Know the formula of mid-parental height?

Is guthries’ test normally down? Or just taken from cord blood?

● Congenital hypothyroidism
● CF
● Phenylketonuria
● Maple syrup urine disease
● Medium-chain acyl coa dehydrogenase deficiency
● sca

Fluid requirement

? why cough and fever asked about facial congestion

Aspiration pneumonia?

IUGR
- Symmetrica all below 3rd centile
- Asymmetrical only head circumference above 3rd centile

Neonatal problems
● Meconium aspiration syndrome
? jaundice
● Congenital hypothyroidism
? jaundice

- SCA
- Th
- G6pd -
- Hereditary spherocytosis
● Inherited abnormal bleeding
- Hemophilia A
- Hemophilia B
- Von willebrand disease
● Petechiae or purpura
- Non-thrombocytopenic
● Henoch scholein purpura
● Sepsis
● trauma
- thrombocytopenic
● Immune thrombocytopenia
● Leukemia
● Dic
Clubbing
● Chronic suppurative lung diseases
- Cystic fibrosis
● Cyanotic heart disease
Cardiovascular system
 ● Collapse in PDA & aortic regurgitation
● Surgery- median sternotomy/ left lateral thoracotomy
● Right ventricular hypertrophy- lower left sternal edge
● Can check liver in heart failure
- Tachypnea
- Tachycardia
- Cardiomegaly
- Hepatomegaly
● Significant murmur
- Heard all precordium
- Loud
- Thrill grade 4- 6
- Diastolic murmur
- Any other abnormal signs
- Timing, duration, loudness
● systolic/ diastolic/ continuous
● Mid-systolic (ejection)/ pansystolic
● grades
1-2: soft, difficult to hear
3: easily audible, no thrill
4-6: loud with thrill
- BACK- pulmonary stenosis, aortic coarctation
- NECK- aortic stenosis
- Under clavicle- PDA
- Syndromes with cardiac lesions
● Trisomy 21
● Turner’s syndrome
● Digeorge
● Williams
● Edwards
● Patau
CHD ● Maternal disorders
● Maternal drugs
● Chr. abnormality
- Down syndrome
- Turner syndrome

Left to right shunts ● Atrial septal defect

- Fixed splitting of 2nd heart sound [INS & EXP]
- Ejection systolic murmur in pulmonary area
- ? well child, more frequent chest infection, incidental murmur
● Ventricular septal defect
● PDA
Right to left shunts (HIGH ● Tetralogy of fallot
PRESSURE RIGHT) - Cyanosed relieve with squatting
 -

● Transposition of the great arteries

 ●
● Eisenmenger syndrome

Common mixing (Blue & ● Complete AV septal defect

breathless) ● Complex congenital heart disease
● Tricuspid atresia

Outflow obstruction ● Aortic stenosis

(asymptomatic + murmur) ● Pulmonary stenosis
● Adult- type coarctation of the aorta
- Posterior narrowing - best heard in between the scapula
- Radio-femoral delay

Outflow obstruction in a sick ● Coarctation of aorta

neonate (collapsed + shock) ● Interruption of the aortic arch
● Hypoplastic left heart syndrome
Heart failure ● Harrison sulcus

●
Cardiac arrhythmias

Supraventricular tachycardia

Congenital complete heart

block

syncope 6

Chest pains

Rheumatic fever
(ACQUIRED)

Infective endocarditis
(ACQUIRED)

Myocarditis/ cardiomyopathy
(ACQUIRED)

Kawasaki disease (acquired)

Pericarditis (acquired))
Respiratory system
● DULL - collapse, consolidation, fluid
● Check for lung hyperinflation
- Bronchiolitis
- asthma
 ● Grunting is most often heard in a person who has pneumonia, pulmonary edema, or
fractured or bruised ribs
● Prolog inspiratory phase – laryngeal obs Prolonged expiratory phase – tracheal obs

Mediastinal shift ● pneumothorax

URT- stridor
LRT - wheeze ● Acute
- Acute bronchiolitis
● Fine end inspiratory crackles / rhonchi
- Asthma exacerbation

