1. Large, patchy areas of subcortical and deep white matter hyperintensity in the bilateral corona radiata suggestive of ADEM (Acute Disseminated Encephalomyelitis).
2. Multiple sclerosis (MS).
3. Differentiating features between ADEM and MS:

Feature	ADEM	MS
Age	<10 years	>10 years
Stupor / coma	+	-
Fever / vomiting	+	-
Family history	No	20%
Sensory complaints	+	-
Optic neuritis	Bilateral	Unilateral
Manifestations	Polysymptomatic	Monosymptomatic
MRI imaging	Widespread lesions: Basal ganglia, thalamus, cortical gray-white junction	Isolated lesions: periventricular white matter, corpus callosum
CSF	Pleocytosis (lymphocytosis)	Oligoclonal bands
Response to steroids	+	+
Follow-up	No new lesions	New lesions

(+ = more likely to be present, - = less likely to be present)

4. Lymphocytic pleocytosis.
5. Intravenous methylprednisolone 30 mg/kg/day for 3–5 days followed by oral prednisolone 1 mg/kg/day for 10 days.
6. 70 percent will recover without any residual disability in 6 months.

Note: Oligoclonal bands are also found in: Multiple sclerosis, Devic's disease, Systemic lupus erythematosus, Neurosarcoidosis, SSPE, Subarachnoid hemorrhage, Syphilis, CNS lymphoma.

1. Multifocal cerebral and cerebellar encephalomalacia.
2. Sequel of ischemic injury in the perinatal period (Hypoxic Ischemic Encephalopathy).

1. TB Spine (Pott's spine / Tubercular spondylodiscitis).
2. Thoracolumbar junction—area of maximum stress and valveless venous drainage (Batson venous plexus).

1. Occipital encephalocele.
2. 26 days post-conception (closure of cranial neuropore).
3. Folic acid: 0.4 mg/day (4 mg/day for high-risk), started periconceptionally (before pregnancy) and continued till 12 weeks of gestation.
4. Maternal folic acid deficiency, maternal diabetes, periconceptional hyperthermia, valproate/anticonvulsant exposure.

1. Ataxia-telangiectasia (Louis-Bar syndrome).
2. Autosomal recessive (ATM gene mutation on chr 11q22.3).
3. Important components:
   a. Cerebellar ataxia
   b. Oculocutaneous telangiectasia
   c. Immunodeficiency
   d. Sinopulmonary infections
   e. Lymphoreticular malignancies
4. Selective absence / deficiency of IgA (and IgE / IgG subclasses).

1. Tuberous Sclerosis Complex (TSC / Bourneville disease).
2. Image A: Adenoma sebaceum (facial angiofibromas). Image B: Ash-leaf macule (hypomelanotic macule).
3. Autosomal dominant; TSC1 (chromosome 9q34, hamartin) and TSC2 (chromosome 16p13, tuberin).
4. Characteristic brain lesions include cortical tubers in convolutions of cerebral hemispheres, subependymal nodules, and subependymal giant cell astrocytomas (SEGA) typically in subependymal region.

1. Café-au-lait macule (CALM).
2. Six or more CAL macules larger than 5 mm in greatest diameter in prepubertal individuals, and larger than 15 mm in greatest diameter in postpubertal individuals.
3. Incontinentia pigmenti (Bloch-Sulzberger syndrome).
4. Stages:
   • Stage 1: Vesicular stage
   • Stage 2: Verrucous stage
   • Stage 3: Hyperpigmented stage
   • Stage 4: Hypopigmented / atrophic stage

1. Image A: Hypermobility of finger joints (arachnodactyly). Image B: Positive thumb sign (Steinberg sign).
2. Marfan syndrome (FBN1 gene mutation).
3. Autosomal dominant.
4. Ectopia lentis (superior and temporal subluxation of the lens).

