spastic quadriplegia with motor, cognition delay with vision and hearing impairment with ...

Dr. Shubhra Prakash PaulMD (Ped.) Part III

Bangladesh Institute of Child Health

Name Ahian

Age 1year 8months

Sex Male

Residence Shahjahanpur, Badda

Date of Admission 27/05/2017

Date of Examination 02/6/2017

Informant Mother

Particulars of the Patient

• Increased frequency of convulsion for 3 days

• No neck control till date

• Stiffness of all 4 limbs from 3rd month

Presenting Complaints

According to the statement of informantmother, her child was delivered normallyat term at a clinic following home trialand prolonged labor. Baby cried about 30minutes after birth. Then there developedconvulsion within few hours of birth. Withthese complaints she admitted her childin a local hospital and discharged aftercontrol of convulsion with syp.Phenobarbitone.

History of Present Illness

The baby was relatively stable up to 3months of his age. Then he developedrepeated convulsion, which was suddenjerky contraction of neck, trunk andextremities, more in awakening, occurring8-10 times a day, persisting for 2-3minutes in each episode. She also noticedthat her child had not achieved neckcontrol yet and stiffness of all limbs from3 months of age.

History of Present Illness (contd. ..)

For these complaints the baby was onoral drugs and under regular follow up atneuro-disability clinic of a tertiary levelhospital. For last three days Ahiandeveloped high grade intermittent feverwhich subsided after taking antipyretics.The frequency of convulsion increased up14-16 times a day. As the number ofconvulsion increased they admitted himfor further evaluation and management.

History of Present Illness (contd. ..)

There is no significant past illness.History of Past Illness

He had no history of neonatal jaundice or any sib death.

History of Present Illness (contd. ..)

Birth History

Antenatal

Mother was on irregular antenatal

checkup. There was no history of

maternal fever with rash, jaundice,

Urinary Tract Infection, PROM, PIH or

GDM. Her blood group was A positive.

Birth History

NatalAhian was delivered normally at a

clinic following failed home trial. He

cried 30 minutes after birth and

developed generalized convulsion

for which he was admitted in a

SCABU of a local hospital.

Birth History (contd..)

Postnatal

Ahian stayed 7 days at that hospital,

then discharged after control of

convulsion. He passed meconium

and voided urine on 1st day.

Feeding History

After birth, during hospitalization Ahian

was on IV fluid and N/G tube feeding for

first 4-5days. Then breastfeeding was

started and continued up to 9 months of

age, followed by complementary family

food.

Immunization History

Immunization is ongoing as per EPI

Schedule.

Milestone of Development

Social smile present and can

recognize mother but no interaction.

No neck control achieved.

No babbling , only crying sound.

Treatment History

During infancy he was treated with oral

phenobarbitone after discharge from

hospital.

He was receiving Syp. Levetiracetam,

Syp. Valproate and Syp. Carbamazepine

as prescribed by the outpatient dept. of

neuro-disability clinic prior to admission.

After admission anti epileptic drugs were

continued and some injectable antibiotics

were added.

Family History

He is the third issue of his non-

consanguineous parents. Other sibs and

family members are healthy.

Socioeconomic History

His father is a automotive driver and his

monthly income is about tk. 20,000/-. His

mother is a housewife.

Ahian, 1yr 8 months old male infant

Physical Examination

General ExaminationAppearance Alert, playful, no facial

asymmetry

Anemia Mildly pale.

Jaundice Present.

Cyanosis

Edema

Dehydration Absent

Koilonychia

Leukonychia

General Examination (contd.)

Skin Survey BCG mark Present

Lymph nodes Not palpable

E.N.T. Normal

Fontanelle Closed

Sign of Meningeal irritation

Absent

Physical Examination (contd.)

Physical Examination (contd…)

General Examination (contd.)

VitalsPulse 110/min.

BP 80/55 mm of Hg (50th

centile)

Resp. Rate 20/min.

Temperature 990F

Physical Examination (contd…)

General Examination (contd.)

AnthropometryLength 78 cm

Weight 9.5 kg

OFC 41 cm (-) 3SD

Weight for Age SD

Length for Age SD

Weight for

Length

SD

Systemic Examination

Examination of Nervous System

Higher psychic functionConscious but no interaction to the

surroundings

Cranial nerves examination Pupil was normal in size and shape,

reacting to bright light and eye moves in

in all direction

Light Reflex : Normal in both eye

Fundoscopy : Normal

Systemic Examination

Examination of Nervous System

Cranial nerves examination (contd.)No facial asymmetry

No drooling

Normal sucking and swallowing

Systemic Examination

Examination of Nervous System (contd…)

Motor FunctionMuscle bulk Normal in all 4 limbs

Muscle tone Increased in all 4 limbs, more

in upper limbs

Muscle

power

3/5 in all 4 limbs

Jerks Exaggerated in all 4 limbs

Plantar Bilaterally extensor

Ankle clonus Present(Bilateral )

Systemic Examination

Examination of Nervous System (contd…)

Systemic Examination

Examination of Nervous System (contd…)

Systemic Examination

Examination of Nervous System (contd…)

Involuntary movement : Absent

Sensory function : Intact

Neurodevelopmental assessment

Gross motorPull to sit Head lag present

Prone position Chin could not lift

Fine motorCould not hold object even placed in

hand and occasional fisting and release

of hand

Systemic Examination

Neurodevelopmental assessment (contd..)

