Paediatric Notes

Paediatric History Presenting Complaint History of Presenting Complaint Systems Review

o General: fever, rash, weight losso CVS: sweating, cyanosis, pallor, SOB, faintso Resp: runny nose, sore throat, earache, cough, SOB, snoring, exercise capacityo GI: appetite, feeding, vomiting, stools, abdominal pain/distensiono GU: urine output, smell, colouro Neuro: headaches, fits, hearing, vision, developmental milestoneso Musc: joint pain or swelling

Past Medical Historyo Chronic conditionso Hospital admissiono Operations

Medications & Allergies Immunisations Pregnancy & Birth

o Born at: ? wks in which countryo Mother’s health during pregnancyo Delivery: normal, instrumental, elective C-section, emergency C-section

Neonatal & Infant Developmento Admission to SCBU, oxygen requiredo Breast-feedingo Do they have red book?o Has anyone been worried about the child’s development?o Age when: smiled, sat unsupported, crawled, used 3-4 words, ate solids, talked, walked

Family Historyo Siblingso Mother & Father age & occupationo Parents blood related?o Diseases that run in the family

Social Historyo Lives with: parents? siblings? adopted?o Lived in the UK since? / Ethnic origino First languageo Accommodation: house/flato Pets / Travelo Alcohol / Smoking / Drugso Schooling

Which year Any problems/concerns Happy at school

Developmental Milestones

Gross Motor Fine Motor & Vision

Hearing, Speech & Language

Social

Newborn Limbs FlexedHead LagPrimitive reflexes

Startles to noise

6 weeks Raise Head (4mths)Primitive reflexes

Fixes & follows moving object (3mths)

Smiles Responsively

6 months Sits without support (9mths)

Reaches for toysPalmar graspTransfers (8mths)

VocalisesTurns to sounds out of sight

Puts food in mouthStranger awareness

10 months CrawlsCruises

Pincer Grasp Parents can discriminate sounds

Waves bye-byePeek-a-boo

12 months Unsteady braod based gait

2-3 words Drinks from cup

18 months Steady walking 3 block tower 6-10 words Uses a spoon to eat2 years 6 block tower

Draws a straight line

2-3 word sentences Symbolic play and potty trained

Primitive Reflexes

Reflex Eliciting DescriptionMoro Sudden head extension Symmetrical extension then flexion

of all 4 limbsGrasp Place object in palm of hand Flexion of the fingers of the hand

around objectRooting Stimulus near mouth Turning of head towards stimulusPlacing Hold infant vertically and place

the dorsum of feet on a hard surface

Child steps with one foot then the other

Positive Supporting reflex Infant held vertically, feet on a surface

Legs support body weight, may push up against gravity

Atonic Neck reflex Head turned to one side whilst supine

Fencing posture with arm outstretch in the direction of the head

N/B - these reflexes should be gone by 6 months

Immunisation Schedule

Age VaccnationsBirth BCG & Hep B (to high risk Groups)2 Months Diptheria, Tetanus, Pertusis, Polio, Hib,

Pneumococcal3 Months Diptheria, Tetanus, Pertusis, Polio, Hib, Men C4 Months Diptheria, Tetanus, Pertusis, Polio, Hib,

Pneumococcal, Men C12 Months Hib, Men C

13 Months MMR, Pneumococcal4 Years Diptheria, Tetanus, Pertusis, Polio, MMR12 – 13 Years HPV13 – 18 Years Diptheria, Tetanus, Polio

NEONATES < 28 days old Full term preg is 37-42 weeks Pre-term preg is < 37wks. Post term > 42 wks. Low BW <2.5kg, V .low BW <1.5kg, extremely low BW <1kg

Infections of the newborn ↑ risk if PROM (>24h), chorioamnionitis, preterm Organisms: Group B Strep, Listeria Monocytogenes, Candida Albinans, HSV

Neonatal sepsis Temp instability - fever, hypothermia Poor feeding Abdo distension Vomiting Apnoea BC Resp distress

Pallor/mottled skin Jaundice Neutropenia Hypo-perglycaemia Shock Irritability Seizures

Ix/Rx: septic screen: FBC, blood culture, CRP, urine/CSF M,C,S + CXR IVABs: o Penicillin/amoxicillin for group B strep, listeria o Ceph for gram -ve bacteria.

Rubella Routine antenatal screening for rubella IgM. Live Vacine before birth if neg. Complications:o <8/40: sensorineural deafness, congenital HD, cataracts/glaucoma, hepatosplenomegaly, dev

delay/IUGR.o 13-16/40: impaired hearing (30%)o >18/40: minimal risk

CMV Most common 40% of infants infected in maternal infection

o 90%: normal at birth and developmento 5%: clinical features of infection at birth:

IUGR Petechiae Jaundice

HSmegaly Pneumonitis Deafness

Encephalitis/microencephaly/IC calcification IQ

Malformations of the Neonate

Down’s syndrome (trisomy 21) 1 in 1000 LBs Sx:o Newborn: ++nuchal skin, hypotonia, sleepyo Facial appearance: round face, epicanthic folds, protruding tongue, upslanting palpebral fissures,

small low set earso Other anomalies: flat occipital, single palmar creases, incurving 5th digit, saddle gap

Complications:o Learning diffo Congenital HDo Duodenal atresiao Recurrent resp inf

o Vision/hearing impairmento Hypthyroid o Leukaemiao Alzeheimers

Patau’s Syndrome (trisomy 13) 1 in 14000 LBs Sx: o Small head and eyeso Absent corpus calloscum with single

ventricleo Heart lesion

o Polycystic kidneyso Cleft lip/palateo Hands show flexion contractures +/-

polydactyl

Edward’s syndrome (trisomy 18) 2nd commonest trisomy Female 2:1 male Sx: o Rigid baby + limb flexiono Odd low set earso Receding chino Proptosis (forward displacement of eyes)o Rocker bottom feet

o Cleft lip/palateo Umbilical/inguinal herniao Short sternum (therefore widely spaced

nipples)o Mean survival 10/12

Turner’s syndrome (45X) >95% result in early miscarriage 1 in 2500 LBs Females only Sx:o Lymphoedema of hands and feet (neonate) o Short stature; webbed necko Wide carrying angle (cubitus valgus)o Widely spaced nipples

o Congenital HD (esp coarctation of the aorta)

o Ovarian dygenesis (infertility)o Normal interlectual development

Dx: o Detect on USS - cystic hygroma and oedema

Rx: o GH and oestrogens

Klinefelter’s syndrome (47, XXY)

