developmentalage corresponding to less than 2 months.Oto-acoustic emissions showed bilateralhearing loss. Ophthalmology evaluation torule out neurometabolic disorders revealednormal pupils, cornea and fundus. MRIscan features were suggestive ofolivopontocerebellar atrophy (OPCA).

Key words

Hypotonia, Hearing loss, Olivopontocerebellar

atrophy.

Introduction

Olivopontocerebellar atrophy (OPCA)

is a term coined by Dejerine and Thomas

which comprises a series of heterogenous

diseases whose only common factor is the

loss of neurons in the ventral portion of the

pons, inferior olives and cerebellar cortex1.

There may be neuronal loss to a variable

degree in the spinal cord, cerebral cortex

and basal ganglia. Clinically they manifest

as progressive cerebellar ataxia, tremor,

speech impairment, and in some instances,

marked extrapyramidal signs, cranial nerve

palsies, and peripheral neuropathy2. It is

rare in childhood and very few present in

the first year of life3. We report an 8 month

old baby with OPCA presenting with global

developmental delay for its rarity.

Case

An 8 month old male baby presentedwith history of developmental delay and notfixing or following objects. Baby was born tononconsanguineous parents as fulltermvacuum delivery. There was no history ofbirth asphyxia. Developmental historyrevealed global developmental delay withdevelopmental age corresponding to lessthan 2months. On examination babyweighed 5.75kg, Length-61cm, and Headcircumference-42cm (microcephaly). Babywas afebrile with normal heart rate andrespiratory rate. Anterior fontanelle wasopen (3x2 cm) and convergent squint waspresent. Facies was normal. Head lag waspresent and hypotonia was noticed in allfour limbs. Deep tendon reflexes were brisk.Cardiovascular, respiratory and abdominalexaminations were normal.

Blood counts, liver function testsand renal function test were within normallimits. ABG analysis, urine metabolicscreening, and ophthalmology evaluation

were done to rule out neurometabolic

disorders. ABG analysis was normal. Urine

for metabolic screening was negative.

Ophthalmology assessment revealed normal

pupils, cornea and fundus. Otoacoustic

emissions showed bilateral hearing loss.

MRI scan of brain showed prominence

of the cerebellar folia, fourth ventricle

and cerebellopontine angle cisterns

suggestive of cerebellar atrophy. The

prepontine and perimedullary cisternal

spaces were prominent with reduction

in the size of the pons. Features were

suggestive of olivopontocerebellar atrophy.

OLIVOPONTOCEREBELLAR ATROPHY �A RARENEUROLOGICAL DISORDER.

*Dr. Georgia, Dr.K.Shreedhara Avabratha, Dr.Habib Khan,Dr.B.Sanjeeva Rai, Dr.B Suresh

* Dept of Pediatrics and Radiology*, Fr.Muller Medical College Mangalore-575002.


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Discussion

In 1970, Konigsmarkand Weiner4

classified OPCA into five types, type II

being of recessive or sporadicinheritance, the other types beingautosomal dominant. It is now generallyaccepted that it is not a single disease, butis the result of a number of clinically andgenetically separate conditions. The firstreport of neonatal onset ofolivopontocerebellar atrophy with systemicfeatures was by Agamanolis et al4 in 1986.

They described a brother and sisterwith the condition and suggested that itmay have been caused by a primarylipoprotein disorder. Harding et al4, twoyears later, noticed low serumconcentrations of thyroid bindingglobulin and ceruloplasmin in the twocases that they reported, thus raisingthe possibility of an abnormality ofglycoproteins. A less severe disorder hasbeen described in recent years with manyfeatures in common with olivopontocerebellaratrophy of neonatal onset including failureto thrive, developmental delay, hypotonia,retinal abnormalities, liver disease, jointrestrictions, pericardial effusions, andcerebellar hypoplasia or atrophy. This hasbeen named disialotransferrin developmentaldeficiency (DDD) syndrome or carbohydratedeficient glycoprotein syndrome4.

Recently, a putative biochemicaldefect has been identified in some patientswith recessive or sporadic OPCA, which is

the deficiency of the enzyme glutamate

dehydrogenase which is involved in the

metabolism of the excitatory neurotransmitter

glutamate4. Other neurotransmitter

abnormalities have been described in

dominant OPCA3.

The diagnosis of olivopontocerebellar

atrophy rests primarily on morphological

evidence of degeneration of the cerebellar

cortex and its afferent pathways; it has been

well described in adults and to a lesserextent in older children. Notable features insporadic and the familial forms of OPCAare the extensive degeneration of the middlecerebral peduncles, the cerebellar whitematter, and the pontine, olivary, and arcuatenuclei. Loss of purkinje cells has beenvariable. Most likely this degenerationrepresents a terminal �dying back�� of axonsof the pontine and olivary nuclei withsecondary myelin degeneration. The extremeatrophy of the medullary olivary nucleivirtually identifies the process and isevident on MRIs5. Though we couldn�tdo all the biochemical investigations in ourcase, MRI features were suggestive ofOPCA.

Fig. A

Fig. B


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Fig.A.MRI-Axial T2 weighted imaging

shows cerebellar and medullary atrophy

with prominent CSF spaces. Fig.B.MRI-

Sagital T1 weighted imaging shows atrophy

of pons,medulla and cerebellum and

prominent CSF spaces.

There is no specific treatment or cure for

this disease. Therapy is aimed at treating

symptoms and preventing complications.

This may include speech and physical

therapy, techniques to prevent choking,

walking aids to help with balance and

prevent falls.

In conclusion OPCA is a rare CNS

disorder with varied clinical manifestations

and characteristic MRI findings. This entity

should be considered whenever such

features are encountered.

REFERENCES

1. S Choi, M S Lee, W T Kim et al,

Olivopontocerebellar atrophy. Yonsei

Medical Journal 1988;29:233-237

2. Menkes J H, Heredodegenerative

diseases, Child Neurology, 7th edition,

Lippincot Williams and Wilkins,

Philadelphia, 2006:182-184

3. B N Harding, D B Dunger, D B Grant,

Familial olivopontocerebellar atrophy

with neonatal onset: a recessively

inherited syndrome with systemic and

biochemical abnormalities, Journal of

Neurology, Neurosurgery and

Psychiatry 1988;51:385-390

4. S P Horslen, P T Clayton, B N

Harding et al, Olivopontocerebellar

atrophy of neonatal onset and

disialotransferrin developmental

deficiency syndrome, Archives of

Disease in Childhood 1991;66:1027-

1032

Allan H.Ropper, Degenerative Diseases Of

The Newborn, Adams and Victors Principles

Of Neurology, Principles of Neurology,

Eighth edition, McGraw-Hill, New York

2005:935-936


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Abstract:

Eight year old boy presented withrefractory focal seizures. Seizures persistedin spite of second line anticonvulsantdrugs.MRI revealed bilateral cerebralhemispheric multifocal non enhancinghyperintense lesions involving the graymatter and sub cortical white matter. Adiagnosis of small vessel vasculitis of thecentral nervous system was made. Childresponded to intravenous methylprednisolone followed by oral steroids.

Key words: Central nervous system,Refractory seizures, Vasculitis.

Introduction:

Childhood primary angiitis of thecentral nervous system is a recentlyrecognised rare inflammatory disease thatcauses severe neurological deficits andunexplained neurological symptomsincluding intractable seizures, hemiparesis,cranial nerve deficits,severe cognitivedeficits and decreased consciousness. Thereare two types of childhood primary angiitisof the CNS: medium-large vessel and smallvessel vasculitis.MRI is a sensitive but notspecific detector of vascular disease but iscertainly valuable in excluding otherconditions. In patients with small vesselchildhood primary angiitis of the CNS,angiography findings are typically negativeand thus diagnosis must be confirmed bybrain biopsy. Neurological outcome inpatients with small vessel childhoodprimary angiitis of the CNS can bedevastating and can result in death.However, some children with small vesseldisease have shown neurological recoveryafter immunosuppressive treatment,

SMALL VESSEL VASCULITIS OF CENTRAL NERVOUSSYSTEM PRESENTING AS REFRACTORY FOCALSEIZURES-A CASE REPORT*Poppy Chadda, K Shreedhara Avabratha,Habib Khan,B.Sanjeev Rai and H B Suresh

* Department of Paediatrics and *Radiology,Father Muller Medical College, Mangalore,Karnataka,India.

suggesting that the neurological deficitscaused by brain inflammation arereversible.We report one case who presentedwith refractory seizures and diagnosed tohave CNS small vessel vasculitis.

Case :

Eight year old boy presentedwith history of six episodes of focal seizureswith secondary generalisation and post ictaldrowsiness in the previous three days.Exceptfor headache there was no history offever,vomiting or trauma.There is no familyhistory of epilepsy. On examination, he wasafebrile, GCS was 15/15, HR-100/min,BP-100/60 mm of Hg,RR-26/min. Systemicexamination was normal and there was noneurological deficits. Initial blood counts,blood sugar and serum electrolytes werewithin normal limits.CSF analysis was alsonormal (CSF glucose-79, protein-16,cells -2lymphocytes)EEG showed leftcentrotemporal epileptiform discharges. CTand MRI of brain showed features of postictal oedema. Child was treated withloading dose of phenytoin followed bymaintainence dose. Seizures subsided for 2days.

Two days after admission childdeveloped recurrent focal seizures involvingthe left lower limb lasting for 1-2 minutesevery 30-60 minutes, which later becamepersistent. Child was put on valproate,leviteracetam and lamotrigine. Phenytoinwas tapered and stopped. But seizureactivity continued. Carbamazepine andphenobarbitone was also tried. Midazolaminfusion was also given. However seizureactivity did not subside. A course ofacyclovir was also administered.


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A repeat MRI done after two weeksshowed bilateral cerebral hemisphericmultifocal non enhancing hyperintenselesions involving the gray matter andsubcortical white matter (Fig 1&2).Possibility of small vessel vasculitis wasmade. ANA profile was negative. In view ofvasculitis the child was started on

Repeat MRI at 6 weeks showed

improvement. Steroids were continued for 3

months and then tapered and stopped.MRI

done after 12 weeks showed complete

resolution. Child is being regularly followed

up and anti epileptic drugs are gradually

withdrawn and currently he is on one

antiepileptic drug.

Discussion:

Primary angiitis of CNS is a curious

and uncommon vasculitis and was first

recorded amongst �unknown form of

arteritis� by Harbitz in 1922. It is almost

exclusively confined to the brain and less

commonly the spinal cord.

There are two types of childhood

primary angiitis of the CNS: medium-large

vessel and small vessel vasculitis. Medium

Fig 1 Fig 2

intravenous methyl prednisolone pulsetherapy for 5 days. By the 5th day seizureactivity reduced in intensity and frequencyand child was able to walk. Child was puton oral steroids and discharged. Seizurescompletely subsided within the next oneweek.

Fig 1 MRI showing bilateral cerebral hemi-spheric multifocal non enhancinghyperintense lesions involving grey matterand subcortical white matter.

Fig 2 MRI showing focal areas ofhyperintensity involving grey matter andsubcortical white matter which show no postcontrast enhancement

large vessel disease affects arteries that are

large enough to be differentiated by

conventional angiography. In patients with

small vessel childhood primary angiitis of

the CNS, angiography findings are typically

negative and thus diagnosis must be

confirmed by brain biopsy. In our case non

response to anticonvulsants and abnormal

EEG prompted us to repeat a MRI.

Small vessel childhood primary

angitis of the CNS has been described in a

small number of case reports and case

series, with little information known about

its incidence and age distribution.