1. Sturge-Weber syndrome (Encephalotrigeminal angiomatosis).
2. Sporadic (somatic activating mutation in GNAQ gene).
3. "Tram-track" sign (gyriform cortical calcification).
4. Buphthalmos / Glaucoma / Choroidal hemangioma.

Classic triad of West syndrome:

1. Epileptic spasms (infantile spasms)
2. Hypsarrhythmia on EEG
3. Developmental arrest or regression

1. Occult spinal dysraphism (Spina bifida occulta / Lipomyelomeningocele).
2. Risk of recurrence:
   • One affected child: 3–4%
   • Two affected children: 10%
3. Folic acid 4 mg/day (4000 µg/day) started periconceptionally (before pregnancy) and continued till 12 weeks of pregnancy. (400 µg/day in low-risk).
4. Bladder incontinence management:
   • Clean intermittent catheterization (CIC)
   • Anticholinergics (e.g., Oxybutynin)
   • Artificial urinary sphincter
   • Surgical urinary diversion
   • Augmentation cystoplasty

• a. Deafferented pupil $\to$ Marcus Gunn pupil (Afferent pupillary defect)
• b. Cerebellum $\to$ Nystagmus
• c. Ipsilateral cortex $\to$ Tonic deviation of the eye(s)
• d. Midbrain tectum $\to$ Midposition pupils
• e. Pons $\to$ Pinpoint pupils
• f. Cribriform plate of ethmoid $\to$ Leakage of CSF from nose (CSF rhinorrhea)

1. Decremental response to repetitive nerve stimulation (RNS).
2. Enlarged thymus / Thymoma / Thymic hyperplasia.
3. Edrophonium (Tensilon) test / Neostigmine test / Ice pack test.
4. Aminoglycosides (gentamicin, amikacin), fluoroquinolones, macrolides, polymyxins.
5. Pyridostigmine / Neostigmine (oral: 0.4 mg/kg PO 4–6 hourly; parenteral: 0.04 mg/kg IM 4–6 hourly), corticosteroids, IVIg, plasma exchange.

1. Tubercular meningitis (TBM), fungal (cryptococcal) meningitis, partially treated bacterial meningitis.
2. Mannitol, glycerol, hypertonic saline, acetazolamide.
3. Sixth cranial nerve (Abducens nerve).

1 $\to$ a (Transient tic disorder of childhood)
2 $\to$ b (Tourette syndrome)
3 $\to$ c (Cerebral palsy)
4 $\to$ e (McCune-Albright syndrome)
5 $\to$ d (Tuberous sclerosis)

1. Guillain-Barré syndrome (GBS / AIDP).
2. Investigations:
   • CSF analysis: Albumino-cytological dissociation (elevated protein with normal cell count)
   • Nerve Conduction Velocity (NCV): demyelinating pattern, prolonged F-latencies
   • Electromyography (EMG)
3. Vital capacity (VC). Normal VC $\approx 200\text{ mL}\times \text{age in years}$. If VC falls below $25\mathrm{\%}$ of normal, endotracheal intubation is indicated.
4. IVIg ($2\text{ g/kg}$ total over 2–5 days), Plasmapheresis (plasma exchange), supportive/ventilatory care.
5. Palpable urinary bladder distension due to autonomic dysfunction (urinary retention). Manage with urinary catheterization (Foley catheter).

1. Indications for CT skull / neurosurgical opinion:
   • Deteriorating level of consciousness / GCS < 15
   • Focal neurological signs
   • Depressed or compound skull fracture / signs of basal skull fracture
   • Post-traumatic seizures
   • CSF leak (rhinorrhea/otorrhea) or persistent vomiting
2. Non-surgical measures to reduce raised ICT:
   • Nursing in 30° head-up position in midline
   • Osmotic diuretics (Mannitol 0.5–1 g/kg, 3% hypertonic saline)
   • Controlled hyperventilation ($P_{a}C{O}_2$ 30–35 mmHg)
   • Sedation and analgesia
3. Discharge advice (warning signs to return immediately):
   • Persistent vomiting
   • Drowsiness / altered sensorium
   • Blurred / double vision
   • Seizures or limb weakness

1. Space-occupying lesion (SOL) in the posterior cranial fossa / 4th ventricle with obstructive hydrocephalus; probable diagnosis is Medulloblastoma.
2. Multimodal therapy: Surgical resection, craniospinal radiotherapy, chemotherapy, and CSF diversion (VP shunt/ETV) if indicated.