1-2 in 1000 LBs Males only Sx: o Infertility (commonest presentation)o Hypogonadism and small testeso Gynaecomastia in adolescence

o Tall statureo N intelligence but psychological probs

Microdeletion syndromes Cri du chat syndrome: High-pitch mewing cry in infancy, CVS abnorms, Microencephaly, Widely spaced

eyes, ‘moon’ face Di George: Congenital HD, cleft palate, thymus William’s: Usually sporadic, face - epicanthic folds, small ears, stellate eyes Angelman’s: Maternal deletion. ataxia, seizures, microencephaly Prader-willi: Hypotonia, obesity, hypogonad, dev delay

Preterm infantsRespiratory distress syndrome (RDS) Due to surfactant def Most babies <28/40 effected Rare at term Rx:o Antenatal corticosteroids (need 24h to act)o Exogenous surfactant: via ET tube, decreasing mortality by 40%o CPAP: increases end exp press. Intubation + ventilation

Pneumothorax In RDS air from overdistended alveoliinterstitium Present in 20% of ventilated infants Sx:o O2 requirement o TV o breath sounds/exp

Rx: o Chest drain o Preventable by ventilating with low press

Apnoea and bradycardia

Temp control Large SA:vol ratio Little subcut fat

PDA May need inotrphic support. Rx with fluid restriction + indomethacin (prostaglandin synthase-I)

Hypotension

Nutrition high nutritional requirement for rapid growth (Suckling reflex develops at 34/40) NG tube, Pref breast milk Consider parentral nutrition Supplement with phosphate, Ca and Vit D (bone mineralization)

Anaemia of prems Fe transferred in last trimester Blood loss from blood samples + inadequate erythropoietin

Infection Increased risk (esp group B strep and coliforms)

Intracranial lesions Interventricular hemorrhage

o High risk if: asphyxia, RDS, pneumothorax Post-haemorrhage hydroencephaluso Sutures separate, incraesed HC, bulging fontanelleo Rx: LP/ventricular tap, shunt

Periventricular leucomalaciao Due to ischaemiao High risk if: inf, hypoT, MZ twins sharing placenta

Renal Low renal flow in fetus. At 28/40 GFR=25% of term. Doubles in 1st 2/52 of life

Necrotizing enterocolitis (NEC) Bowel wall ischaemia (gut microorganisms to colonise bowel wall) Sx: o No feedingo Milk aspirationso Vomiting (bile stained)

o Distended abdoo Blood in stool

Can cause shock if haemorrhagic colitis AXR: shows distended bowel + air in bowel wall/portal tract Rx: stop feeding, IVABs, ventilate/circ support, surgery (if perforated) Complications: strictures, short bowel syndrome (malabs)

Retinopathy of prematurity (ROP) Common (50%) Can cause retinal detachment, fibrosis, blindness (in 1%) Screen all v. low BW at 6-7/52 with opthalmoscopy Rx: Cryotherapy/laser Rx

GOR

Inguinal hernias

Metabolic Hypoglycaemia: maintain BM (>2.6mmol/L) to prevent neurodamage Hypocalcaemia Electrolyte imbalance: due to poor renal function and por resorption Osteopenia of prems: therefore give ca, phosphate, Vit D

Bronchopulmonary dysplasia/chronic lung disease

If infant has prolonged O2 requirements (beyond 36/40) Lung damage is from: press/vol trauma from ventilation, O2 toxicity, inf, ++lung secretion CXR shows: areas of opacification + cystic change Wean infants onto CPAP Complications: inf, cor pulmonale

The consequences of traumatic delivery Injury occurs if baby:o Malpositionedo Too large for pelvic outleto Manual manoeuvres

o Forcepso Ventouse

Soft tissue injuries Caput succedaneum - presents immediately, oedema of scalp, superficial to periosteum, resolves

spontaneously Cephalhaematoma - bleed below periosteum within skull sutures, fluctuant + slower to develop,

resolves over wks, may cause/contribute to jaundice Chignon - large caput from ventouse Bruising – face, genitalia/buttocks if breech, Prems bruise easily Abrasions - from scalp electrodes Subaponeurotic heamatoma – rare, ++blood loss between aponeurosis + periosteum

Nerve palsies Erb’s palsy - upper N root injury (C5 + C6). Straight arm, limp pronated hand. Lower roots injury - less often. Weak wrsit extensor and intrinsic muscles of hand.

Fractures Clavicles - from shoulder dystocia, may hear snap or see lump/callus Humerus/femur - usually mid shaft occurring in breech. Heal quickly if immobilised

Neonatal jaundice Yellow pigmentation of skin/whites of eyes, due to a high bilirubin in plasma Clinically jaundiced = >80-120mol/L

Jaundice <24h Rhesus haemolytic disease ABO incompatibility G6PD deficiency

Jaundice 24h - 2wks of age Physiological - UNCONJUGATED Breast milk jaundice - UNCONJUGATED Infection - UNCONJUGATED Other causes

Persistent jaundice (>2weeks)UNCONJUGATED: Breast milk jaundice - 15%, disappears by 3-4/52 Infection - UTI Congenital hypothyroidism

CONJUGATED (dark urine, pale stools): Neonatal hepititis syndrome Biliary atresia:

Management: Hydration Phototherapy Exchange transfusion

Respiratory distress Signs:

o Tachypnoeao Laboured breathingo Expiratory grunting

o TCo Cyanosis

Admit to SCBU Monitor: HR, RR, sats, circ CXR

Causes o Transient tachypnoea of the newborno Meconium aspirationo Pneumoniao Pneumothorax

o Milk aspirationo Persistent pulmonary HT of the newborno Diaphragmatic hernia

The childhood exanthems MeaslesCause: RNA paramyoxovirusSpread: DropletsIncubation: 7-21 daysSx: Prodrome (catarrh, wretchedness, conjunctivitis, fever)

Conjunctiuvae look glassy, then semilunar fold swells (Meyer’s sign). Koplik spots are pathognomonic, often fade as the rash appears (starts behind ears on day 3-5, then spreads down body becoming confluent).