Neurological outcome in patients with small

vessel childhood primary angiitis of the

CNS can be devastating and can result in

death. However, some children with small


14

vessel disease have shown neurological

recovery after immunosuppressive treatment,

suggesting that the neurological deficits

caused by brain inflammation are reversible.

This recovery contrasts with the irreversible

damage caused by acute ischaemia in

paediatric patients with medium-large vessel

disease.

A myriad of neurological symptoms,

signs or syndromes can occur in CNS

vasculitis, reflecting the potential for

infarction and ischaemia which may be

micro- or macroscopic, focal, multifocal or

diffuse and affect any part of the brain.

Most accounts of the disorder describe

headaches, focal or generalized seizures,

stroke-like episodes with hemispheric or

brainstem deficits, acute or subacute

encephalopathies, progressive cognitive

changes, chorea, myoclonus and other

movement disorders, and optic and other

cranial neuropathies. In short, there are few

neurological syndromes that are not

consistent with a vasculitic aetiology.

Systemic features such as fever, night

sweats, livedo reticularis, or

oligoarthropathy may also be present but

often are only revealed by direct questioning

of the patient. Our patient presented with

only seizures. The course is commonly acute

or subacute, but chronic progressive

presentations are also well described, as are

spontaneous relapses and remission.

Prospective randomised controlled

trials are understandably difficult because of

the rarity of the condition and the lack of

unifying diagnostic criteria. Retrospective

analyses done in various studies have

emerged significant support for the use of

steroids with or without cyclophosphamide

in confirmed cases.Our child responded

well to intravenous methyl prednisolone,

followed by oral prednisolone. Notwithstanding

the problems in recognition and diagnosis,

cerebral vasculitis is a highly treatable

condition for which prompt management

can radically improve the outcome, hence

every attempt should be made to diagnose

the same.

References

1) Hutchinson C, Elbers J,Halliday W etal.

Treatment of small vessel primary CNS

vasculitis in children-an open label

cohort study . Lancet neurology 2010; 9:

1078�84.

2) Yaari R, Anselm IA, Szer IS, Malicki

DM, Nespeca MP, Gleeson JG.

Childhood primary angiitis of the

central nervous system: two biopsy-

proven cases. J Pediatr 2004; 145: 693�

97.

3) Benseler SM, deVeber G, Hawkins C, et

al. Angiography-negative primary

central nervous system vasculitis in

children: a newly recognised

inflammatory central nervous system

disease. Arthritis Rheum 2005; 52:

2159�67.

4) Benseler SM, Silverman E, Aviv RI et al.

Primary central nervous system

vasculitis in children. Arthritis Rheum

2006; 54: 1291�97.

5) Lanthier S, Lortie A, Michaud J, Laxer

R, Jay V, deVeber G. Isolated angiitis of

the CNS in children. Neurology 2001;

56: 837�42.

6) Matsell DG, Keene DL, Jimenez C,

Humphreys P. Isolated angiitis of the

central nervous system in childhood.

Can J Neurol Sci 1990;17: 151�54.

7) F G. Joseph and N J. Scolding. Cerebral

vasculitis-a practical approach.Practical

Neurology 2002; 2, 80�93.


15

A 7 year old boy presented to the

OPD with history of chest deformity noticed

since birth. There was no history of

recurrent chest infections, cyanosis or

breathing difficulty. He was born to non-

consanguinously married normal parents.

He was not investigated for the above

complaint anytime earlier. His general

physical examination revealed left sided

depressed hemithorax, with absent areola

and an inverted left nipple (fig 1).

There was no associated limb defect

or defective digits on the same side. No

other obvious external anomaly was made

out. Cardiovascular examination revealed a

right sided apex located in the 4th

intercostal space, with normal heart sounds

and no murmur. Respiratory system showed

decreased intensity of breath sounds over

the left lung fields. Per abdomen was

unremarkeable. Chest X-ray (fig 2) done

showed findings suggestive of dextrocardia

with defective left 2nd, 3rd and 4th ribs, with

normal diaphragms.

2D echo confirmed dextrocardia with

no structural cardiac abnormality.

Ultrasound abdomen showed normal

RARE ASSOCIATION 0F POLAND�S SYNDROME WITH

DEXTROCARDIA* Dr. N.Rashmi; Dr. Narayanappa.D

* Department of Pediatrics.JSS Medical College Hospital, JSS University, Mysore.

positions of all the organs, which ruled out

situs inversus.

Discussion:

Poland syndrome is a rare congenital

anomaly that was first described by Alfred

Poland in 1841. The incidence ranges from

1:10000 to 1:100000 as reported by different

authors.

The right side of the body is affected

three times more frequently than the left

and it is more common in boys than in

girls. It comprises of different anomalies

principally at musculo-skeletal system,

lungs, heart and kidneys.

Thorax deformity is the most

common feature of this syndrome. It

includes hypoplasia or absence of the

pectoralis minor and the sternal head of

pectoralis major muscles. The defect in the

chest wall is variable with the absence or

rudimentary development of the anterior

portion of 2, 3, 4, 5th ribs and their costal

cartilages. Breast together with nipple can

be absent or underdeveloped. Ipsilateral

hand anomalies can be seen as

brachydactyly, syndactyly or ectrodactyly


16

16

and are most important features of the

syndrome1,2,3. Different etiologic factors of

Poland syndrome are taken into account:

genetic, vascular compromise during early

stages of embryogenesis, but also teratogenic

effects of environmental xenobiotics.

More than 20 patients with

dextrocardia and left-sided Poland

syndrome have been previously described.

The association between these 2 rare

anomalies suggests a causal relationship,

but the etiopathogenetic mechanism has not

been clarified yet4.

Dextrocardia was reported in 5.6% of

a series of 144 patients with Poland

syndrome, and in 9.6% of those, the defect

was left-sided2,5,7.

In patients with isolated

dextrocardia, the incidence of congenital

heart disease has been estimated at 98%. In

dextrocardia with situs inversus this rate is

only 5%6. Congenital cardiovascular

anomalies have not been reported in Poland

syndrome with dextrocardia.

Dextrocardia in Poland syndrome is

associated with rib defects in all of cases,

whereas rib defects are reported in only

about 15% of patients with right-sided

Poland syndrome7.

Our case also supports the view that

the combination of Poland sequence and

dextrocardia is not coincidental and

dextrocardia may be part of the Poland

syndrome, especially left-sided. Probably,

mechanical factors during embryonic life

could explain the strong association between

left-sided Poland syndrome and

dextrocardia. Accordingly, partial agenesis

of 2 or more ribs is needed to displace the

heart toward the right side. The peculiar

features of dextrocardia when associated

with Poland syndrome (neither associated

with situs inversus nor complex intracardiac

anomalies) support this hypothesis.

References

1. Kevin P, David CS Jr. Disorders of

sternum and the thoracic wall. In :

Sabiston DC, Spencer FC (Eds.). Surgery

of the Chest, 6th ed. Philadelphia: WB

Saunders, 1995; 507-511.

2. Fokin AA, Robicsek F. Poland�s

syndrome revisited. Ann Thorac Surg

2002; 74: 2218- 2225.

3. Van Heest Ann E. Common orthopedic

problems II, Congenital disorders of

the hand and upper extremity.

Pediatr Clin North Am 1996; 43: 1113-

1133.

4. Michele Torre, Anwar Baban, Anna

Buluggiu, Sara Costanzo, et al. The

Journal of Thoracic and Cardiovascular

Surgery - 12 November 2009 (10.1016/

j.jtcvs.2009.08.024).

5. Bavinck JNB, Weaver DD. Subclavian

artery supply disruption sequence:

hypothesis of a vascular etiology for

Poland, Klippel- Feil, and Mobius

anomalies. Am J Med Genet. 1986;

23:903-18.

6. Chen JTT. The chest roentgenogram and

cardiac fluoroscopy. In: Alexander

RW, Schlant RC, Fuster V, editors:

Hurst�s the heart. Italian International

Edition. New York: McGraw-Hill; 1995.

p. 387-414.

7. Fraser FC, Teebi A, Walsh S, Pinsky L.

Poland sequence with dextrocardia:

which comes first? Am J Med Genet.

1997; 73: 194-6.


17

Abstract

A term baby presented with multiple

bullae and erosions on lower limbs, back

and scalp. Minimal trauma resulted in

fresh lesions. There were a few oral and

perioral lesions. Skin biopsy from the lesion

confirmed the diagnosis of junctional

epidermolysis bullosa. Epidermolysis bullosa

is a rare congenital mechanobullous disease.

Key words: Epidermolysis bullosa,

blister, newborn

INTRODUCTION

Epidermolysis bullosa (EB) is a group

of congenital, hereditary blistering disorder

A RARE BLISTERING DISEASE IN A NEWBORN* James Daniel S, K Shreedhara Avabratha, Elizabeth Varkey Cherian, B Sanjeev Rai,

Ramesh Bhat

*Department of Pediatrics and # Department of Dermatology, Father Muller Medical College,Mangalore, Karnataka, India

that are characterized by blister formation

in response to little or no apparent trauma.

Hence the alternate term is mechanobullous

disease. There are three major types,

epidermolysis simplex, junctional

epidermolysis bullosa and dystrophic

epidermolysis bullosa which differs in

clinical and histologic features, inheritance

patterns and severity and prognosis1. It

usually presents either at birth or during

the neonatal period. The incidence and

prevalence of epidermolysis bullosa are

estimated to be 19.60 per million live births

and 8.22 per million population, respectively2.

We report a newborn with multiple blisters

Fig A. Showing blisteringin perioral regions

Fig B. Showingblistering anderosion onextremities

Fig C:Light microscopy(10X) of

biopsy specimen showing

subepidermal blistering


18

and erosions whose skin biopsy confirmed

the diagnosis junctional EB.

CASE

A term female baby born to gravida 3

mother, with a good apgar score was

referred on day1 with history of blistering

and erosion of skin since birth. There was

consanguinity( 2o relation) between the

parents, however there was no family

history of similar complaints. The birth

weight of the baby was 2200 grams. On

examination baby had erosion on the lower

limbs and bullae over the back and scalp

(Fig A). Minimal trauma resulted in fresh

lesions. There were few oral and perioral

lesions (Fig B). Systemic examination was

normal. A diagnosis of epidermolysis

bullosa was considered, with congenital

syphilis as a differential diagnosis. Mother

was tested negative for VDRL. Skin biopsy

confirmed the diagnosis of junctional

epidermolysis bullosa (Fig C). The baby was

treated with antibiotics � local and

systemic, and paraffin guaze dressing.

Inspite of the treatment the baby succumb to

illness.

DISCUSSION

Epidermolysis bullosa(EB) is a rare

group of inherited disorders that manifests

as blistering or erosion of the skin and in

some cases, the epithelial lining of other

organs, in response to little or no apparent

trauma. The following major types of

epidermolysis bullosa have been identified

Epidermolytic - Epidermolysis bullosa

simplex (EBS), Lucidolytic - Junctional

epidermolysis bullosa (JEB), Dermolytic -

Dystrophic epidermolysis bullosa (DEB)3.

Epidermolysis bullosa simplex is the

most common type characterized by blisters

in the palms and soles, while milia scarring

and nail dystrophy is uncommon in this

type of EB. The junctional EB is more

severe and is characterized by enamel

hypoplasia with moderate to severe

intraoral blistering and skin lesions where

as the dystrophic EB is the most severe

form of disease characterized by milia,

atrophy and nail dystrophy3.

Junctional epidermolysis bullosa(JEB)

is the rare form of epidermolysis bullosa

and has an incidence of 2.04 per million

live births and 0.44 per million population,

respectively2 which is characterized by

presence of enamel hypoplasia, manifested

as localized or more extensive thimble-like

pitting of some or all of the tooth surfaces.