● chronic
Abdominal system
- Hepatomegaly
● Congenital infection, infectious mononucleosis, hepatitis, malaria, parasitic
● SCA, Th
● Chronic active hepatitis, portal hypertension , polycystic diseasescc
 ● Leukemia, lymphoma, neuroblastoma, wilms tumor, hepatoblastoma
● Glycogen & lipid storage disorders, mucopolysaccharidoses
● Heart failure
- Splenomegaly
● Viral, bacterial, protozoal (malaria, leishmaniasis), parasites, infective
endocarditis
● Hemolytic anemia
● Leukemia, lymphoma
● Portal HTN, systemic juvenile idiopathic arthritis (still’s disease)
- MASS
● Wilms’ tumor- not cross the midline
● Neuroblastoma- irregular mass, cross the midline
● Fecal mass- mobile, non-tender, indentable in left iliac fossa
● Intussusception- unwell, may be palpable, right upper quadrant
Congenital ● Potter syndrome
● AR Polycystic Kidney disease
● AD Polycystic KIdney disease
● Prune- belly syndrome
● Congenital TORCHES
- Growth restriction
- Intracerebral calcification
- Hydrocephalus
- Microcephalus
- Deafness
- Eye defects: cataracts, microphthalmia, retinitis
- Pneumonitis
- Hepatomegaly
- Heart defects (cardiomegaly, PDA)
- Splenomegaly
- Virus in urine (rubella, cmv)
- Bone abnormalities
- Blueberry muffin or petechial
- Anemia
- Neutropenia
- thrombocytopenia
UTI

Enuresis

Proteinuria ● Nephrotic syndrome

Hematuria ● Acute nephritis

- Post-strep & post infectious nephritis
● Henoch-schonlein purpura
● IgA-nephropathy
● Familial nephritis
● Vasculitis
● SLE

HTN

Renal mass

Renal calculi

Renal tubular disorder ● Generalized proximal tubular dysfunction (fanconi

syndrome)
Acute kidney injury

Hemolytic uraemic syndrome

Chronic kidney disease

Neonatal cholestasis

Iron overload Chelator

● ORAL
- L1 (deferiprone)
● GI upset
- Exjade (deferoxamine)
● GI upset
● Transaminitis
● proteinuria
● INFUSION
- Desferal
● Ototoxicity
● Bone deformity
Neurological examination

● CMT- PMP22 gene duplication

● Myopathic face- myotonic dystrophy/ neuromuscular disease
- Expressionless
- Ptosis
- Drooping corners of the mouth
● - Unilateral ptosis (CN III palsy)
- Bilateral ptosis (myasthenia gravis)
● Spinal muscular atrophy
- Tongue fasciculation
● Muscle bulk
- Wasting
● Cerebral palsy
● Meningomyelocele
● Muscle disorder
● poliomyelitis
- Increase calf muscles / pseudohypertrophy
● Duchenne muscular dystrophy
● myotonic
- contractures/ windswept posture
● Hypotonia
● Restricted movement in utero

● Fluctuating tone- dystonia

● Pyramidal dysfunction
- Increase tone (spasticity)
● Adductors
● Internal rotators of hips
● Ankles clonus
● Pronation of forearm at rest
- Babinski upgoing
- Heel to toe

● Truncal tone
- Extra- pyramidal tract (extensor posturing)
● Coordination (must remember)
- Finger nose testing
- Heel- to toe, jump, hop
● Sensation
- Meningomyelocele
- Transverse myelitis
● Broad based gait
- Cerebellar
- Lower limb weakness
● Waddling gait
- Proximal muscle weakness
● Walk on heel
- Foot drop
● Hereditary motor sensory neuropathy
● Gower sign
- Turn prone to rise
- Straighten arms
- Use hands to walk up the legs to stand

● Encephalopathy
- meningitis/ meningoencephalitis
- Status epilepticus/ postictal
- trauma/ accidental/ non- accidental
- Intracranial tumor/ hemorrhage/ infarct/ abscess
- Metabolic
● Diabetes mellitus
● Hypoglycemia
● Inborn errors of metabolism
● Hepatic failure
● Acute renal failure
- Poisoning
- Shock
- Hypertension
- Respiratory failure

Headache ● Primary
- Tension
- Migraine +_ aura
- Cluster & trigeminal autonomic cephalalgias
● Secondary
- Raised icp
● Cranial neuralgias, central & primary facial pain

seizures ● Epileptic
- Generalized
● Absence
● Myoclonic
● Tonic
● Tonic-clonic seizure
● Atonic seizure
- Focal
● Frontal seizure
● Temporal lobe seizures
● Occipital
● Parietal lobe seizure