Complications: Febrile fits, otitis media, meningitis, D&V, keratoconjunctivitis, immunosuppression, subacute sclerosing panencephalitis. Worst complication is encephalitis (headache, lassitiude, fits coma), 15% may die.

Treatment: Isolate in hospital. Ensure adequate nutrition. Treat 2º bacterial inf e.g. Amoxicillin Immunisation: MMR

Chickenpox (Varicella Zoster virus)Presentation: Crops of vesicles of diff ages on the skin, typically starting on back.Incubation: 11-21 daysInfectivity: 4 days before the rash until all lesions have scabbed (1 wk)Spread: Droplet. Immunity is life-long.Tests: Fluorescent Ab tests and Tzanck smears rarely needed.

Course: Fever, rash (2 days later). Macule, papule, vesicle Treatment: Keep cool, daily antiseptic for spots, trim nails, Flucloxacillin if bacterial inf. Anti-VZV

Igs + acyclovir if immunosuppressed or on steroids.Complications: If spots blackish (purpura fulminans) or coalescing and bluish (necrotising fasciitis) Immunisation: With live-attenuated vaccine if pre-cytotoxics/steroids.

Rubella (german measles)Cause: RNA virusIncubation: 14-21 daysInfectivity: 5 days before and 5 days after rash startsSigns: Usually mild, macular rash, suboccipital lymphadenopathyTreatment: SymptomaticImmunization: Live virusComplications: small joint arthritis. Malformations in utero.

RESPIRATORY SYSTEM

Asthma Reversible airway obstruction with wheeze, dyspnoea or cough. RF: o Male o BWo Family Hxo Bottle fed

o Atopyo Past bronchopulmonary dysplasiao Passive smoking

Presentation: o Recurrent wheeze o Cough and breathlessness

o Nocturnal cougho Eosiniophilia and serum IgE

Diagnosis: o Hyperinflation of chest (pectus carinatum and Harrison’s sulcus) o Generalised exp wheeze with prolonged exp phaseo Signs of atopy

Ix: o Skin tests o CXR (hyperinflatio)

o PEFR (in over 5yrs)

Management: o High-dose inhaled B2 bronchodialtor (Salbuatmol or Terbutaline) o Ipratropium nebulised o O2 if low satso IV aminophylline or salbutamol o IV hydrocortisone

Cystic fibrosis Autosomal recessive disorder. Mutations in the CF transmenbrane conductance regulator gene (CFTR) o Abnorm ion transport across epithelial cells of exocrine glands of resp tract and pancreas

Clinical features: o Malabs + FTT from birth + recurrent/persistent chest inf.

o Meconium ileusinspissated meconium causes intestinal obst + vomiting + abdo distension + failure to pass meconium

o Malabs and steatorrheoa due to insufficiency of pancreatic Management:

o Genetic counsellingo Abso Good nutritiono Pertussis, MMR and pneumococcal

vaccinationo Physio 3xday

o Inhaled salbutamol for reversible airway obst

o Lung transplant?o Synthetic Es (pancrex) o Cimetidine (H2-R antagonist)o Vit supplementso High calorie/protein diet

Pertussis Specific and highly infectious form of bronchitis, caused by Bordetella pertussis. Signs: o Bouts of coughing ending with vomiting (+/- cyanosis), o Worse at night and after feeding o Whoop (not always present) is caused by inspiration against a closed glottis.

Peak age: 3yrs Incubation: 10-14days Complications: o Prolonged illnesso Petechiaeo Microhaem

o Herniaso Bronchiecttasis

Rx: o Erythromycin to exposed infants o Admit if <6/12 old

o Live vaccine at 2 months

Bronchiolitis Typical cause: winter epidemics of RSV Signs: o Coryza (coldlike Sx)o Sharp, dry cougho Low fevero Tachypnoeao Wheeze (high pitched exp>insp)

o Apnoeao Intercostal recession +/- cyanosiso Hyperinflation of chest o Fine end-insp crackles

Diagnosis: o Immunoflourescence of nasopharyngeal aspirateso CXR shows hyperinflation of the lungs

Management: o Admit if feeding diff o Supportive care

Should recover in 2 weeks Prevention: o Monoclonal AB to RSV given to at risk

Pneumonia Signs: o Fevero Malaiseo Feeding diff

o Tachypnoeao Cyanosis o Grunting on exp.

o Consolidation o CXR changes Management: o Abs (oral or IV penicillin and erythromycin)o May need O2

TB Signs: o Anorexiao Prolonged low fevero Failure to thrive

o Malaiseo Cough

Diagnosis:o Screen with heaf testo Diagnose with Mantoux test

o CXR: consolidation, cavities, miliary spread

Treatment: o 6/12 of triple therapy (Rifampicin, isoniazid and pyrazinamide) o Dropped to Rifampicin & isoniazid after 2/12. o BCG given to at risks at birth

Croup (laryngotracheobronchitis) >95% of laryngotracheal infections Parainfluenza viruses commonest cause, also RSV Peak age 2yrs Sx: start and worse at night. If severe can treat with oral dex, nebulised steroids and adrenaline

Acute Epiglottitis Med Emergency Caused by H. influenzae type B (incidence due to Hib vaccine) Secure airway, take bloods for culture, start IV Abs (2nd or 3rd generation cephalosporins)

Common cold (coryza) Classsical features: clear or mucopurulent nasal discharge + nasal blackage Commonest pathogens = viruses: rhinoviruses, coronaviruses and RSV.

Sore throat (pharyngitis) Usually due to viral inf with respiratory viruses (adenovirus, enterovirus, rhinovirus) Pharynx and soft palate are inflammed + local lymph nodes are enlarged + tender

Tonsillitis Form of pharyngitis with intense inflammation and purulent exudate Common pathogens: group A -H. Strep and the EBV Marked constitutional disturbances e.g. headache, apathy, abdo pain ABs (penicillin or erythromycin) Avoid amoxicillin

Red Ear Otitis externa (swimmers ear): pain, discharge due to inflammation of the skin of the meatus.