It is therefore an extremely useful clinical

finding, although it cannot be used as a

diagnostic tool until after the primary teeth

have erupted3. There are two major JEB

subtypes JEB- Herlitz and JEB Non Herlitz.

The more severe one, JEB-Herlitz (JEB-

H), presents at birth and involves all skin

surfaces which is inherited as autosomal

recessive inheritance and is life threatening.

An affected usually presents with blisters

at birth or during early neonatal period with

blisters particularly in perioral area, scalp,

legs, diaper area and thorax with relative

sparing of feets and legs. Mucous membrane

involvement may be severe and presents as

ulcerations in respiratory, gastrointestinal

and genitourinary system.

An essentially pathognomonic finding

is exuberant granulation tissue which

usually arises within the first several

months to one to two years of life3. This

may involve not only the skin but also the

upper airway. Moderate to severe intraoral

blistering is invariably present, with some

eventual narrowing of the opening of the

mouth (�microstomia�) and reduced

extension of the tongue (�ankyloglossia�).


19

Most patients die within first three of

year as large moist erosive plaques may

provide a portal of entry for bacteria

causing septicemia which is the most

frequent cause of death1.

The second type is a less severe form,

JEB-non Herlitz which is a heterogenous

group which presents as severe blistering

in neonatal period which is difficult to

differentiate from Herlitz type as

conditions associated with it is seen

although in milder form. Generalized

atrophic benign epidermolysis bullosa and

JEB associated with pyloric stenosis are

variants of non-Herlitz JEB.

In all types of JEB, light microscopy

shows subepidermal blister and electron

microscopy shows cleavage plane in the

lamina lucida. Differentiation of the two

types of epidermolysis bullosa is also

dependent on electron microscopy findings

and antigenic staining 4 ,5. In our case,

lesions presented since birth and light

microscopy was suggestive of JEB, this fits

into JEB-H.

Differentiating EB from non-EB, or

one form of EB from another, can be very

difficult, especially in the neonatal period.

The following condition can be considered

in the differential diagnosis of EB: bullous

congenital ichthyosiform erythroderma;

staphylococcal scalded skin syndrome;

bullous impetigo; incontinentia pigmenti;

neonatal herpes simplex; autoimmune

bullous disease � pemphigus or herpes

gestationis; aplasia cutis; focal dermal

hypoplasia; congenital syphilis and

Gunther�s disease2.

The treatment of JEB is mainly

supportive with diet which gives adequate

calories, supplementation of iron and

prompt treatment of infections with

appropriate antibiotics. Transfusion of

packed cells may be required in patient not

responding to iron and erythropoietin.

Tissue engineered skin grafts may be

beneficiale.

In summary any baby presenting with

bullous skin lesions, EB should be

considered and every effort should be

made to confirm the diagnosis.

REFERENCES

1. Morelli JG. Vesicobullous disorders. In

Nelson Text book of Pediatrics.

Kleigman RM, Jenson HB, Behrman

RE and Stanton BF ed. Philadelphia,

Pennsylvania, Saunders 2007; 2685-

2693.

2. Fine JD and Burge SM. Genetic

Blistering Diseases. In Rooks Text book

of Dermatology. Burns T, Breathnach S,

Cox N and Griffiths C ed. Singapore,

Wiley Blacwel 2010; 39.1-39.32.

3. Fine JD. Epidermolysis Bullosa. In

Dermatology. Bolagnia JL, Jorizzo JL

and Rapini RP ed. Spain, Elsevier

2008; 457-466.

4. Fine JD. Inherited epidermolysis

bullosa. Orphanet Journal of Rare

Diseases 2010, 5:12.

5. Fine JD, Eady RAJ, Bauer JA, et al. The

classification of inherited

epidermolysis bullosa (EB): report of

the Third International Consensus

Meeting on Diagnosis and

Classification of EB. J Am Acad

Dermatol 2008, 58:931-950.


20

ABSTRACT

Stevens-Johnson syndrome (SJS) and

toxic epidermal necrolysis (TEN) are

potentially fatal disorders, characterized by

high fever, wide-spread blistering exanthema

of macules, accompanied by mucosal and

oral involvement. The major causative drugs

were antibiotics, anticonvulsants, and

NSAIDs. The use of corticosteroids is based

on the idea that corticosteroids can

effectively suppress an excessive immune

response. We report 11 year old boy with

SJS caused by amoxicillin treated with

betamethasone, who recovered completely

without any sequele.

KEY WORDS: amoxicillin, SJS, betamethasone

INTRODUCTION

Stevens-Johnson syndrome is an

immune-complex�mediated hypersensitivity

disorder that may be caused by many drugs,

viral infections, and malignancies. Most

patients are in the second to fourth decade

of life; however, cases have been reported in

children as young as 3 months (1). SJS and

TEN are severe cutaneous reactions that

carry significant morbidity and mortality

risks for children who are affected (2). They

represent severity varients of the same

process with respect to mechanisms,

clinically, etiologically and histopathologically.

The incidence is 1 to 6 cases per million

person per years(3).Even though the exact

pathophysiology is unclear,drugs are the

important etiological factor. Supportive

therapy is the standard of care for SJS/TEN

STEVENS-JOHNSON SYNDROME��A CASE REPORT*DR.K JAGADISH KUMAR, DR.H.C.KRISHNA KUMAR, DR.PAWAN KUMAR,

DR.V.G.MANJUNATH, DR.S.MAMATHA

*Dept OF PEDIATRICS, JSS MEDICAL COLLEGE,JSS UNIVERSITY, MYSORE, KARNATAKA, INDIA.

and includes close monitoring of fluid and

electrolyte status, nutritional support,

meticulous wound care, and control of pain

and infection. We report 11 year old boy

with SJS caused by amoxicillin treated with

betamethasone who recovered completely

without any sequele.

CASE REPORT

A 11 year old boy presented with

fever since 5 days and skin lesions since 2

days. After 3 days of onset of fever he

developed red rashes over the trunk,which

gradually progressed to involve the whole

body over next three days.Later the rashes

became dark with blister formation .He

stopped taking orally also and mother

noticed red lips with oral ulcers.There was

no history of cough, difficuty in breathing

and pruritis.His urine out put was normal

and there was no history of dark coloured

urine and stools.He was treated with

amoxicillin and paracetamol for 2 days

before the onset of rashes.

On examination he was febrile, PR of

106/minute, BP of 90/60 mm of Hg,

Respiratory rate of 24/min oxygen

saturation was 98% in room air.Skin

examination revealed generalised red

maculopapular lesions all over the body

more on the face with few crusted lesions

exposing the red raw surface.There were

vesicles surrounded by erythematous

base.Nikolsky�s sign was absent.Oral cavity

appeared red,crusted with erosions over lips

,buccal mucosa,and genitalia.Detailed


21

ophthalmic examination revealed photophobia,

congested with white discharge bilaterally.

Other systemic examination was

unremarkable. Investigations revealed Hb

13gm/dl,TC 5,800cells/cu mm ,Differential

count of 80% Neutrophils,20% lymphocytes,

platelet count2.36 lakhs/cumm, normal

normocytic peripheral blood picture,CRP

positive,widal and peripheral smear for

malarial parasite were negative.Blood urea

22mg/dL,creatinine 0.6mg/dL,Blood sugar

136 mg/dL, ,Sodium 128mmol/l, potassium

4.2 m mol/L,chloride 100 mmol/l,chest X-

ray normal, blood culture was sterile. In

view of exposure to amoxicillin with typical

clinical features ,a diagnosis of SJS/TEN

was made .Boy was started with i.v

fluids,inj ranitidine, oral vitamin A 2 lakhs

per day and i.v.cefotaxim.Saline compresses

for the skin lesions,ofloxacin eye

drops,saline cleansing of oral mucosa with

application of glycerin with local

anaesthetic gel was given .I.V.betamethasone

4 mg once a day started with monitoring of

the vitals.He became afebrile by 4 days and

he started taking orally by 3 days and

became ambulent on the fifth day.Skin and

mucosal lesions started fading by 3 days.He

was completely off i.v fluids by fifth day.

Betamethasone was given for 7 days. By

10th day his skin and oral lesions healed

completely and discharged.

DISCUSSION

SJS and TEN are acute life threatening

mucocutaneous reactions characterised by

extensive necrosis and detachment of

epidermis.They start as erythematous

macules,evolve progressively to confluent

flaccid blisters with epithelial detachment.

They represent severity varients of the same

process with respect to mechanisms,

clinically, etiologically and histopathologically.

Pathologically, cell death results causing

separation of the epidermis from the dermis.

They differ only in the percentage of body

surface involvemet.The incidence is 1 to 6

cases per million people per years (3).Even

though the exact pathophysiology is unclear,

drugs are the important etiological factor.

Drugs particularly sulfonamides, NSAIDS,

anticonvulsants, antibiotics are the common

offenders (4).After the drug exposure SJS

clinically appears within 8 weeks (4 to 30

days).Fever, rhinitis may precede the

mucocutaneous lesions by 1 to 3

days.Burning eyes, pain on swallowing

progressively develops.The initial skin

lesions are dusky erythematous macules

which progressively coalese on

erythamatous base.The lesions evolve to

flaccid blisters and break easily. The typical

lesion has the appearance of a target. At

pressure points the necrotic epidermis gets

detachment exposing the red dermis.

Nikolsky�s sign will be positive. Usually

epithelial detachment occurs for 5-7 days

followed by re-epithelialisation.In our case

also; skin lesions were classical and

recovered by 7 days. If less than 10 % of

body surface area is involved it is SJS; more

than 30 % it is TEN; 10-30 % SJS /TEN(4).


22

In 90 % of the cases mucous membrane

involement occurs and atleast two or more

mucosal surfaces will be involved (3).It

begins as erythema followed by erosions of

buccal, ocular and genital mucosa. In SJS

pain from mucosal ulceration is severe and

skin tenderness is absent in contrast to toxic

epidermoal necrolysis (4). Individual lesions

typically should heal within 1-2 weeks,

unless secondary infection occurs. Most

patients recover without sequelae like our

case.85 % of cases will have conjunctival

lesions, manifested by hyperemia, chemosis,

photophobia, and lacrimation. Ocular

involvement can cause corneal scarring and

visual loss (1,3).Pulmonary involvement can

occur in 25 % of cases characterised by

bronchial hypersecretion and dyspnoea.

Raised blood urea is marker of

severity (3).Anemia, leucocytosis,

neutropenia, increased liver enzymes, raised

blood glucose can occur.The commonest

complication is sepsis due to epithelial

loss.Multiorgan failure, lung, ophthalmic

complications can also occur. The mortality

rate for TEN is 30 % and 5-12.5 % for SJS (1,

3,4). The single most important role for the

pediatrician is to detect Stevens-Johnson

syndrome/toxic epidermal necrolysis (SJS/

TEN) early and initiate the appropriate

emergency and inpatient management.

Treatment is primarily supportive and

symptomatic.Prompt withdrawal of the

offending drug and supportive care is very

important. Fluid and electrolyte balance is

the first priority, along with nutrition

support. Denuded skin lesions can be

cleaned with saline compresses.A daily

examination for infection is a must both

clinically and investigation wise. Eyes

shoud be taken care by ophthalmologist

with vitamin A, antibiotics and lubricants.

Some have advocated corticosteroids,

cyclophosphamide, plasmapheresis,

hemodialysis, and immunoglobulin.