Vision Fix and follow bright light

Hearing Alert on rattle sound

Speech No babbling, crying only

Cognition No social smile

Could recognize mother’s lap,

touch and voice

Developmental age corresponds to

3 months

Systemic Examination

Examination of other systems including

respiratory system revealed normal

findings.

Ahian, a 1 year 8 months olddevelopmentally delayed male child 3rd

issue of non-consanguineous parentspresented with the complaints of discretemyoclonic seizures with no neck controltill date and stiffness of all limbs from 3months of age. He had a history ofperinatal asphyxia with HIE II. He had nohistory of neonatal jaundice, sib death orany significant maternal illness duringpregnancy .

Salient Features

He was not interested to thesurroundings, having microcephaly andmild pallor. Vitals were normal. He wasmildly under weight and stunted. He hadhypertonia, hyperreflexia, bilateralplantar extensor with ankle clonuspresent. Developmentally he correspondsto below 3 months, with impairment ofvision and hearing.

Salient Features (contd.)

Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with epilepsy.

Provisional Diagnosis

• Neurometabolic disease

Differential Diagnosis

Complete Blood Count (28/05/2017)

Hemoglobin 8.1 gm/dL

Total count of WBC 3,100 /cu mm

Diff. count of WBC

N - 50% L –44%

M - 04% E – 02%

Platelet count 4,23,000 /cu mm

Laboratory Investigations

Complete Blood Count (contd….)

FilmRBC – Anisopoikilocytosis including both macrocytes, microcytes, some pencil shaped cells and a few target cells seen. WBC – MaturePlatelets – Adequate.

CommentFeatures suggestive of combined deficiency anemia with leucopenia.

Laboratory Investigations

CSF study (27/05/2017)

Physical Examination

Color Watery

Appearance Clear

Cytology

Total Leucocyte 02/mm3 (100% Lymphocyte)

RBC 00/mm3

Biochemistry

Protein 20 mg/dL

Sugar 80 mg/dL

Staining

No Gram or Ziehl-Neelsen stained organism found.

Laboratory Investigations

(27/0

5/2

017)

RBS 4.2 mmol/L

Serum Calcium 2.1 mmol/L

Urine R/M/E Normal study

Serum Electrolytes (mmol/L)

Na+ K+ Cl-

141.5 5.2 100.5

(19/0

7/2

016) TSH 1.82 mIU/L (0.47 – 5.01mIU/L)

T3 1.65 nmol/L (1.21 – 3.08 nmol/L)

T4 146.53 nmol/L (62.5 – 158.5 nmol/L)

Laboratory Investigations

Laboratory Investigations

Laboratory Investigations

Laboratory InvestigationsCT Scan of Brain

No evidence of hemorrhage, infarct or

mass lesion is seen in the both

cerebral hemispheres.

3rd and both lateral ventricles are

dilated.

External CSF spaces are widened.

Impression:

Generalized cerebral atrophy.

Laboratory Investigations

Laboratory Investigations

EEG (05/06/2017)Comments:

The EEG record shows severe

abnormalities with slow spike wave

discharges and burst-suppression pattern

of discharges. Background also shows

polymorphic activities and poverty of

reactivities to external stimuli.

The feature is suggestive of Epileptic

Encephalopathy and compatible with

Lennox-Gastaut syndrome.

Spastic quadriplegia with motor, cognition delay with vision and hearing impairment with microcephaly with Lennox-Gastautsyndrome.

Final Diagnosis

Restoration of attainable functional abilities

Aims of Management

Management

Multidisciplinary team approach

Pediatricia

or

Neurologis

Ophthal-

mologist

Physiother

apist

Social

worker

Occupation

therapist

Otolaryngo

-logist

Management

Counseling

Counseling of Parents and caregiver

It is not a mental illness

Not a progressive disease

Not a curable disease

Child’s disability can be minimized and

improving the quality of life with proper

management

He needs life long management

support.

Management

Drug Therapy

Management

Other measures Developmental therapy and stimulation

Vision and hearing assessment

Psychological assessment

Family support and follow up

Thank You