- syndrome
 ● Infantile spasms ( west syndrome)
● Lennox-gastaut syndrome
● Childhood absence epilepsy
● Benign rolandic epilepsy
● Panayiotopoulos syndrome
● Juvenile absence epilepsy
● Juvenile myoclonic epilepsy
- Status epilepticus
● Febrile

● Acute symptomatic seizures

- Stroke, tbi, intracranial infection
- Hypoglycemia
- Hypocalcemia
- Hyponatremia
- hypernatremia

paroxysmal ● Breath- holding spells

● Reflex asystolic syncope
● Migraine
● Syncope
● Benign paroxysmal vertigo

motor Central
● Cp
● Cst (pyramidal)
- Cerebral dysgenesis (neuronal migration disorder)
- Global hypoxia-ischemia
- Arterial ischaemic stroke
- Cerebral tumor
- Acute disseminated
- Encephalomyelitis
- Postictal paresis
- Hemiplegic migraine
● Bg
- Acquired brain injury
- Post-strep chorea (rheumatic fever)
- Mitochondrial cytopathies
- Wilson disease
- Huntington disease
 - Vit e deficiency
- Pontocerebellar hypoplasia
● cerebellar
- Acute (medications, drugs, alcohol, solvent abuse)
- Post viral (vzv)
- Posterior fossa lesions/ tumors (medulloblastoma)
- Genetic & degenerative (friedreich ataxia, ataxia
telangiectasia)
● Post- infectious neurological syndrome\
- Gray matter- acute necrotising encephalopathy of
the childhood
● Bilateral, symmetrical thalamic
- White matter- acute disseminated encephalomyelitis
+_ bg
- Target NMDA receptors
Peripheral
● Anterior horn cells
- SMA
- Enterovirus- acute flaccid MYELITIS
- poliomyelitis
● Peripheral neuropathies
- CMT
- GBS ( acute postinfectious polyneuropathy)
- Bell palsy & facial nerve palsy
● Neuromuscular transmission
- Myasthenia gravis
● Juvenile
● Congenital
● Muscle disorder
- DMD
- BMD
- Limb girdle muscular dystrophies
- Congenital muscular dystrophies
- Congenital myopathies
- Metabolic myopathies
● Inflammatory myopathies
- Benign acute myositis
- dermatomyositis
● Myotonic
- Dystrophia myotonica type I
● Ataxia
- Friedreich ataxia
- Ataxia telangiectasia
- Hereditary cerebellar ataxias
● Cerebrovascular disease
- Intracranial hemorrhage
● Extradural
● Subdural
● sah
- stroke
● Microcephaly & macrocephaly
● NTD & hydrocephalus
- Anencephaly
- Encephalocele
- Spina bifida occulta
- Meningocele
- Myelomeningocele
- Non-communicating
● Congenital malformation
- Aqueduct stenosis
- Atresia of outflow foramina of 4th
ventricle
- Chiari malformation (cerebellar
tonsils, herniation through foramen
magnum)
● Posterior fossa neoplasm/ vascular
malformation
● IVH
- Communicating
● SAH
● Meningitis (pneumococcal, TB)
● Neurocutaneous syndrome
- Neurofibromatosis
( NF1 : CN II & VII
NF2
- Tuberous sclerosis
● angiofibroma
- Sturge weber
● Port wine stain
● Neurodegenerative
- adrenoleukodystrophy
Developmental examination

Cerebral palsy ● Gross motor function classification system

(GMFCS)
I- walks without limitations
II- walks with limitation
III- walks with handheld mobility device
IV- self-mobility with limitations; may use
powered mobility
V- manual wheel-chair

1) Spastic (bilateral, unilateral)

- Hemiplegic
- Diplegic
- quadriplegic
2) Dyskinetic
- Dystonia
- Athetosis
- chorea
- * associated with chronic bilirubin
encephalopathy
3) Ataxic (hypotonic)
4) Mixed pattern

Congenital myopathy/ primary muscle

disease

Spinal cord lesion: spina bifida

GDD- in syndromes

Heart failure ● Gross motor delay

Emergency cases
● Respiratory failure
● Shock
● Sepsis
● Anaphylaxis
● Convulsive status epilepticus