The use of steroids is still

controversial (5,7,8, 9). The exact mode of

action of steroids in SJS/TEN is not known

(9). However, the prevailing consensus seems

to be that systemic glucocorticoids are

justified in the early and evolving disease

preferably within the first 72 hours of onset

to prevent widespread involvement or

during reappearance of erythema and/or

necrosis on newly regenerated skin. (6,9). In

a report of 52 cases of SJS and 65 cases

(2000-2006) of TEN from Japan, the authors

have used methyl prednisolone pulse (125-

1000 mg/day) for 3 days. They have

concluded that the mortality rates for

patients with SJS and TEN were 1.9% and

6.2% respectively which has decreased from

21.6% (58/269) during previous 17 years

(1981-1997) in which period steroids were

rarely used (5).Similar observations were

made by others also(9,10). Tripathi et al in

their report of 67 cases with SJS, 66 cases

recovered with steroid therapy (10). Steroid

pulse therapy at disease onset is of great

therapeutic importance in preventing ocular

complications also(11).Given the importance

of immune mechanisms in inflammatory

drug reactions, IVIG has emerged as a

potential immunomodulatory therapy for

SJS/TEN(2).IVIG seems to be a useful and

safe therapy for children with SJS/TEN. IVIG

doses of 0.5 to 1.0 g/kg administered over 3

days are most effective (2).

To conclude, SJS and TEN are

variations of the same disease expressed

with different severity .They generally begin

with a prodrome of high fever, sore throat,

and malaise, followed by the rapid onset of

cutaneous blistering, mucosal and eye


23

involvement. .SJS and TEN are rare but

serious disorders with significant morbidity

and mortality in children.Steroids seems to

be a useful therapy for SJS.

REFERENCES

1) Steven J Parrillo, Catherine V

Parrillo.Stevens-Johnson Syndrome.

eMedicine.Updated: May 25, 2010

2) Denise W. M, Peter J, Moise L. L. Use

of Intravenous Immunoglobulin in

Children with Stevens - Johnson

syndrome and Toxic Epidermal

Necrolysis: Seven Cases and Review of

the Literature. Pediatrics 2003;

112:1430-1436.

3) Valeyrie-Allanore L, Jaean-cLaude r,

Epidermal Necrolysis.In: Wolff K,

Goldsmith L A,,Katz S I ,Gilchrest B A

,Paller A S ,Leffell D J .editors.

Fitzpatrick�s Dermatology in General

Medicine., 7th Edition, vol-1, New-

york: Mc Graw Hill Medical;

2008.p.349-354

4) Joseph G.Moreli.Vesicobullous

disorders. In: Kliegman R M, Jenson H

B, Behrman R E,Stanton B F.editors.

Nelson Text Book of Pediatrics. 18th

Edition.vol-2, Philadelphia: W B

Saunders Company; 2008.p.2685-2688

5) Yamane Y, Aihara M, Ikezawa Z.

Analysis of Stevens-Johnson syndrome

and toxic epidermal necrolysis in

Japan from 2000 to 2006. Allergol Int

2007; 56:419-25.

6) Suresh Kumar.P.N, Biju Thomas,

Kishore Kumar, and Shibu Kumar

.Stevens�Johnson syndrome�toxic

epidermal necrolysis (SJS�TEN)

overlap associated with carbamazepine

use Indian J Psychiatry. 2005; 47: 121�

123.

7) Ginsburg CM.Stevens-Johnson

syndrome in children. Pediatr Infect

Dis. 1982; 1:155-8.

8) Cheriyan, Sarah, Patterson, Roy;

Greenberger, Paul A.; Grammer, Leslie

C.; Latall, John. The Outcome of

Stevens - Johnson syndrome Treated

with Corticosteroids.Allergy and

Asthma Proceedings.1995; 16:151-155.

9) Sharma VK, Sethuraman G, Minz A.

Stevens Johnson syndrome, toxic

epidermal necrolysis and SJS-TEN

overlap: A retrospective study of

causative drugs and clinical outcome.

Indian J Dermatol Venereol Leprol

2008; 74:238-40

10) Tripathi A, Ditto AM, Grammer LC,

Greenberger PA, McGrath KG, Zeiss

CR, et al. Corticosteroid therapy in an

additional 13 cases of Stevens-Johnson

syndrome: A total series of 67 cases.

Allergy Asthma Proc 2000; 21:101-5

11) Yamane Y, Aihara M, Ikezawa Z.

Analysis of Stevens-Johnson syndrome

and toxic epidermal necrolysis in

Japan from 2000 to 2006. Allergol Int

2007; 56:419-25.


24

Abstract:

Biotinidase deficiency is described inpatients with neurological, dermatological,immunological and ophthalmologicalabnormalities, especially in profounddeficiency (<10%). We report a baby whopresented with refractory seizures and skinrashes, with abnormal tone. He had a highC5OH levels on TMS, suggestive ofholocarboxylase deficiency. Specific enzymeassay showed deficient biotinidase activityof 0.1 nmol/min/mL. On treatment thebaby showed response with absence ofseizures and disappearance of skin rash.

Introduction

Biotinidase is a mammalian cellenzyme that occurs at high levels in theliver, serum, and kidney. Multiplecarboxylase deficiency responsive to biotinadministration was first described in 1971.Wolf and colleagues further characterizedthe infantile form of multiple carboxylasedeficiency as biotinidase deficiency in the1980si.It can be profound (<10% enzymelevel) or partial (10-30% enzyme level).ii

Clinical manifestations include neurological,dermatological, immunological,

and ophthalmological abnormalities.We report a case of profound biotinidasedeficiency

Case Report

A 3-month old boy, born of nonconsanguineous marriage, presented withhistory of multiple seizures since 2 monthsof age. MRI brain at that time revealedischemic changes in the white matter andhe was on treatment with phenobarbitone.

On admission, he was found to have

jitteriness. Skin showed an erythematous

rash around neck and back. Alopecia and

seborrheic dermatitis present since birth.

Systemic examination revealed an increasedtone with exaggerated reflexes. Laboratoryinvestigations revealed normal hemogram,liver functions, and serum ammonia andserum electrolytes. Blood gas analysisshowed persistent severe metabolic acidosis,refractory to therapy. CSF was normal

After admission, baby was treated inintensive care for seizures which weredifficult to control. In view of poortherapeutic response and suspicious MRIreports, he was investigated further for ametabolic disorder. Plasma and urine aminoacidogram was normal. Tandem massspectrometry revealed increased C5OHlevels, suggestive of holocarboxylasedeficiency. Specific enzyme assay showeddeficient biotinidase activity of 0.1 nmol/

min/mL (normal >5nmol/min/mL).

Picture 1 � shows the face and scalp

to have an erythemaout rash along with

alopecia and seborrheic dermatitis.

He was started on oral biotin (10mg/day) along

with Carnitine (100mg/kg).The child improved

dramatically within few days with

normalization of sensorium and blood gas

reports, control of seizures, and disappearance

of skin lesions. He was discharged on biotin

CASE REPORT - BIOTINIDASE DEFICIENCY IN INFANCY*Dr.Rajashekar Murthy G.V , Dr Sanjay K.S. , Dr.Bharath Kumar Reddy K.R.

* Indira Gandhi Institute of Child Health, Bangalore


25

supplements and presently doing well after 3

months.

Discussion

The incidence of profound biotinidasedeficiency is estimated at 1 per 137,401population. The combined incidence ofpartial and profound deficiencies is 1 per61,067 populations1 However, onlyoccasional case reports are available inIndian literature.2 The gene that encodesbiotinidase is localized at 3p25. The mostcommon mutation, 98-104del7ins3 (which ispresent in approximately one half ofsymptomatic children), has been identified.A second, less common mutation, Arg538 R? C, has also been described.3

The appearance of symptoms seemsto be associated with metabolic stressors (eg,illness, fever, fasting), and children may notbe symptomatic until such time. The mostcommon symptom of presentation isseizures. Others include features ofdevelopmental delay, ataxia, neuropathy,auditory nerve dysfunction and spasticparaparesis. Dermatological manifestationsare particularly striking when they develop;these include alopecia and an eczematous,scaly perioral/facial rash. Although theymay be severe, the rash and alopeciatypically respond rapidly to biotinadministration over days to months. Respiratoryproblems in these children includehyperventilation, laryngeal stridor and apnea.

Most cases with Biotinidase deficiencyexhibit metabolic ketolactic acidosis, organicaciduria, and mild hyperammonemia.Children with biotinidase deficiency maydemonstrate cerebral edema, low attenuationof white matter signal, cerebral atrophy, andcompensatory ventricular enlargement.4 EEGfindings prior to treatment demonstrate poororganization of background and absence of

typical sleep morphology. Both thesefindings were seen in our child. Diagnosiscan be confirmed by Tandem Massspectrometry and serum enzyme analysis.

Therapy for biotinidase deficiency isoral biotin, typically administered at aninitial dose of 10 mg/d. Some patientsrequire higher dosages. If the enzymaticdefect is present but does not respond tolower dosages, consider a high-dose therapy(up to 40 mg/d). If children are left withresidual neurological disease, they mayrequire treatments for developmental delay,spasticity, and bulbar dysfunction inaddition to biotin. With treatment, patientshave an excellent prognosis and potential fora normal lifestylevii

1. Wolf B. Disorders of Biotin Metabolism.In: Scriver CR, Beaudet AL, Sly WS,Valle D (eds). The Metabolic andMolecular Bases of Inherited Disease.8th ed. New York: McGraw-Hill;2001.p.3935-3962.

2. McVoy, Julie R. Secor; Levy, Harvey L.;Lawler, Michael; Schmidt, Michael A.;Ebers, Douglas D.; Hart, Suzanne; Pettit,Denise Dove; Blitzer, Miriam G. et al.(1990). �Partial biotinidase deficiency:Clinical and biochemical features�. TheJournal of Pediatrics 116 (1): 78�83.

3. Wolf B. Worldwide survey of neonatalscreening for biotinidase deficiency. JInherit Metab Dis 1991; 14: 923-927.

4. Ramdas Dahiphale, Shreepal Jain,Mukesh Agrawal; Biotinidase deficiency;Indian Pediatrics 2008; 45:777-779

5. Hymes J, Stanley CM. Wolf B. Mutationsin BTD causing biotinidase deficiency.Hum Mutat 2001; 18: 375-381.

6. Lott IT, Lottenberg S, Nyhan WL,Buchsbaum MJ. Cerebral metabolicchanges after treatment in biotinidasedeficiency. J Inherit Metab Dis 1993: 16:399-400.

7. Weber P, Scholl S, Baumgartner ER.Outcome in patients with profoundbiotinidase deficiency: relevance ofnewborn screening. Dev Med ChildNeurol 2004; 46: 481-484.


26

Abstract

Schizencephaly is a rare developmental

disorder of neuronal migration,

characterized by early focal destruction of

the germinal matrix and surrounding brain

before the cerebral hemispheres are fully

formed at 1-5 months of gestation .The

lesion is most likely related to multiple

aetiologies including genetic, toxic,

metabolic, vascular or infectious agents. This

case is reported due to its rarity. The

prevalence of schizencephaly is very

uncommon internationally.

Key Words: Schizencephaly, septum

pellucidum, septoptic dysplasia.

Introduction

Schizencephaly is an uncommon

disorder of neuronal migration characterized

by a cerebrospinal fluid�filled cleft, which is

lined by gray matter. The cleft extends

across the entire cerebral hemisphere, from

the ventricular surface (ependyma) to the

periphery (pial surface) of the brain1. This

disorder was originally described by

Wadsworth and Yakolev2. The clefts may be

unilateral or bilateral and may be closed

(fused lips), as in schizencephaly type I, or

separated (open lips), as in schizencephaly

type II. Schizencephaly can be distinguished

from porencephaly by the fact that in

schizencephaly the fluid-filled component, if

present, is entirely lined by heterotopic grey

matter while a porencephalic cyst is lined

mostly by white matter . The cardinal

neuropathological features are ³)Hemispheric

cleft ³³)communication of subarachnoid

space with lateral ventricle medially ³³³)

Infolding of grey matter along the cleft iv)

Multiple associated intracranial malformations

including polymicrigyria, absent septum

pellucidum, optic nerve hypoplasia.