Pseudomonas common organism. Aural toilet is the key to treatment. Otitis media: inflammation of the middle ear and classified on timing: acute, subacute and chronic. o Rx: paracetamol and ABs (amoxycillin/augmentin)

o Complications: COM, mastoiditis, meningitis, cerebral abscess Foreign bodies.

CARDIOVASCULAR SYSTEM

Innocent murmurHeard in up to 30% of all children

Ejection murmur Generated in ventricles, outflow tracts or great vessels on either side of heart by turbulent blood flow No structural abnormalities Soft blowing syst murmur, localised to L-sternal edge, no diastolic component, no radiation

Venous hum Turbulent blood flow in head and neck veins Disappears when lying flat or compressing ipsilateral jug V

Acyanotic congenital heart lesions VSD: o Sx: asymptomatic, heart failure, recurrent chest inf, cyanosis, endocarditiso Signs: parasternal thrill, harsh loud pansystolic ‘blowing murmur’, tachyop, tachycardia, enlarged

livero Ix: CXR=heart, pul A, pul vascular markings. ECG=ventricular hypertrophy, upright T wave=pul

HT.o Course: 20% close in 9/12. Diuretics and ACE-Is. Surgery if pul HT as can cause pul vascular disease.

ABs to prevent bacterial endocarditis.

PDA:o Common in premo Left to right shunt (aortapul A)o Signs: FTT, pneumonias, heart failure, collapsing pulse, thrill, S2, continuous murmur beneath L-

clavicle o Ix: CXR: vasc markings, enlarged aorta. ECG: usually N, LVHo Rx: most close over time. Dex in preterm labour. If symptomatic, Rx with fluid restriction, diuretics,

indomethacin (a prostaglandin synthetase inhibitor). Surgical ligation or transvenous occlusion with coil device.

ASD:o Special form of VSD, often seen in kids with Down’s syn.o Signs: widely split, fixed S2 and midsystolic murmur (2nd IC space of L sternal edge)o Ix: CXR: cardiomegaly, globular heart (primum defects). ECG: RVH +/- incomplete RBBB

Coarctation o Associated with other lesions e.g. bicuspid aortic valve and VSDs.o Neonates present with duct-dependent circ o Sx: circulatory collapse when duct closes, heart failure, murmur between shoulder blades. o Signs: diff in feeling femoral pulses, BP in arms, BP in legs, no foot pulseso Ix: CXR: rib notching (late), due to large collateral IC As running under ribs posteriorly to bypass

obstruction. ECG: RVH in neonate, LVH in older child

o Rx: surgical: resection and end to end anastomosis or balloon dilatation.

Cyanotic congenital heart lesions Tetralogy of Fallot

o 4 cardinal anatomical features: Large outlet VSD Overriding of the aorta with respect to the ventricular septum RV outflow tract obstruction (pul stenosis) RVH

o Signs: cyanosis as ductus closes, hypercyanotic spells, dyspnoea, faints, squatting at play, clubbing, thrills, absent pulmonary part of S2, long, loud ejection systolic murmur at L sternal base.

o Ix: FBC: Hb CXR: small heart, uptitling apex (RVH), pulmonary artery ‘bay’. ECG: RVH and RAD (R axis deviation)

Transposition of the great arterieso When there are 2 parallel circulations: no mixing is incompatible with life (ass. Anormalities)o Sx: usually present day 1 or 2 of life with cyanosis o Signs: cyanosis, clubbing, CCF +/- systolic murmur.o Ix: CXR: narrow pedicle, ‘egg on side’, pul vasc markings. ECG: RVH. Echo: diagnostico Rx: prostaglandin infusion to keep ductus arteriosus open. Life-saving balloon atrial septostomy

NEUROLOGY

Epilepsy Tendency to intermittent, abnormal electrical brain activity Causes: o 70-80% idiopathic, o 2to cerebral dysgenesis o Cerebral damage

o Cerebral tumouro Neurodegenerative disorderso Neurocutaneous syndromes

Generalised epilepsies: o Status epilepticus: multiple seizures, no recovery of consciousness in betweeno Absence, tonic or tonic-clonic seizure disorders may remit; identification of the epilepsy syndrome

involved allows a more accurate prognosiso Atonic and myoclonic seizures may accompany cerebral dysgenesis or a neurodegenerative

disorder and have a poor prognosis Localisation-related epilepsies (focal or partial):

o May arise from any of the 4 lobeso Temporal lobe is most common: ‘complex phenomena’: conciousness, automatisms, deja vu,

jamais vuo Frontal lobe involves motor cortex, patiel tonic, clonic movementso Occipital lobe gives rise to distorted visiono Parietal lobe contralateral dysaesthesias, vertigo + distorted body image

Epilepsy syndromeso Infantile spasms (west syndrome): between 4-6/12, violent flexor spasms of head, trunk, limbs

followed by extension of arms (‘salaam spasms’). Rx with vigabatrin or corticosteroids. Later learning disability and/or epilepsy common.

o Typical (petit mal) absence seizures: 1-2% of childhood epilepsy. onset 4-12yrs. Induced by hyperventilation. Good prognosis, 95% remission in teens

Meningitis Confirmed by inflammatory cells in the CSF Causes: viral are most common and are self-resolving. Bacterial may have severe consequences. Other

causes of meningitis inc: malignancy + autoimm diseases.