1. Congenital toxoplasmosis.
2. Sabin triad:
   • Chorioretinitis
   • Intracranial calcifications
   • Hydrocephalus
3. Treatment (for 1 year):
   • Pyrimethamine (2 mg/kg/day for 2 days, then 1 mg/kg/day for 2–6 months, then Mon/Wed/Fri)
   • Sulfadiazine (100 mg/kg/day in 2 divided doses)
   • Leucovorin / Folinic acid (5–10 mg 3 times weekly)

1. Duchenne muscular dystrophy (DMD).
2. X-linked recessive.
3. If the fetus is male, the risk of being affected is 50% if mother is a carrier (overall risk $\approx 33\mathrm{\%}$ if brother is an isolated case); female fetuses will not be clinically affected (0%), but have a 50% carrier risk.
4. Chorionic villus sampling (CVS) at 10–12 weeks of gestation or amniocentesis at 15–18 weeks for fetal DNA analysis (MLPA for dystrophin gene).

1. High-density, biconvex (lentiform) extra-axial collection with mass effect.
2. Extradural hematoma (Epidural hematoma, EDH).
3. Temporoparietal region; Middle meningeal artery (MMA).
4. Subdural hematoma (SDH):
   • EDH: Biconvex (lenticular), limited by suture lines, arterial bleed.
   • SDH: Crescent-shaped, crosses suture lines, venous bleed (bridging veins).

5. Immediate airway protection / intubation due to falling GCS, emergency neurosurgical craniotomy and hematoma evacuation.

1. Causes of xanthochromia:
   • Subarachnoid hemorrhage
   • Hyperbilirubinemia (jaundice)
   • Markedly elevated CSF protein (>150–400 mg/dL, Froin's syndrome)
   • Carotenemia / traumatic tap with delayed centrifugation
2. Causes of CSF protein > 400 mg/dL:
   • TB meningitis
   • Guillain-Barré syndrome (GBS)
   • Spinal block / spinal cord tumor (Froin's syndrome)
   • Pyogenic meningitis
   • Degenerative CNS disorders / vasculitis
3. Causes of high CSF glucose:
   • Systemic hyperglycemia / post-IV dextrose infusion
   • Traumatic lumbar puncture with significant blood contamination
4. Cloudy CSF implies:
   • Elevated WBC count (pleocytosis, typically $>200\text{ cells/µL}$ seen in pyogenic meningitis)
   • High RBC count or dense bacterial/fungal load

Image A:

1. Contrast CT brain at the level of the lateral ventricles (showing empty delta sign / filling defect in superior sagittal sinus).
2. Cerebral venous sinus thrombosis (CVST).
3. Causes: Severe dehydration, sepsis, cyanotic congenital heart disease, nephrotic syndrome, protein C/S/antithrombin III deficiency, SLE/vasculitis.

Image B:

1. Axial T2/FLAIR MRI brain at the level of internal capsule and basal ganglia.
2. X-linked Adrenoleukodystrophy (ALD) (confluent symmetric parieto-occipital white matter demyelination).
3. Other peroxisomal disorders: Zellweger syndrome, Refsum disease, Neonatal adrenoleukodystrophy.