Case Report:

A 15 month old male child presented

to us with complaints of inability to move

the left upper and lower limbs, noticed by

the parents since 5 months of age. The

development of the child was mildly delayed

in all domains. No history of convulsions

was present. The child was delivered full

term normally at a hospital with no

intrapartum or postpartum complications.

Child was the second born of a non

consanguineous parentage. On physical

examination child had normal head

circumference with no dysmorphic features.

Anthropometric measurements of weight and

length were within normal limits Vision and

hearing were normal. Muscle tone showed

spasticity in the left lower and upper limbs

with exaggerated reflexes. Babinski�s sign

was extensor on the left side. The child was

admitted for evaluation of the etiology of

stroke. Hematological and biochemical

parameters were within normal limits. CT

scan showed a Closes Lip Schizencephaly

on the right side with an absent septum

pellucidum.. MRI was suggested but the

patients were not willing for the same.

Counselling was given and physiotherapy

was advised.

CASE REPORT: SCHIZENCEPHALY TYPE I � A CAUSEFOR STROKE IN CHILDREN*Dr Sanjay K.S, Dr Rajashekar Murthy G, Dr Bharath Kumar Reddy K.R

*Indira Gandhi Institute of Child Health, Bangalore


27

Picture 1 � shows a closed lip

schizencephaly resulting in left sided

hemiparesis

Discussion

In schizencephaly, the neurons border

the edge of the cleft, implying a very early

disruption of the usual grey matter migration

during embryogenesis. The cause of the

disruption is not known, but likely the cause

may be either genetic or a physical insult, such

as infection, infarction, hemorrhage, toxin or

mutation. As genetic cause, it is found to have

a mutant gene,EMX21. The symptoms of

schizencephaly are variable. In closed type

(Unilateral case)- Mild hemisparesis and

seizure but normal development.In open type

there is mild to moderate developmental delay

with hemiparesis. In bilateral clefts there is

severe mental deficits, severe motor anomalies

including spastic quadreparesis2 MRI is the

imaging modality of choice3. Treatment

consists of treatment of seizures,

physiotherapy, and in cases that are

complicated by hydrocephalus, a

ventriculoperitoneal shunt is needed. In open

lip schizencephaly the patients die at early age.

Death is mainly due to failure to thrive, chronic

infections and respiratory problems. In closed

lip schizencephaly patients may not present

until later in infancy and they live upto

adulthood.

REFERENCES

1. Spalice A, Parisi P, Nicita F, Pizzardi G,

Del Balzo F, Iannetti P. Neuronal migration

disorders: clinical, neuroradiologic and

genetics aspects. Acta Paediatr. Mar

2009;98(3):421-33

2. Denis D, Chateil JF, Brun M, Brissaud O,

Lacombe D, Fontan D, Flurin V, Pedespan

J. Schizencephaly : Clinical imaging

features in 30 infantile cases. Brain Dev

2000 Dec ; 22(8)475-83

3. Tietjen, I.; Bodell, A.; Apse, K.; Mendonza,

A. M.; Chang, B. S.; Shaw, G. M.; Barkovich,

A. J.; Lammer, E. J.; Walsh, C. A. :

Comprehensive EMX2 genotyping of a

large schizencephaly case series. Am. J.

Med. Genet. 143A: 1313-1316, 2007

4. Gasparetto EL, Warszawiak D, de

Carvalho Neto A, Benites Filho PR, Bruck

I, Antoniuk S. Septo optic dysplasia plus

a case report. Arq Neuropsiquitar 2003

Sep; 671-6

5. Hayashi N, Tsutsumi Y, Barkovich AJ.

Morphological features and associated

anomalies of schizencephaly in the

clinical population: detailed analysis of

MR images. Neuroradiology 2002 May ;

44(5):418-27


28

Polycythemia is a silent clinical entity,

which if unrecognized can result in

significant morbidity. We present a

prospective study done on 1362 consecutive

inborn babies delivered in J.S.S Hospital,

Mysore during the period from 1st July 2004

to 30th June 2005. Babies were considered

polycythemic if the venous hematocrit was

65% or more. The incidence of polycythemia

was 2.28%. Majority of the polycythemic

babies had venous hematocrit between 65 to

66%. Most of the symptomatic and also

asymptomatic babies had borderline

polycythemia. Hence, the degree of

polycythemia did not have any relation

with the symptomatology.

Key words: Neonatal polycythemia,

Hematocrit, Symptomatology.

Introduction

Polycythemia and secondary

hyperviscosity are common problems in the

newborn period with reported incidence

ranging from 1% - 5% in total newborn

population(1,2).

The most widely accepted definition

is venous hematocrit 65% or greater(1,2,3).

Small for gestation age babies(3) and infant

of diabetic mother(4) are known to have an

increased incidence of polycythemia and

hyperviscosity.

In India, low birth weight babies

represent 30% of all live births each year.

More than half of these babies are born at

term(5). It is thus obvious that polycythemia

could be a real problem existing in our

country and babies need to be actively

screened for this condition.

Treatment of infants with polycythemia

is relatively simple but controversial. There

is no controversy with regard to treatment of

symptomatic newborn babies with

polycythemia. However, in a newborn with

asymptomatic polycythemia, the indication

of partial exchange transfusion is not as

universally accepted because of lack of

controlled data. Management in

asymptomatic infants should be individualized.

Clinical studies reveal some

measurable benefits following partial

exchange transfusion. Controversy exists

with respect to the long term benefits to

infants treated with partial exchange

transfusion(6).

Methods

All babies born at J.S.S Hospital,

Mysore from 1st July 2004 to 30th June 2005

were included in the study , irrespective of

the gestational age and birth weight.

Criteria for exclusion:

-delayed cord clamping.

-holding the baby below the level of

mother�s introitus.

-cord milking/stripping.

In all the cases, the umbilical cord

was clamped within 30 seconds after birth

of the baby and the babies were held at the

level of the mother�s introitus. Birth weight

was recorded to nearest 10 grams.

Gestational age was determined from

mother�s menstrual history and confirmed

by modified Ballard�s scoring. Intrauterine

growth retardation and macrosomia were

defined by birth weight according to

gestational age, less than 10th percentile and

more than 90th percentile, respectively.

NEONATAL POLYCYTHEMIA �A HOSPITAL BASED STUDY* Dr.Narayanappa.D, Dr.N.Rashmi, Dr.Mohan B.K

*Department of Pediatrics, J.S.S Medical College & Hospital, JSS University, Mysore, Karnataka, India


29

Capillary hematocrit was determined

on blood samples obtained by pricking a

neonate�s prewarmed heel (with medipoint

blood lancet) at 2- 4 hours of postnatal age.

Consent was obtained from the parent

present at the time of the procedure. All

capillary hematocrit were determined in

duplicate in 17 mm long and 1 mm wide

(internal diameter) capillary tubes spun at

10,000 RPM for 5 minutes, in a

microhematocrit centrifuge (REMI RM12C )

and the hematocrit read using a reading

device (REMI reading device) .

Steps of reading the haematocrit

using the reading device:

Step 1- position the capillary tube in

the slot so that the baseline of the reader

intersects base of the red cell column.

Step 2- move the tube holder so that

the top line intersects top of the plasma.

Step 3- adjust the knob so that the

middle line intersects top of the red cell

column.

Step 4- read hematocrit (as percent)

on the scale.

If the capillary hematocrit was 70%

or greater, a peripheral venous hematocrit

was determined immediately. The infants

were considered to be polycythemic if thevenous hematocrit was 65% or greater. Arepeat hematocrit was performed at 12 hours(or at any age if symptoms appeared) if theinitial hematocrit was high.

All neonates were examined by thesame investigator and the polycythemicbabies were categorized as symptomatic andasymptomatic. Particular attention was givento the presence of signs and symptomsattributable to polycythemia. Lethargy, poorfeeding, plethora, cyanosis, convulsions,icterus, tachypnea, etc., were looked for.

The following investigations were

sent for all polycythemic babies:

- Hb (gm/dl), platelet count (per/mm3),

- Blood glucose(mg/dl), serum calcium(mg/

dl), serum total bilirubin(mg/dl).

The laboratory abnormalities were defined

as follows-

• Thrombocytopenia defined as platelet

count 1,00,000/mm3.

• Hypoglycemia has been defined as

blood glucose less than 40 mg/dl

irrespective of birth weight and

gestational age.

• Hypocalcemia has been defined as

serum total calcium less than 7.0 mg/

dl.

• Hyperbilirubinemia has been defined as

serum bilirubin level of more than

12mg/dl.

In symptomatic babies, septicemia

was excluded by negative sepsis screen

(total leucocyte count, ESR, CRP) and blood

culture. Lumbar puncture was done in case

of convulsion to rule out meningitis and

cranial ultrasound was done to rule out any

structural anomalies of the brain.

Partial exchange transfusion was

performed for the following babies

- Those babies with venous hematocrit

≥65% with symptoms.

- Those babies with venous hematocrit

>70% without symptoms.

Asymptomatic babies with a venous

hematocrit of 65 to 70 % were only

observed.

The volume for partial exchange

transfusion was calculated using the

formula- (observed hematocrit- desired

hematocrit)×weight (kg)×blood volume (ml/

kg) observed hematocrit

Desired hematocrit was taken as 55%,

Blood volume taken as 80ml/kg.


30

Partial exchange transfusion was

done through two peripheral veins. Blood

was allowed to drip out freely through a

vein using 21-22 gauge disposable needle/

cannula while simultaneous infusion of

fluid (normal saline) was carried out

through another peripheral vein. Babies

were monitored throughout the procedure.

Immediate post exchange hematocrit

was done using venous blood. Babies were

followed up clinically and repeat hematocrit

done at 12 hrs of age.

Effectiveness of partial exchange

transfusion was assessed by its efficacy to

bring down the hematocrit to desired levels

and to maintain it at normocythemic levels

and also the improvement in the signs and

symptoms of polycythemia.

Results

Total of 1362 babies born

consecutively at J.S.S Hospital, Mysore from

1st July 2004 to 30th June 2005 were studied.

The overall incidence was 2.28%.

Among the polycythemic babies, 15 were

males and 16 were females. There was no

significant difference in gender (P>.05)

among polycythemic babies. 3 out of 16

twins in the study population had

polycythemia.

Among mothers with abnormal

pregnancy, babies born to mothers with PIH

constituted the highest number (12 out of 31

cases). Incidence of polycythemia was

significantly high in babies born to mothers

with PIH, APH, GDM and multiple

pregnancy when compared with mothers

with no abnormality. (Table I).

No. of Mother

s

% of Total

No. of Polycythe

mic Babies

% P

value*

Normal 1237 90.82% 12 0.97% -

PIH 70 5.14% 12 17.14

%

.000

Multiple

Pregnancy

16 1.10% 3 18.75

%

.000

GDM 9 0.66 % 3 33.33

%

.000

APH 8 0.58 % 1 12.50

%

.000

Cardiac

Disease

8 0.58 % - - NS

Renal

Disease

2 0.15% - - NS

Others 12 0.88% - - NS

TABLES

Table I: Relationship between Maternal Medical and Obstetrical Status and

Neonatal Polycythemia.