Bacterial Meningitis Usually follows bacteraemia. Host response to infection causes most damage. Inflam mediators, activated leucocytes & endothelial damage cause cerebral oedema, IC press and

cerebral blood flow. Organisms:

o < 3 Months: group B strep, E.coli, coliforms, Listeria monocytogeneso < 6yrs: Neisseria meningitidis (meningococcus), strep pneumoniae, H. influenzaeo >6yrs: Neisseria meningitidis, strep pneumoniae

Presentation:o Meningeal signs: stiff neck, photophobia, opisthotonoso IC press: irritable, high-pitch cry, drowsy, vomiting, fontanelle tense (late sign)o Septic signs: fever, arthritis, odd behaviour, purpuric rash (in meningococcus), cyanosis, DIC, ++WCCo Shock: tachycardic, hypotensive, poor capillary refill time, oliguria

Ix: CSF (confirms Dx, identifies organism + AB sensitivity). Bloods, throat swab, rash scraping Rx:o 3rd generation cephlosporin (cephotaxime or ceftriaxone).o Ampicillin in <3/12 oldso Dexamethasone reduces long-term complications

Complications:o Hearing losso Subdural effusionso Disseminated disease

o Hydroencephaluso Brain abscesso Paralysis

o Ataxiao Mental retardationo Epilepsy

Cerebral Palsy Comprises a range of chronic disorders of posture and movement caused by non-progressive CNS lesion

sustained before 2 yrs old, resulting in delayed motor development, evolving CNS signs +/- learning disability +/- epilepsy.

Causes:o Antenatal (80%): cerebral dysgenesis + malfornation, congen inf -rubella, tox, CMVo Intrapartum (10%): birth asphyxia/traumao Postnatal: IVH, meningitis, trauma.

Clinical presentation: o Abnormal tone and postureo Feeding difficulties o Delayed motor milestoneso Abnormal gait once walkingo Developmental delay (language and social skills)

Spastic (70%) Damage to upper motor neurone (pyramidal or corticospinal) pathway limb tone (spasticity), deep tendon reflexes + extensor plantar response distribution of signs:

o Hemiplegia

o Diplegiao Quadreplegia

Ataxic hypotonic (10%) Signs usually symmetrical Early hypotonia, poor balance, delayed motor development Later incoordination movements and intention tremor (cerebellum dysfunction)

Dyskinetic (10%) Leading to constant involuntary movements and poor postural control Intellect may be relatively unimpaired Damage to basal ganglia and associated pathways (extrapyramidal)

Intracranial neoplasms IC press with focal signs +/- false localising signs Sx of ICP:o Headache (worse on lying down)o Vomitingo Papilloedemao Squint (due to VIth N palsy)

o Nystagmuso Ataxiao Behaviour change

Myopathies

The muscular dystrophies Duchenne’s muscular dystrophy:

o X-linked recessive disordero Peak age of Dx = 5.5yrso Waddling gait, climb stairs one by one, ‘Gower’s sign’ + pes cavuso Progressive, in wheel chair at 10-14yrs, death ensues late teens, early 20s.

Becker’s muscular dystrophy:o Some functional dystrophin is producedo Slower progression. Dx at 11yrs, wheel chair late 20s, death 40s

Congenital muscular dystrophies: o Present with muscle weakness at birth/ early infancy

The inflammatory myopathies Benign acute myositis: follows URTI, self-limiting course, pain and weakness. Dermatomyositis: gradual onset, ascending muscle weakness. Heliotrope rash. Post-exercise aches and

pains

Myotonic disorders Dystrophia myotonia: inherited. Hypotonic baby, but classically presents in school age with learning

diff, expressionless face, distal wasting and myotonia.

Metabolic myopathies Present as floppy infant or in older child with muscle weakness + cramps on exercise

Congenital myopathies Presenting at birth or in infancy with generalised hypotonia and muscle weakness Categorised according to appearance of muscle Bx

Headache Causes of acute headache include:

o Febrile illnesso Migraineo Stresso Acute sinusitiso Meningitis/encephalitis

o Head injuryo Benign intracranial HTo Drugs inc alcoholo Subarachnoid/intercerebral haemorrhageo Temperomandibular pain

Causes of recurrent headaches:o Tension headache: symmetrical, gradual onset, tightness (band), frequento Migraine: sudden onset, unilateral, visual and GI disturbanceso ICP: headache worse when lying down, vomiting in a.m.

Ix: CT/MRI if ICP suspected. Rx: advice, reduce stress. Mild analgesics, anti-emetics if vomiting. Prophylaxis for migraine

ENDOCRINOLOGY

IDDM Genetic predisposition and environmental precipitants AI process which damages -cells in pancreas leading to absolute I def Associated with other AI disease e.g. hypothyroidism Dx: symptomatic child with raised random blood glucose (>11.1mmol/L) or fasting blood glucose of

>7.8mmol/L and raised HbA1c Presentationo Most common: polydipsia, polyuria, wt losso Less common: enuresis, skin sepsis, candida and other infections

DKA Insulin def Aetiology: poor control, poor adherence, illness (inf), initial presentation I causes:

o Hyperglycaemia: hepatic production, uptake, proetolysiso Osmotic diuresis: loss of water and electrolyteso Dehydration: due to osmotic diuresis. Dehydration causes: CCA,cortisol,GH,AVPo Ketosis: due to lypolysisFFsketone productiono Acidosis: due to ketones. Therefore metabolic acidosis +/- resp compensation

Presentationo Acetone on the breatheo Vomitingo Dehydrationo Abdo pain

o Hyperventilation (kussmaul breathing)o Hypovolaemic shocko Drowsinesso Coma

HypothyroidismCongenital hypothyroidism Common and Rxable (i.e. preventable cause of learning diff). Causes:

o Maldescent of thyroid and athyrosiso Dyshormonogenesiso Iodine def: o Hypothyroidism due to TSH def:

Clinical features: o FTTo Feeding probso Prolonged jaundiceo Constipation

o Pale, cold, mottled skino Coarse facieso Large tongueo Hoarse cry

o Goitre (occasionally)o Umbilical herniao Developmental delay

Rx: lifelong oral thyroxine, titrating dose to maintain N growth, TSH and T4

Juvenile hypothyroisism Usually caused by AI thyroiditis More common in girls Clinical features:

o Short stature/growth failure

o Cold intoleranceo Dry skino Cold peripherieso Bradycardia

o Thin,dry hairo Pale, puffy faceo Goitreo Slow relaxing reflexeso Constipationo Delayed puberty

o Obesityo Slipped upper

epiphysiso Deterioration in school

worko Learning diff

Rx: thyroxine

CAH AR disorder. More common in consanguineous marriages Abnormal adrenal steroid biosynthesis. Cortisol defACTHadrenal hyperplasia + androgens Presentationo Female virilisation: clitoral hypertrophy, variable fusion of labiao Male: enlarged penis. If a non-salt loser may present with tall stature, PPo Salt-losing adrenal crisis in males presents in 1-3weeks with vomiting, wt loss, floppiness and circ

collapse Dx:o metabolic precursor 17 OH-progesteroneo Salt losers (pNa, pK, metabolic acidosis, hypoglycaemia in crisis)