1. Skin manifestations:
   • Adenoma sebaceum (facial angiofibromas)
   • Shagreen patch (connective tissue nevus)
   • Periungual / subungual fibroma (Koenen's tumor)
2. Tuberous Sclerosis Complex (TSC).
3. Other skin manifestations:
   • Ash-leaf macules (hypomelanotic macules)
   • Confetti skin lesions
   • Forehead fibrous plaques
   • Poliosis (tuft of white hair on scalp/eyelids)
   • Café-au-lait spots

1. MRA / Cerebral Angiography: Shows stenosis/narrowing of distal internal carotid artery and proximal anterior/middle cerebral arteries with extensive basal collateral vessel formation ("puff of smoke").
2. Moya-moya disease.
3. Associated disorders: Down syndrome, Neurofibromatosis type 1 (NF-1), Sickle cell disease, Turner syndrome, previous cranial irradiation.
4. Surgical revascularization: Direct bypass (STA-MCA bypass) or indirect bypass (EDAS / EMS).
5. Brainstem syndromes: Weber syndrome, Benedikt syndrome, Millard-Gubler syndrome, Foville syndrome.

1. Clinical sign: Setting sun sign (downward deviation of eyes). Neuroimaging sign: Ventriculomegaly / dilated ventricles (Hydrocephalus).
2. Motor examination findings:
   • Increased tone / spasticity (lower limbs > upper limbs)
   • Hyperreflexia / brisk deep tendon reflexes
   • Bilateral extensor plantar responses (Babinski sign)
   • Scissoring of lower limbs
3. Treatment options:
   • Ventriculoperitoneal (VP) shunt
   • Endoscopic third ventriculostomy (ETV)
   • Ventriculoatrial (VA) shunt

1. Differential diagnosis:
   • Acute transverse myelitis (ATM)
   • Spinal cord compression / SOL in spine (tubercular Pott's spine, epidural abscess/hematoma)
   • Neuromyelitis optica spectrum disorder (NMOSD)
   • Guillain-Barré syndrome (GBS)
2. Investigation of choice: MRI spine with contrast (and MRI brain).
3. Treatment: High-dose IV Methylprednisolone pulse therapy (30 mg/kg/day for 3–5 days) followed by oral prednisolone taper; IVIg or plasmapheresis in non-responders; supportive bladder catheterization.
4. Causative factors: Post-infectious / para-infectious (viral/mycoplasma), post-vaccinal, systemic autoimmune disease (SLE), Lyme disease.

1. Definition: Occipitofrontal head circumference (OFC) $<-2\text{ SD}$ (or $<-3\text{ SD}$ for severe microcephaly) below the mean for age and sex.
2. Causes of primary microcephaly:
   • Familial / genetic (microcephalia vera, autosomal recessive primary microcephaly)
   • Chromosomal aneuploidies (Down syndrome, Edwards syndrome, Cri-du-chat syndrome)
   • Neural tube defects / Lissencephaly / Holoprosencephaly
3. Investigations:
   • MRI / CT brain
   • TORCH serology
   • Genetic testing: Karyotype / Chromosomal microarray (CMA)
   • Metabolic workup: Serum and urine amino acid profile, urinary organic acids

1. Simple febrile seizure (recurrent).
2. Risk of future epilepsy: $\sim 1-2\mathrm{\%}$ after simple febrile seizure (compared to $\sim 0.5-1\mathrm{\%}$ in general population; up to $5-10\mathrm{\%}$ in complex febrile seizures).
3. Major risk factors for recurrence:
   • Age $<12-18$ months at onset
   • Duration of fever $<24$ hours before seizure
   • Lower degree of fever ($38-{39}^{\circ }\text{C}$)
   • Family history of febrile seizures
4. Lumbar puncture: Recommended in infants $<12$ months (or 12–18 months if unimmunized for Hib/Pneumococcus or after prior antibiotics) and whenever there are meningeal signs or prolonged drowsiness.
5. Indications for neuroimaging: Complex febrile seizures (focal, prolonged $>15$ min, multiple within 24 hours), focal neurological deficit, abnormally large/small head, persistent altered consciousness.
6. Intermittent oral diazepam / clobazam / clonazepam given at onset of fever for 48 hours in children with recurrent febrile seizures or high parental anxiety; routine daily prophylactic AEDs are not recommended.