31

Among the polycythemic babies

(n=31), term babies constituted 77.4% and

SGA babies constituted 54.8%. Preterm and

post term babies constituted 19.4% and 3.2

% respectively. AGA and LGA babies

constituted 41.9% and 6.25% respectively.

Among the clinical features, lethargy

was the most common (61.3%), followed by

poor feeding (38.7%), plethora (38.7%),

cyanosis (22.6%). Convulsion was seen in

one case (Table 2). 11 out of 31

polycythemic babies were asymptomatic.

(Table II)

Table II: Clinical features in

Neonatal Polycythemia.

Hypoglycemia was seen in 10 cases

(32.3%), thrombocytopenia in 7 cases (22.6%),

hyperbilirubinemia in 6 cases (19.35%),

hypocalcemia in 2 cases (6.5%). (Table III).

Table III: Laboratory Abnormalities

in Neonatal Polycythemia.

Majority of the polycythemic babies

had venous hematocrit between 65 to 66%.

In the asymptomatic group, 8 babies had

venous hematocrit of 65-66% and 3 babies

had 66-67%. In the symptomatic group, 17

babies had 65-66%, 1 baby had 66-67% and

2 babies had 67-68%. This shows that 85%

of the symptomatic babies had borderline

high levels of venous hematocrit. The venous

hematocrit levels did not correlate with the

clinical features. (Table IV).

Table IV - Frequency distribution of

venous hematocrit among polycythemic

babies.

This table shows that majority of bothsymptomatic as well as asymptomaticbabies had borderline hematocrit of 65 �66%. There was no significant differencebetween symptomatic and asymptomaticbabies with respect to the hematocrit levels(p = 0.4). Hence the degree of polycythaemiacould not be related to the symptomatology.

In the present study, 20 babiesunderwent partial exchange transfusionwith normal saline through two peripheralveins. 11 asymptomatic babies partialexchange were only observed.

Discussion

The present study showed anincidence of neonatal polycythemia of2.28%. The incidence in the present studycompares well with the 1.4 -5 % incidencereported by other workers(7,10,11). Within

Clinical signs

and symptoms

No. of

Polycythemic Babies

(%)

Lethargy

Poor Feeding

Plethora

Cyanosis

Icterus

Tachypnea

Convulsion

19

12

12

7

6

2

1

61.3%

38.7%

38.7%

22.6%

19.35%

6.5%

3.2%

Asymptomatic

11 35.48%

Symptomatic 20 64.52%

Laboratory Parameter

No. of Cases

%

Hypoglycemia 10 32.3%

Thrombocytopenia 7 22.6%

Hyperbilirubinemia 6 19.35%

Hypocalcemia 2 6.5%

Venous

hematocrit (%)

No. of

Polycythemic Cases

No. of Asymptomati

c babies

No of

Symptomatic

Babies

65-66 25

(80.6%) 8 (72.8%)

17 (85%)

66-67 4 (12.9%) 3 (27.2%) 1 (5%)

67-68 2 (6.5%) 0 2 (10%)

Total 31

(100%) 11

20


32

the polycythemic group, term babies andSGA babies constituted the highest. Thiswas similar to studies conducted byL.Krishnan(5), M.Singh(9), S.Singh(11). ButWiswell(10) showed that majority of thepolycythemic babies in the growth statusgroup were AGA.

Among the maternal risk factors forthe development of neonatal polycythemia,the present study showed that, PIH hadsignificantly (p=.000) high risk ofdevelopment of neonatal polycythemia. Thiswas similarly seen in studies conducted byVirginia (20.7%) and L.Krishnan (27%) (5,8).The study also showed that other maternalrisk factors like GDM, multiple pregnancy,APH significantly increased the incidence ofneonatal polycythemia.

The most common clinical featuresseen in this study included lethargy (61.3%),followed by poor feeding (38.7%), plethora(38.7%), cyanosis (22.6%), icterus (19.35%).Other studies showed similar result.

Other uncommon manifestations ofneonatal polycythemia, like necrotizingentrocolitis, intracranial hemorrhage,priapism were not encountered in thepresent study, unlike in other studies(12,13).

In the present study, 35.48 % of thepolycythemic babies were asymptomatic.This was similar to the study conducted byWiswell(10).

Most common laboratory abnormalityseen in neonatal polycythemia in this studywas hypoglycemia (32.3%), followed bythrombocytopenia (22.6%), hyperbilirubinemia(19.35%) and hypocalcemia (6.5%). Otherstudies also showed that hypoglycemia wasthe most common laboratory abnormalityassociated with polycythemia.

Majority of the babies had venoushematocrit in the range of 65-66% (25 out of31). In the asymptomatic group, 8 babieshad hematocrit of 65-66% and 3 babies had66-67%. In the symptomatic group, 17babies had hematocrit of 65�66%, i.e; 85% ofthe symptomatic babies had borderline high

levels of venous hematocrit. Hence, thevenous hematocrit levels did not have anyrelation with the clinical features.

Points to remember:

1) Polycythemia is a silent clinical entitywhich if unrecognized can result insignificant morbidity and mortality.

2) Close monitoring is necessary asclinical features in polycythemia may besubtle and babies may beasymptomatic.

3) Lethargy was the most commonsymptom and hypoglycaemia, the mostcommon laboratory finding.

4) The levels of venous hematocrit do nothave any relation with the symptomatology.

REFERENCES

1. Wirth FH, Goldberg KE, Lubchenco LO.Neonatal hyperviscosity: I Incidence.Pediatrics 1979; 63:833-836.

2. Stevens K, Wirth FH. Incidence ofNeonatal hyperviscosity at sea level. JPediatr 1980; 97: 118 � 119.

3. Humbert JR, Abelson WE, Battaglia FC.Polycythemia in small for gestationalage infants. J Pediatr 1969; 75: 812.

4. Letsky EA. Polycythemia in thenewborn. In: Text Book of Neonatology,2nd Edn. Eds. Roberton NRC.Edinburgh, Churchill Livingstone, 1992;p 719 � 723.

5. Krishnan L, Rahim A. NeonatalPolycythemia. Indian J Pediatr 1997;64:541-6

6. Goldberg K, Wirth FH, Hathaway WE etal. neonatal hyperviscosity: II. Effects ofpartial plasma exchange transfusion.Pediatrics 1982; 69: 419-425.

7. Ramamurthy RS, Brans TW. Neonatalpolycythemia: I. Criteria for diagnosis andtreatment. Pediatrics 1981; 68: 168 � 174.

8. Kurlat I, Sola. Neonatal polycythemia inappropriately grown infants ofhypertensive mothers. Acta Paediatr1992; 81(9):662-4


33

9. Singh M, Singhal PK, Paul VK et al.Polycythemia in the newborn � Doasymptomatic babies need exchangetransfusion? Indian pediatr 1990; 27:61-65.

10. Thomas E, Wiswell MC, Dern CornishMC. Neonatal polycythemia: Frequencyof clinical manifestations and otherassociated findings. Pediatrics 1986; 78: 26-30.

11. Singh S, Narang A, Bakoo O N.Polycythemia in Newborn. IndianPediatr 1990; 27: 349-353.

12. Hankanson DO, OH W. Necrotizingenterocolitis and hyperviscosity in thenewborn infant. J Pediatr 1977; 90: 458-461.

13. Black VD, Lubchenco LO. Neonatalpolycythemia and hyperviscosity. PediatrClin North Am 1982; 29: 1137-1148.


34

ABSTRACT:

This report describes congenital

emphysema of left lung in a 25 day old

neonate who presented with cough, fever

followed by breathlessness and bluish

discoloration of lips and limbs.

KEY WORDS:

Respiratory distress, Emphysema,

Atelectasis, adrenal cyst.

INTRODUCTION:

Pulmonary Emphysema is distension

of air spaces with irreversible disruption of

alveolar septa. It can generalized or

localized. Congenital Emphysema can result

in severe respiratory distress in early

infancy and can be caused by localized

obstruction. Familial occurrence has been

reported. Only in 50% of cases, a cause of

congenital emphysema can be identified.

CASE REPORT:

A 25 day old term neonate named

Saidu S/O Jaganath Karikal resident of

Afzalpur, Gulbarga was admitted in our

PICU on 26/01/11 with chief complaint of

Cough andFever- since 4 days,

Breathlessness since 2 days,Bluish

discoloration of lips and limbs 2 days

This child was born to a 2nd degree

consanguineous couple, and birth history

was uneventful. This is the 4th child of the

couple and other siblings are keeping in

good health. On examination, Pulse- 168/

min, BP- 60/40 mm of Hg , RR- 58 cycles/

min , Head circumference � 34 cms Chest

circumference- 32 cms(Right 17 cm, Left- 15

cm) , Length- 54 cms, Weight- 2.75 kg.

Respiratory system examination revealed

tachypnoea, subcostal retractions, nasal

flaring, Spo2 = 85% with 5 liter of O2/ min,

decreased chest movements over the right

side of chest, bulging noticed over right

hemithorax, hyperresonent note over left side

of chest and decreased air entry over right

side of chest. Routine investigations, Chest x

ray and CT thorax was done

INVESTIGATIONS:

Hb- 17.9 gm/dl,TC- 13,100 cells/

mm3,DC= P- 42%, L- 57%, E-1%,ESR- 10

mm/ 1st hour

CONGENITAL EMPHYSEMA: A CASE REPORT*Roopa.Mangshetty. Sharangouda Patil. Shrikanth.S.W. Hosgouda Kiran.

*From Department of Pediatrics Mahadevappa Rampure Medical College Gulbarga-India

C T Torax

Cheat �X ray


35

Patchy areas of atelectasis noted in

posterior basal segment of right lower lobe

with loss of lung volume on right side

Hyperinflated left lung possibly

compensatory emphysema,Shift of

mediastinum and cardia to right, herniation

of left lung to right hemithorax, Wedge

shaped soft tissue attenuation in posterior

basal segment of right lower lobe of lung.

Treatment:

Injection Ceftriazone, Injection

Amikacin, Ambrodyl drops, Normal saline

nebulisation

REFERENCE:

1) Horak E, Bodner J, Gassener I et al:

congenital cystic lung disease:

diagnostic and therapeutic

considerations. Clin pediatr 2003; 42:

251-261

2) Karnak I, Senocak ME, Ciftci AO, et al:

congenital lobar emphysema:

diagnostic and therapeutic

considerations. J pediatr journal 1999;

34: 1347-1351

3) Chao MC, Karamzadeh AM, Ahuja G:

congenital lobar emphysema: an

otolaryngologic perspective. Int j

pediatr otorhinolaryngol 2005; 69: 549-

554

4) Mei- Zahar M, Konen O, Manson D,

Langer JC: is congenital lobar

emphysema a surgical desease? J

Pediatr surg 2006; 41: 1058-1061

5) Cumming JR, Macpherson RI, Chernick

V: unilateral hyperlucent lung

syndrome in children. J pediatr 1971:

78; 250-260.


36

Abstract : A 3 year old girl with

clinical hypothyroidism with low T4 and

elevated serum TSH levels had

associated nephrotic range of proteinuria

with elevated lipid profile. Treatment

with steroids and thyroxine replacement

showed improvement in clinical and

laboratory parameters.

Keywords : Nephrotic syndrome,

hypothyroidism, proteinuria

Introduction

Nephrotic syndrome in children

is not an uncommon entity. Although

functional hypothyroidism is known to

occur in nephrotic syndrome, clinical

hypothyroidism is an unusual

association1.We report a case of nephrotic

syndrome with clinical hypothyroidism.