Mx:o Corrective Sxo Hydrocortisone, saline + dextrose in salt-losing crisis in males

GASTROINTESTINAL SYSTEM

Gastroenteritis Infective diarrhoea and vomiting Rotavirus (60%) Bacterial causes are suggested when blood in stools Rx:

o Fluid replacement Complications: o Dehydration o Malnutrition

o Temporary sugar intolerance

Tests: stools Prevention: hygiene, water and food, education, fly control.

Secretory diarrhoea

Causes: bacteria (campylobacter, staphylococcus, E coli, salmonella, shigella and vibro cholerae), giardiasis, rotavirus, amoebiasis, cryptosporidium. IBD.

Constipation Painful passage of hard, infrequent stools Causes:

o Infant: organic cause most likelyo Older child: non-organic/functional cause most likely

Ix: growth, general and anorectal, faeces palpable per abdomen. Bloods (exclude systemic cause). Plain abdo X-ray may show faecal loading +/- megacolon.

Rx: o Treat underlying organic cause.o dietary fluids and fibreo Stool softeners (lactulose) and stimulants (senna)o Evacuate overloaded rectum (enema or manual evacuation)o Maintenance: stools should be kept soft for 3-6/12. Encourage daily sits on loo.o Parallel psychological help: encouragement by family and health team

Hirchsprung’s disease Absence of ganglionic cells in largenarrow, contracted segment from rectum proximally ending in

normally innervated dilated colon. Presentation: usually as neonate with intestinal obstruction (failure to pass meconium in 1st 24habdo

distension + bile stained vomitus). Can present in 1st few weeks with Hirshsprung’s enterocolitis (C. diff infection), or in later childhood with chronic, profound constipation + abdo distension - soiling.

Ix: DRE: may reveal narrow segment + withdrawing finger causes gush of liquid stool and flatus. Rectal Bx: diagnostic, showing aganglionic cells

Management: colostomy then anastamosing normal bowel to anus.

FTT Ix:

o Hx: mid-parental hts, pregnancy Hx, feeding Hxo Exam: Ht, Wt, head circ, full exam, urinalysis, signs of abuse + neglecto Ix: serial measurements of wt, all bloods, stools, CXR, renal + CNS US, skeletal survey, ECG/echo,

endomysial + antigliadin Abs (coeloiac), sweat test Causes:

o Inadequate intakeo Psychosocial deprivationo Familial short stature o Small-for-dateo Malabsorption o Mental retardation

o Iatrogenic (corticosteroids)o Systemic diseaseo Endocrine o Chromosomal (Down’s)o Metabolic

Rx: of non-organic cause is multidisciplinary in 1care e.g. HV, dietician

Faecal soiling Abnormal after the age of 4yrs With loaded rectum or without loaded rectum Faeces in the rectum is always an abnormal finding

Loaded rectum o Poor coodination with anal sphincter relaxation

o Following febrile illnesso Inhibition for fear of punishment if incontinento Anxieities about using toilet facilities

Rx as you would for constipation + star charts + explain to child and parents about retention and how it leads to incontinence.

Empty rectum Urgency of defecation and can’t hold it in Neuropathic bowel Diarrhoea

General learning disability Child may defecate intentionally to spite

parents

Gastro-oesophageal reflux (GOR) Physiological, asymptomatic reflux may occur in any child/adult but is infrequent Measurements of lower oesophageal pH show that acidity for <4% of 24h is normal More than this results from functional immaturity of LOS Common in under 1yrs, then spontaneously resolves A sliding hiatus hernia is present in some symptomatic infants Severe reflux is uncommon but may be in potentially serious complications:

o Cerebral palsyo Bronchopulmonary dysplasia (chronic lung disease of prematurity)o Following surgery for oesophageal atresia or diaphragmatic hernia

Presentation: o Regurgo Distress after feeds

o Apnoeao pneumonia

o FTT + anaemia

Ix: 24h oesophageal pH monitoring. Barium swallow. Endoscopy and Bx Rx: o Reassuranceo Avoid over feedingo Lie on front

o Thickening agents to feeds (Carobel)o Antacids (gaviscon)

Drugs o Enhance gastric emptying e.g. domperidone o H2-antagonists e.g. ranitidine to reduce oesophagitis

Surgery: fundoplication, oesophageal stricture, recurrent aspiration

Inflammatory bowel disease (IBD) Crohn’s disease

o Present with: abdo pain, diarrhoea + growth failure with pubertal delayo May also present with: oral/perianal ulcers, fever, arthritis, uveitis, erythema nodosum o Diagnosis: barium and colonscopy, ESR and CRP.

Ulcerative colitis o Presents with: rectal bleeding, diarrhoea, colicky pain, wt losso Also: erythema nodosum, pyoderma gangrenosum (acute ulcerating skin), arthritis, spondylitis

(inflammation of synovial joint of backbone)

Coeliac disease Gliadin fraction of gluten provokes a damaging immune response in proximal small intestine Lymphocytic infiltration and villous atrophy Presents in 1st 2yrs of life following introduction of gluten in cereals with:

o FTTo General irritability

o Abnorm stoolso Abdo distension

o Buttock wasting o Presents in later life with anaemia + growth failure

Pyloric stenosis Hypertrophy of pylorus causing gastric outflow obstruction 2-7wks of age, boys 4:1 Presents with:

o Projectile vomiting after feedso Constant hunger

o Hypochloraemic alkalosiso Wt loss and poor Wt gain

Diagnosis: o Visible gastric peristalsis o Pyloric ‘olive’ palpable in RUQ

Intussusception Invagination of proximal bowel into distal Commonest cause of intestinal obstruction in infants, usually 2 months to 2 yrs. Presentation:

o Acute, severe colicky pain and palloro Sausage shaped mass in abdomen

o Passage of red currant jelly stoolso Abdo distension and shock

X-ray shows distended small bowel + absent gas in distal colon and rectum Rx: fluid resus and air enema. Surgical reduction if this fails.