Genetic
● chr
 - Number
● Down syndrome (trisomy 21)
- Nondisjunction
- Translocation
- mosaicism
● Edwards (trisomy 18)
● Patau (trisomy 13)
● Turner (45, X)
- Structural
● AD
- Achondroplasia
- Ehlers-danlos syndrome
- Familial hypercholesterolemia
- Huntington disease
- Marfan syndrome
- Myotonic dystrophy
- Neurofibromatosis
- Noonan syndrome
- Osteogenesis imperfecta
- Otosclerosis
- Polyposis coli
- Tuberous sclerosis
● AR
- Congenital adrenal hyperplasia
- Cystic fibrosis
- Friedreich ataxia
- Galactosemia
- Glycogen storage disease
- Hurler syndrome
- Oculocutaneous albinism
- Phenylketonuria
- Sickle cell disease
- Tay-sachs disease
- Th
- Werdnig-hoffman disease (SMA 1)
● X-linked recessive inheritance
- Color blindness (red-green)
- Duchenne & becker muscular dystrophies
- Fragile x-syndrome
- G6PD
- Hemophilia A & B
- Hunter syndrome (mucopolysaccharidosis II)
● Unusual: NON-MANDELIANS’ INHERITANCE
- Trinucleotide repeat expansion- fragile X syndrome
 - Del ( imprinting): father= prader willi
- Mother: angelman syndrome
- Uniparental disomy- 2 maternal chr 15- PWS, 2 paternal chr angelman

● multifactorial
- Congenital
● NTD (anencephaly, spina bifida)
● Congenital heart disease
● Cleft lip & palate
● Pyloric stenosis
● Developmental dysplasia of the hip
● Talipes equinovarus
● hypospadias
- childhood
● Atopy
● Epilepsy
● T1dm

Infection
Life threatening
● Sepsis
● Meningitis- bacterial
● encephalitis/ encephalopathy (hsv)
● TSS
● Necrotizing fasciitis/ cellulitis
Bacterial
● Meningococcal
● Pneumococcal (hyposplenism - sca, nephrotic syndrome at high risk of getting infection)
● Hib
● Staph & group A strep
- Impetigo
- Boils
- Periorbital cellulitis
- Staphylococcal scalded skin syndrome
Viral
● Hsv
● Vzv
● Shingles
● EBV
● Cmv
● Hhv6
● Hhv7
 ● Parvovirus b19
● Enterovirus
- HFMD
- Herpangina
- meningitis/ encephalitis
- Pleurodynia (bornholm disease)
- Myocarditis & pericarditis
- Enteroviral neonatal sepsis syndrome
● Measles
● Mumps
● Rubella
Prolonged fever
● Kawasaki disease

TB
TROPICs
● Hiv
● Lyme
●
* Sle- not so common at 3 yo, usually 9-11 yo
Neonate
● HIE
● Acute bilirubin encephalopathy
● Chronic bilirubin encephalopathy
● Birth injuries
- Soft-tissue injuries
- Nerve palsies-erb, facial nerve
- Fractures- clavicle, humerus/ femur
● Preterm
- RESP
● RDS
● Pneumothorax
● Apnoea & bradycardia
- Hypotension
- PDA
- Temp control
- Metabolic
● Hypoglycemia
● Hypocalcemia
● Electrolyte imbalance
● Osteopenia of prematurity
- Infection
- Jaundice
- Intraventricular hemorrhage/ periventricular leukomalacia
- Necrotizing enterocolitis
- Retinopathy of prematurity
- Anemia of prematurity
- Iatrogenic
- Bronchopulmonary dysplasia
- Inguinal hernias
● Resp distress
- TTN
- MAS
- Pneumonia
- Pneumothorax
- Milk aspiration
- Persistent pulmonary hypertension of the newborn
- Diaphragmatic hernia
● Early onset
- Listeria monocytogenes
- gbs
● Late onset infection > 48h
- Staph epidermidis
- E.coli
- Pseudomonas
 - Klebsiella
- serratia
● specific
● Hypoglycemia
● Seizures
● Perinatal stroke
● Craniofacial
- Cleft lip & palate
- Pierr robin sequence
● Gi
- Esophageal atresia
- Small bowel obstruction
- Large bowel obstruction
- exomphalos/ gastroschisis

DOUBLE THE WEIGHT AT 6 MONTHS

Hypospadias is a birth defect in boys in which the opening of the urethra is not
located at the tip of the penis