A 3 year old girl presented with

history of constipation, poor activity and

global developmental delay. She was a

term baby, appropriate for gestational age

, born of a non consanguineous marriage.

Physical examination findings included

coarse facies, periorbital puffiness, low set

ears, dry skin, umbilical hernia, mild

ascites and hypotonia. Developmental and

mental age was around 11/2 years .

Anthropometric measurements were

within normal limits. Developmental

delay was noticed at 8 months of age,

for which she was evaluated. Thyroid

function tests done then, were normal.

She had documented proteinuria for

Nephrology Section

HYPOTHYROIDISM & NEPHROTIC SYNDROME �A CAUSE OR EFFECT ?*Nithya T, B Sanjeev Rai, Habib Ullah Khan, Aby Dany Varghese

* Department of Pediatrics, Father Muller Medical College,Mangalore

past 4 months. Present investigations

revealed hypoalbuminemia (1.2 g/dl),

hypercholesterolemia (487mg/dl),

hypertriglyceridemia (602mg/dl) and

proteinuria (urine protein creatine ratio-

6.13). Renal function tests were within

normal limits. Serum C3 level was

normal. Abdominal ultrasound revealed

mild ascites with normal kidneys.

Radiological evaluation showed normal

bone age. The blood levels of total T3 and

T4 were 0.92 (0.8-2.0) and 4.58 (5.1- 12.0)

respectively. TSH was mildly elevated-

6.13 ( 0.27-4.2). Antithyroid antibodies were

negative. Urinary T3 and T4 was detectable

(1.09 and 1.17 respectively).

The child was started on oral

steroids (60mg/m2/day) and thyroxine

(10mcg/kg/day). Proteinuria resolved

within a week of treatment and showed

clinical signs of improvement � disappearance

of edema, better activity and apetite.

DiscussionNephrotic syndrome is characterized

by a marked increase in glomerularpermeability and presents with proteinuria,hypoproteinemia, edema and hypercholesterolemia.2


37

Proteinuria occurs due to changes incapillary endothelial cells, the glomerularbasement membrane, or podocytes, whichnormally filter serum protein selectivelyby size and charge. This results in urinaryloss of macromolecular proteins, primarilyalbumin but also opsonins, immunoglobulins,erythropoietin, transferrin, hormone-bindingproteins ( including thyroid-binding

globulin and vitamin D-binding protein),

and antithrombin III.

Urinary loss of thyroglobulin, free T4

,T3 with consequent fall in T3, T4, TBG

levels and rise in TSH are documented in

children with untreated nephrotic

syndrome and are reversible with disease

remission or following bilateral

nephrectomy and renal replacement

therapy .3,4 There is a positive correlation

between serum albumin and T4 levels ;

and degree of proteinuria and urinary loss

of T4. This is supported by normalization

of thyroid indices with onset of

remission of nephrotic syndrome .5

In our patient, hypothyroidism was

manifested with low T4 and elevated TSH

levels. Absence of thyroid antibodies and

goiter ruled out autoimmune etiology.

Normal thyroid function tests in the

first year of life and normal bone age

in Xray suggests that congenital

hypothyroidism is unlikely. Loss of

thyroid hormone in urine seems the

likely explanation for rising TSH levels

in this child. Thyroid hormone

replacement has resulted in clinical

improvement, which may be tapered

and stopped after attaining remission of

nephrotic syndrome5.

Glomerular disease giving rise to

protein loss with associated endocrine

dysfunction is not confined to thyroid

and clinicians should be alert to

alterations in other hormone systems-

notably hypothalami-pituitary-adrenal axis

and grwth hormone�IGF-1 system6.

In summary, there is an existence

of hypothyroid state in some infants

with nephrotic syndrome. Also, increasing

thyroxine requirements in a case of

hypothyroidism should be evaluated for

proteinuria. Routine thyroid screening

and early replacement therapy if

required, may be recommended for all

children with nephrotic syndrome.

References

1. Muranjan MN, Kher AS, Nadkarni UB,

Kamat JR. Congenital nephrotic

syndrome with clinical hypothyroidism.

Indian J Pediatr 1995;62:233-5.

2. Trouillier S,Delevaux I, Rance N et al.

Increasing thyroxine requirements in

primary hypothyroidism: don�t forget

the urinalysis! J Postgrad Med

2006;52:201-3.

3. Carpi A, Romano F, Massitelli M,

Ciardella F . Low protein supplemented

diet corrects altered serum thyroid

hormone and TSH concentrations in

patients with chronic nephrotic

syndrome. Thyroidology 1990;2:89-92.

4. Chadha V, Alon US. Bilateral

nephrectomy reverses hypothyroidism

in congenital nephrotic syndrome.

Pediatr Nephrol 1999;13:209-11.

5. Fonseca V, Thomas M, Katrak A, Sweny

P, Moorhead JF. Can urinary thyroid

hormone loss cause hypothyroidism?

Lancet 1991;338:475-6.

Haffner D, Tonshoff B, Blum WF, Vickers M,

Siebler T, Cronin MJ, et al. Insulin-like

growth factors (IGFs) and IGF binding

proteins, serum acid-labile subunit and

growth hormone binding protein in

nephrotic children. Kidney Int 1997;52:802-

10.


38

Diagnosing renal disorders inchildren is challenging as manifestations ofrenal disease are vague and subtle. Inaddition, many of the signs and symptomsof renal disease mimic or simulate othersystemic diseases. It is therefore crucial forus pediatricians to have a high index ofsuspicion and bear in mind the clinicaldiversity of kidney disease.

The two important categories ofkidney diseases that present withcontrasting clinical scenarios are glomerulardisease and tubular disease. A typicalglomerular disease (nephrotic syndrome,glomerulonephritis, hemolytic uremicsyndrome) will present with any of thefollowing features of edema, oliguria andproteinuria with or without hematuria andhypertension. On the contrary, a tubulardisease (renal tubular acidosis, Barter�ssyndrome, and nephrogenic diabetesinsipidus) manifests as failure to thrive,growth retardation, polyuria and polydipsiawith or without bony deformities. Aglomerular or a tubular disease couldpresent as acute renal failure/ acute kidneyinjury or progress to chronic renal failure /chronic kidney disease.

Hematuria, oliguria and edema areobvious clinical markers of renal disease.However there are several other markers thatneed to be addressed which help us notmiss an underlying renal disease.

The �RED FLAGS�:

Growth: Failure to thrive, growthretardation or short stature are predominantmanifestations of renal diseases like renaltubular acidosis, Barter�s syndrome,nephrogenic diabetes insipidus, vitamin Ddependent and resistant rickets,vesicoureteral reflux, polycystic renal disease

COMMON PITFALLS IN DIAGNOSING RENALPROBLEMS IN CHILDREN*Dr Arpana Iyengar

*Associate Professor, Division of Pediatric Nephrology,Department of Pediatrics, St John�s MedicalCollege Hospital, Bangalore 560034

and renal dysplasia. In these conditionsthere is suboptimal growth inspite of normalrenal function. Growth retardation is ahallmark of chronic renal failure, childrenwith an underlying tubular disorder beingthe worst affected. Correcting metabolicacidosis helps to optimize growth.

Anemia: This could be the only clueto a probable diagnosis of a renal disease.Anemia is predominant in connective tissuediseases, hemolytic uremic syndrome, acuterenal failure secondary to malaria andintravascular hemolysis.Chronic anemia thatis refractory to iron therapy should beconsidered as a clue to exclude chronic renal failure.

Bony deformities: Every bonydeformity in childhood is not rickets.However, various forms of rickets in manychildren get missed and they end upreceiving orthopedic treatment. It is thereforeabsolutely necessary for us to screen for non-nutritional rickets in children withsignificant bony abnormalities. Rickets isalways diagnosed based on biochemicaland radiological findings. Growthretardation, polyuria and polydipsiaassociated with rickets could indicate renaltubular acidosis or Barter�s syndrome.Rickets predominantly affecting the lowerlimbs associated with teeth abnormalitiesand short stature without polyuria orpolydipsia is characteristic of hypophosphatemicrickets. Renal osteodystrophy presents asbony deformities and is a hallmark ofchronic renal failure.

Hypertension: Childhood hypertensioncan be asymptomatic. It is most often anincidental finding picked up during routineexamination. This emphasizes the need for aregular annual blood pressure recording inall children above 3 years of age. Childrenat risk for hypertension are growth restricted


39

neonates, obese children, children withrecurrent urinary tract infections, onmedications like steroids, cyclosporine andfollowing a glomerular disease.Hypertensive crisis could mimic meningitisor encephalitis with vomiting, headache,altered sensorium and seizures. A finding ofasymmetry in the size of the kidneys willgive a clue to diagnosis of renal arterystenosis. Reflux nephropathy with renalscars could present with hypertension.Hypertension is a manifestation of bothacute and chronic renal failure.

Urine:

Analysis : In day to day practice,transient urinary abnormalities accompanysystemic diseases. Febrile illness can presentwith transient proteinuria and microscopichematuria. It is important to closely followup these findings even after the childrecovers from the acute illness. Persistentproteinuria or microscopic hematuria formore than 2-3months needs a detailedevaluation inspite of the child beingasymptomatic to rule out Ig A nephropathy,Alport�s disease and connective tissuedisease. Microscopic hematuria may be apresentation of stone disease orhypercalciuria. The presence of white bloodcells in urine could indicate urinaryinfection or intake of nephrotoxic drugs likeNSAIDs causing interstitial nephritis.

Stream: Enquiring about the urinarystream, the flow, interruption or intermittentstream is important and could be the onlycomplaint in children with an underlyingposterior urethral valve or neurogenicbladder. Every enuresis is not night timebed wetting. Associated features of voidingdysfunction need to be excluded in childrenwith bedwetting.

Output: Decreased urine output isa straightforward symptom of renal disease.However it may be a symptom even whenrenal functions are normal like in childrenwith nephrotic syndrome and glomerulonephritis.In situations of acute renal failure, one canhave decreased, increased or even normalurine output. Therefore urine output is nota reliable indicator of renal functions. A

normal urine output in the presence ofmoderate to severe dehydration should raisethe possibility of an underlying tubulardisorder. Polyuria is most often missed as asignificant cause for failure to thrive andrecurrent dehydration.

Systemic manifestations: Prolongedfever, joint pains, skin rashes associatedwith hematuria, proteinuria or hypertensionusually indicates connective tissue diseaseor Henoch Scholein purpura nephritis. Feverwithout respiratory symptoms in infantsshould prompt us to rule out urinary infection.

Recurrent symptoms: Recurrence ofsymptoms is the key to diagnosing manyrenal disorders. Recurrent fever could be amanifestation of urinary tract infection,recurrent vomiting could due to metabolicacidosis in renal tubular acidosis, recurrentepisode of dehydration indicates polyurictubular diseases, recurrent hematuria goesagainst a post streptococcal glomerulonephritisand recurrent edema is characteristic ofnephrotic syndrome.

Syndromic associations: Markers for akidney disease at birth would includeabnormal antenatal renal scans (oligohydramnios,polyhydramnios, hydronephrosis, spinaldefects), a single umbilical artery, ear lobedefects, spinal and genital deformities, apalpable bladder or renal mass, hypoplasticlungs and Potter�s facies

Positive family history: A positivefamily history for renal disease could guideus make a diagnosis in children withvescicoureteral reflux, genetic forms ofnephrotic syndrome, tubular disorders andAlport�s syndrome.

Therapeutic indicators: Drugs needdose corrections in the presence of renalfailure and prolonged use of diuretics oraminoglycosides need regular monitoring ofserum creatinine. Children with nephroticsyndrome in shock should be treated withalbumin if they are unresponsive to fluid bolus.