GENITOURINARY SYSTEM

Nephrotic suyndrome (nephrosis) ++proteinuria albumin + oedema + hypoproteinaemia + hypercholestrolaemia Sx: o Anorexia, o GI disturb, o Infections, o Irritability

o Oedema (periorbital, genital), o Ascites, o Oliguria, o Breathlessness

Ix: urine (frothy, +++albumin and casts, Na , blood (albumin, urea and creatinine normal). Renal biopsy in older kids.

Rx:o Low sodium diet limits oedemao Consider furosamide IV + spironolactone POo Prednisolone (course of 3-7/12)

Complications:o Hypovolaemiao Thrombosis

o Infectiono Hypercholesterolemia

Urinary tract infection Presentation:

o Newborn Sx non-specific and may develop rapidly into septicaemia.o Toddlers: present as ‘gastro-enteritis’, FTT, colic, PUOo Older child: dysuria without fever due to vulvitis in girls and balanitis in boys

Collection of sample:o ‘clean catch’ in to sterile poto Adhesive bag applied to perineum, after careful washingo Suprapubic aspiration (SPA) in severely ill child

Diagnosis: culture

Causes:o Infecting organism: E. Coli, Proteus, Pseudomonas o Incomplete bladder opening: infrequent voiding therefore large bladder, vulvitis, hurried

micturition, obstruction from loaded rectum, neuropathic bladder.o Vesicoureteric reflux: developmental anomaly of vesicoureteric junctions therefore urine goes

bladderureters. Management:

o Oral AB (co-amoxiclav) or IV AB (cefotaxime or ampicillino Preventative: avoid constipation, oral fluids, encourage full voiding

Glomerulonephritis Haematuria + oliguria (+/- HT + ureamia) produced by immune mechanism in kidney Peak age 7yrs Causes:

Strep sore throat or skin infectiono HSPo Toxins (heavy metals)o Berger’s disease

o Malignancieso Infection (viruses, SBE, syphilis)o Renal vein thrombosis

Presentation: o Haematuriao Oliguriao BP

o Periorbital oedemao Fevero GI dist

o Loin pain

Ix:o MSU: RBCs, WBCs, red cell castso Bloods: urea, ESR, acidosis, C3 titre

o Renal US, renal Bx

Rx:o Restrict protein in oliguric phaseo Penicillin IV and then PO for strep

infection

o Monitor BP, treat severe HT.

Wilm’s neuroblastoma Malignant tumour composed of embryonic nerve cells Commonest intra-abdominal tumour in children Originates from embryonic renal tissue Rarely seen after 10yrs Presentation:

o Abdo masso Flank pain

o Fevero Haematuria

Ix: US or CT show intrinsic renal mass, mixed tissue densities Rx: avoid Bx. Nephrectomy and 4/52 chemo. Radiotherapy may help

Enuresis Most children are psychologically and physically normal Different types

o 1 nocturnal enuresis: common. FHx of delay in acquiring sphincter competence.o Day time enuresis: nocturnal enuresis usually also present. Common causes are lack of sensation

(behavioural prob), detrusor instability (uncoordinated bladder contraction), bladder neck weakness, UTI, constipation, neurogenic

o 2 enuresis: is the loss of previously achieved urinary continence, may be due to emotional upset (commonest cause), UTI, polyuria

Ix: -MSU, -US, -x-ray (may show vertebral abnorm), MRI (spinal roots) Rx:

o Avoid acrimonous blame, and reassuranceo Fluid restriction before bedo Star chart

o Enuresis alarmo Desmopressin (Short term relief)o Anticholinergic or adrenergic drugs

HAEMATOLOGY

Anaemia Hb below normal range for child’s age and gender. Clinical features:

o Asymptomatic o Pallor

o Tiredness

Management: o IDA: dietary advice and oral Fe therapyo Aplastic anaemias: stem cell or BM transplant, immunosuppressive therapy, ABs

Sickle cell disease Inherited disorders of Hb structure or its production.

Sickle cell (HbS), homozygous state (SS) a.a substitution on codon 6 Hb molecule becomes deformed in low O2, dehydration, cold thrombosis and ischaemia Management:

o Hydrationo Warmtho Analgesiao Blood transfusion

o Blood and BM transplanto Penicillin o Pneumococcal vaccineo Folic acid

Sickle cell trait (AS) Usually asymptomatic except under v.v.low O2 tensions

Sickle cell-Hb C (SC) disease Nearly normal Hb levels, few painful crisis, but may develop proliferative retinopathy

Thalassaemia Syndromes are due to inherited defects of globin chain synthesis or absent chain excess of other type precipitates in RBC membrane cell death in BM and

premature removal from the circ by the spleen

-thalassaemia -thalassaemia major

o Severe anaemia and jaundice from 6/12 + FTT + hepatosplenomegalyo Extramedullary haemopoesis BM expansion classical faces (maxillary overgrowth and skull

bossing)o Rx: reg blood transfusion and chelating therapy. BM transplant is curative.

-thalassaemia intermediao Clinical manifestations are more variable

o Anaemia is moderateo Blood transfusion sometimes required

-thalassaemia minoro Asymptomatico onfused with mild IDA and lead to unnecessary Fe therapy

-thalassaemiao More common in Asianso 4 gene del: fetal hydrops and death in utero.o 3 gene del: moderate chronic haemolysis.o 1-2 gene del: no clinical Sx

Leukaemia Presentation:

o Malaiseo Infectionso Pallor

o Abnormal bruisingo Hepatosplenomegalyo Lymphadenopathy

o Bone pain

Ix: low Hb. leukaemic blast cells on film. BM aspirate needed for diagnosis. CSF Treatment

o Remission induction: correct any aneamia, infection, then 4/52 combo chemoo Intensification: blocks of intensive rx given to maintain remissiono CNS Rx: by intrathecal chemo, cranial irradiation, high dose methotrexateo Continuing therapy: modest intensity for long time 3 yrs.o Treatment for relapse: high dose chemo with total body irradiation, BM transplant.