To conclude detecting renal diseasesin children is a challenge which we canovercome with a detailed history taking andmeticulous examination. It would beessential to bear in mind the commonpitfalls in order to avoid missing adiagnosis of renal disease.


40

Polyuria is defined as urine output

more than 4ml/kg/hour. Polyuric child

voids large amount of urine during day and

night as well. Polyuria is usually associated

with polydipsia which refers to excessive

thirst and intake of large volumes of liquid

to quench the thirst.

Accurate measurement of 24 hours

intake of fluids and urine output should be

done to establish the diagnosis of polyuria.

It is important to distinguish polyuria from

frequency of micturition where small volume

of urine passed frequently though the 24

hours urine output is within normal limits .

Polyuria may result from excessive

fluid intake (psychogenic polydipsia ),

increased osmotic load(solute diuresis),

failure to produce ADH(central diabetes

insipidus)or unresponsiveness to the action

of ADH in kidney(nephrogenic diabetes

insipidus). The final osmolality of the urine

is solely dependent on water permeability of

collecting ducts which is controlled by ADH.

Causes of polyuria in children

1.Solute diuresis(increased osmotic load)

Diabetes mellitus(due to glycosuria)

Hypercalcemia(due to hypercalciuria)

Bartter syndrome(due to sodium chloride)

Renal tubular acidosis(due to sodium

bicarbonate)

2. Failure of ADH production(central

diabetes insipidus-hypothalamic /pituitary

disorders)

Pituitary tumour

Post hypophysectomy

Infections-meningitis, encephalitis, tuberculosis

Basal fracture

Vascular aneurysm or thrombosis

EVALUATION OF A CHILD WITH POLYURIA*Dr. Nagamani Agarwal

* Associate Professor of Pediatrics, JJMMC, Davangere

3. Failure of renal response to ADH

Nephrogenic diabetes insipidus(x linked

recessive)

Acquired unresponsiveness to ADH

Obstructive uropathy

Chronic pyelonephritis

Reflux nephropathy

Hypokalemia

Hypercalcemia/nephrocalcinosis

Sickle cell disease

Chronic renal failure due to interstitial

nephritis

Drug induced-ampotericin,lithium,

tetracycline

4. Psychogenic or Primary polydipsia

Children with polyuria due to

pathological conditions may present with

failure to thrive, polydipsia, nocturnal

enuresis,febrile episodes due to dehydration

and convulsion. Failure to thrive is because

the constant increased intake of fluids limits

their appetite. Repeated episodes of

dehydration may result in mental retardation.

A thorough history and physical

examination may provide clues to the cause

of polyuria. Frequency of voiding and drinking

particularly at night is useful information

to assess the severity of the probem.

Physical examination should include

assessment of growth,anemia, hypertension,

bony deformities, renal or bladder mass,

evidence of dehydration and ophthalmic

evaluation.

Investigations and practical approach

First step is to confirm the presence of

polyuria by quantifying the 24 hours urine


41

output. Decide whether polyuria is

associated with polydipsia and failure tothrive Estimate blood sugar to excludediabetes mellitus and serum creatinine forrenal failure .Rule out hypokalemia andhypercalcemia .Arterial blood gas analysisis essential when renal tubular acidosis orBartter�s syndrome are suspected .Urineshould be tested for pH,specific gravity,sugar, protein and pyuria. Ultrasonographyof KUB region with MCU(micturitingcystourethrogram) or IVP(intravenouspyelography) to diagnose refluxnephropathy and obstructive uropathy .CTscan and MRI of brain may be needed whencentral diabetes insipidus is suspected.Urineand plasma osmolality should be assessedto decide if water diuresis is the cause ofpolyuria. Isoosmolar /hyperosmolar urine isfound in children with solute diuresis ornormal children. Ratio of Urine andplasma osmolality is more than 1.5. Inchildren with water diuresis (diabetesisipidus and psychogenic polydipsia) urineis hypoosmolar and ratio is less than 1.

Water deprivation test should bedone only in selected patients suspected tohave water diuresis. It helps to differentiatediabetes insipidus from psychogenicpolydipsia. The aim of water deprivation

test is to induce mild dehydration and thuschallenge the kidneys to preserve water. Ifchild presents with hypernatremia, this testis not necessary. The test carries the risk ofsevere hypernatremic dehydration especiallyin infants.

Water is withheld for 8 to 12 hours.Child is frequently weighed and closelyobserved. The test should be stopped ifweight loss exceeds 5%. The period of waterdeprivation should not exceed 4 hours ininfants and 8 hours in children. Urinespecific gravity and osmolality ,plasmaosmolality and serum sodium are testedevery 3 to 4 hours and at the end of the test. Following water deprivation normal childcan achieve a urine osmolality of over 900mosm/kg and ratio of urine to plasmaosmolality exceeds 1.5. Children withdiabetes insipidus(central or nephrogenic)fail to show a rise of urine osmolality whichremains below 300 mosm/kg water andratio is less than 1.Vasopressin test shouldbe done to differentiate central from nephrogenicdiabetes insipidus. Children with primarypolydipsia concentrate urine to varyingdegrees (>500mosm/kg) as prolongedpolyuria affects concentrating ability ofkidney due to washout of the medullary

counter-current concentration mechanism.Approach to a child with polyuria.


42

Twenty two years old pregnant

woman was referred to pediatric OPD with

history of antenatal left renal

hydronephrosis detected at 30 weeks of

gestation, for advice regarding continuing

her pregnancy. We looked at the following

parameters. Fetal growth and liquor volume

was adequate. Hydronephrosis was

unilateral and there were no other major

congenital malformations. Hence she was

advised to continue her pregnancy and to

review soon after the delivery.

She delivered a normal weight male

baby at term. There was no abdominal

mass or palpable bladder. Urine stream was

good and the baby was feeding well. Baby

was started on antibiotic prophylaxis with

cephalexin and post natal ultra sound was

done on day 5, which showed left sided

moderate hydronephrosis. At 6 weeks of

age diuretic renogram showed left sided

pelviureteric junction obstruction with

differential renal function of 30% in left

kidney. Subsequently, micturating cystourethrogram

(MCUG) was done after administering

gentamycin 3mg/kg ½ hour before the

procedure, which revealed right sided grade

2 vesico-ureteric reflux (VUR).

Left PUJ obstruction with decreased

differential function was managed with

pyeloplasty and right grade 2 VUR was

managed conservatively with antibiotic

prophylaxis. The infant was advised close

APPROACH TO ANTENATALLY DETECTED HYDRONEPHROSIS*Dr. R. Premalatha

* Professor of Paediatrics, Paediatric Nephrologist .Bangalore Medical College & Research Institute(BMCRI) K.R. Road, Bangalore �560002

follow up to detect and treat urinary tract

infection.

This case illustrates that antenatally

detected hydronephrosis requires close

follow up, imaging and surgical or

conservative management. In fetus,

urological abnormalities are the most

common, with the incidence being 1 in 100.

50% of all abnormalities detected by prenatal

ultrasound are due to hydronephrosis.

Significant Hydronephrosis:

On antenatal scan pelvic diameter

>10mm at 24-26 weeks gestation, ratio of

anterio-posterior (AP) pelvic diameter to AP

renal diameter greater than 0.5 and

caliectasis indicate significant hydronephrosis.

Major causes:

}

Physiologic or non-obstructive dilatation of

upper urinary tract refers to mild dilatation,

where no cause is found and is transient.

}

Pelviureteric junction obstruction.

}

Vesico-ureteric reflux.

}

Posterior urethral valves.

}

Ureterocoele

}

Vesico ureteric junction obstruction.

}

Multi cystic dysplastic kidneys.


43

Prenatal management:

Obstruction to urine flow occurring

before 24 weeks of gestation causes

dysplastic changes identifiable by an

increase in echogenecity of kidneys or

cortical cysts. If the obstruction is bilateral

and severe, amniotic fluid volume is

reduced and pulmonary hypoplasia occurs.

This may produce respiratory distress in the

new born and need for ventilation. Hence,

in presence of oligohydramnios, fetal growth

restriction and other major congenital

anomalies detected before 24 weeks,

pregnancy may be terminated. After 32

weeks of gestation, fetus is delivered

prematurely in a tertiary hospital, if lung

maturation is adequate and facilities are

available for management and obstruction is

managed postnatally. Fetal surgeries and

management of cases between 24 to 32

weeks is controversial. Bilateral hydronephrosis

without oligohydramnios and unilateral

hydronephrosis do not need intervention

Post natal management:

Neonates are assessed for abdominal

mass due to hydronephrosis or palpable

bladder. Urine stream is observed and urine

examined to detect urine infection. They are

started on prophylactic antibiotic like

cephlexin 10mg/kg, single daily dose for

first 3 months and thereafter septran 3mg/

kg or nitrofurantoin 1mg/kg is continued for

1year, to prevent urine infection. If imaging

detects obstruction, prophylactic antibiotics

are stopped, to prevent emergence of

resistant organisms.

First ultrasound is done 5 days after

birth, as physiologic oliguria during first

few days of life causes renal pelvis to

shrink transiently. If first ultrasound is

normal it is repeated after 3 months. If

hydronephrosis is detected on post natal

ultrasound, at 6 weeks of age MCU and

diuretic renogram are done. Diuretic

renogram done at 6 weeks is more accurate,

due to increased maturity of nephrons and

increased GFR. MCU is done to detect

vesico-ureteric reflux & posterior urethral

valves. Diuretic renogram is done to detect

pelvi-ureteric junction obstruction.

If hydronephrosis is severe or bilateral

or present in a solitary kidney or bladder is

palpable urgent evaluation and management

is required. As complete obstruction has a

potential to cause renal damage, urethral

catheter should be passed immediately to

drain the bladder and urgent U/S and

MCU are done. If first ultra sound is

normal, it is repeated after 5 days. After

release of obstruction, there will be a

diuretic phase requiring close monitoring

and replacement of fluid and electrolytes.

Uro-sepsis has to be detected early and

treated adequately. In bilateral cases renal

function and electrolytes may be abnormal.

Note that neonates take 1 week to

stabilize their s.creatinine to normal level of

0.4mg/dl from higher s.creatinine level at

birth which reflects maternal level.

Early detection of cases requiring

surgery and prompt referral to surgeons is

important. All children, whether managed

conservatively or surgically, require close

monitoring for UTI, hypertension, protinuria

and renal growth & function.


44

Conclusion:

Majority of antenatally detected

hydronephrosis resolve spontaneously. It is

important to evaluate at birth, monitor and

timely imaging to detect those requiring early

surgery, so that impairment in renal

function is prevented. Prophylactic antibiotic

is started in all neonates with

hydronephrosis, to prevent UTI.

References:

1. Consensus Statement on

Management of Antenatally Detected

Hydronephrosis. IPNG.IAP Indian

Pediatrics; 38: 1244-1251.

2. Gillenwater, et al. Adult and

pediatric urology, 4th ed. Vol 1 2002,

Lippincott Williams and Wilkins,

USA.


45

The Antimicrobial drugs therapy we think, say or do

Edited & Published by Dr.B Sanjeev Rai, Medicare center, Karangalpady, Mangalore 575003.

and Printed at Shrathi Printers & Publishers.Pvt. Ltd.Baikampady. Mangalore 575001

Editorial Office : Medicare Center, Karangalpady, Mangalore 575003,

email: [email protected]

Reg.no.RN/68641/23/AL/TC/92 ISSN 09755152

Antimicrobial Resistance:

No action today, No cure tomorrow

4 Way Test

Is It Economical

and beneficial

to the patient

Is the right Dose & Duration

Is the Best & First line

drug

Is It Essential

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