DERMATOLOGY

Eczema Atopic (commonest), allergic (type VI hypersensitivity) or caused by irritants or venous stasis. Diagnosis: clinically + IgE + specific allergens identified with skin prick and (RAST). Clinically:

o Itch o Classic distribution,

o Dry skin, o Lichenification

Management:o Avoid irritantso Emollientso Topical corticosteroidso Occlusive bandages

o ABs and antiviralso Antihistamines: H1 histamine antagonistso Dietary eliminationo Psychosocial support: National Eczema

Society

Psoriasis Rare before the age of 2 Guttate type:

o Most common in childreno Follows strep/viral sore throat or ear infectiono Lesions small, rain-drop shaped, round/oval scaly patches on trunk and upper limbso Resolves in 3-4/12o Rx: bland ointments. Coal tar preparations. Dithranol for chronic plaques

Pityruasis Rosea: o Acute benign, self-limiting of viral origin

o single round scaly macule (2-5cm) in a few days numbers of smaller dull pink macules on trunk, upper arms and thighsrash spreads in line with ribs posteriorly ‘fir tree pattern’.

o Sometimes itchy o No Rx required resolves in 4-6wks

MUSCULOSKELETAL SYSTEM

Variations of normal posture Bow legs (genu varum)

o Bowing of the tibiae causing knee to be wide aparto Common in 0-3yrs, no need for Rx

Knock-knees (genu valgum)o Feet are wide apart when knees held together. Seen in 2-7yrs, usually resolves.

Flat feet (pes planus)o Toddlers learning to walk have flat feet, due to flat medial longitudinal arch + fat pado Marked flat feet can be a presentation of a collagen disorder e.g. Ehlers-Danlos syno Rx with exercises, arch support in shoes, surgery for symptomatic adolescent

In-toeingo 3 main causes:

Metatarsus varus: an adduction deformity of a highly mobile forefoot Medial tibial torsion: at lower leg when tibia is laterally rotated less than normal Persitent anteversion of the femoral neck: at the hip when femoral neck is twisted forward

more than normal Out-toeing

o Uncommon, but may occur in infants between 6-12 monthso When bilateral it is due to lateral rotation of the hips and resolves spontaneously

Toe walkingo Common in 1-3yrs. If persisting: CP, tight Achilles tendons, Duchenne’s Muscular Dystrophy

DDH (Developmental Dysplasia of the Hip) At risk babies:

o Breech o Caesarean for breecho BWo Older mother

o +ve FHxo Postmaturityo Other malformationso Oligohydramnios

Diagnosis: examine hips at day 1 and at 6 wks.o click test of Ortolani:o Barlow manoeuvre

US: image of choice. Rx:

o Positioning device in abduction (Craig splint) o Restraining device (Pavlik harness)

Club foot (talipes equinovarus) Positional talipes from intrauterine compression is common. Foot is normal size, deformity is mild and

can be corrected to the neutral position with manipulation. Talipes equinovarus is a complex abnormality.

1. Inversion 2. Adduction of forefoot relative to hindfoot 3. Equinus (plantar flexion)

o 2x more common in maleso Rx: start in 1st wk with foot manipulation, strapping and splinting. If Rx not worked after 3 months

operative reduction is carried out.

Juvenile chronic arthritis Now called Juvenile idiopathic arthritis = a group of conditions where arthritis for > 6wks in kids under

16yrs.

Systemic arthritis (‘Still’s disease’) Affects young children Sx:

o Acute illness/malaiseo High, spiking fevero Anorexia, wt losso Salmon pink rash when fever high

o Arthralgia/myalgiao Hepatosplenomegalyo Hb, neutrophil + platelets + acute

phase reactants Some recover without getting chronic arthritis, others develop polyarthritis

Polyarticular All ages. Girls > boys. Usually symmetrical involvement of wrists, hands, knees and ankles Polyarticular disease + rheumatoid factor = ‘juvenile rheumatoid arthritis’

Pauciarticular/oligoarthritis Usually in young children. Usually knees, sometimes ankles and wrists. risk of eye disease, especially girls with antinuclear Abs (ANA) ‘Extended oligoarthritis’ when further larger joints are involved after 6 months

Enthesitis-related arthritis Affects older boys. Large lower limb joints affected and a ‘sausage finger’ May have HLA-B27 tissue type and FHx. Acute iritis common.

Juvenile psoriatic arthritis Involes interphalangeal jts therefore ‘sausage fingers’ + skin lesions + nail pitting

Hip diseases in childhood Transient synovitis (TS, irritable hip)

o Most common cause of acute hip paino Occurs at 2-12yrs. Follows viral ino FBC, blood cultures and x-ray usually normal. Joint effusion on US. No pain at resto Rx: bed rest and skin traction. Usually better in few days.

Perthes diseaseo Ischaemia of femoral epiphysisavascular necrosisrevascularisation + reossification.o Age 5-10yrs. o Male:female 5:1. Bilateral in 10-15%o Onset insidious, limp, hip pain

o Ix: X-ray shows density in femoral heads. Bone scan and MRIo Rx: bed rest and traction. In more severe disease maintain hip in abd with plaster

Slipped upper femoral epiphysiso Displacement of epiphysis of femoral head postero-inferiorly. Bilateral in 20%o Most common in 10-15yrs, during adolescent growth esp obese boyso Presentation: may be acute after minor traumao Sx: limp, hip, groin pain (referred to knee), limited movements.o Ix: diagnosis by X-rayo Rx: surgical (pin fixation in situ)

Osteomyelitis Infection in the metaphysis of long bone. Common sites distal femur + prox tibia. Causes: Staph aureus, strep, H. influenzae, TB Presentation: painful, immobile limb, fever, swelling, tenderness, red, warm over affected area Ix: blood culture +ve, WBCs and acute-phase reactants. Bone scan identifies site of infection.Rx: IV ABs for several weeks, then oral. Surgical drainage if not responding quickly to ABs. Limb rested in

splint then mobilised.