• 1. Carbamazepine $\to$ b. Stevens-Johnson syndrome / c. Weight gain
• 2. Lamotrigine $\to$ b. Stevens-Johnson syndrome
• 3. Topiramate $\to$ f. Glaucoma / Oligohidrosis
• 4. Valproic acid $\to$ e. Hyperammonemia / c. Weight gain
• 5. Vigabatrin $\to$ a. Irreversible visual field defect
• 6. Phenytoin $\to$ d. Hirsutism / Gingival hyperplasia

(Match: 1-c, 2-b, 3-f, 4-e, 5-a, 6-d)

1. Ketogenic diet.
2. Indications: Refractory/drug-resistant epilepsy, GLUT-1 deficiency syndrome, Pyruvate dehydrogenase (PDH) deficiency, Infantile spasms, Dravet syndrome, Lennox-Gastaut syndrome, Tuberous sclerosis.
3. Contraindications: Primary carnitine deficiency, carnitine palmitoyl transferase (CPT I/II) deficiency, $\beta$-oxidation defects, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, pyruvate carboxylase deficiency, porphyria.
4. Formulation: 3:1 or 4:1 ratio of fat to combined carbohydrates and protein by weight.

1. Friedreich ataxia; Autosomal recessive (GAA trinucleotide repeat expansion on FXN gene).
2. Spinocerebellar tracts, dorsal/posterior columns, corticospinal tracts, dorsal root ganglia, dentate nucleus of cerebellum.
3. Brain tumor, anticonvulsant toxicity (phenytoin), basilar migraine, multiple sclerosis, ADEM, episodic ataxia, inborn errors of metabolism.
4. Hypertrophic cardiomyopathy / Congestive heart failure / Arrhythmias.

1. Sydenham chorea (Rheumatic chorea).
2. Hallmark features: Chorea (involuntary purposeless movements), hypotonia, emotional lability, motor impersistence ("darting tongue").
3. 2D Echocardiography (to evaluate carditis), throat swab / ASO titer / Anti-DNase B, ECG, inflammatory markers (ESR, CRP).
4. Treatment:
   • Secondary prophylaxis: Long-term penicillin (Benzathine penicillin G every 3–4 weeks)
   • Symptomatic: Haloperidol, valproate, or carbamazepine
   • Anti-inflammatory: Oral prednisolone (2 mg/kg/day for 2–4 weeks) or IVIg in refractory cases.

1. Rett syndrome (MECP2 mutation, X-linked dominant).
2. Stereotypic repetitive hand-wringing / hand-washing movements, loss of purposeful hand skills, acquired microcephaly.
3. 6 to 18 months of age (usually 9–12 months).
4. Deceleration of head growth (acquired microcephaly), hypotonia, autistic features, loss of social engagement, gait ataxia/apraxia.
5. Motor milestones (loss of hand skills, abnormal gait) and expressive language/speech.

Milestone	Age of attaining (in months)
Follows moving object 180°	2–3 months
Sustains social contact, listens to music	3 months
Polysyllabic vowel sounds	7 months
Creeps or crawls	10 months
Plays simple ball game	12 months
Makes tower of 4 cubes	18 months
Puts 3 words together	24 months
Hops on one foot	48 months (4 years)
Names 4 colors	60 months (5 years)
Dresses and undresses	60 months (5 years)

1. Congenital CMV (Cytomegalovirus) infection.
2. Tests to confirm diagnosis:
   • Urine / saliva CMV PCR (within first 2–3 weeks of life)
   • Maternal and infant CMV IgM and IgG serology
   • CSF PCR for CMV
   • Ophthalmological and audiological (BERA) evaluation
3. USG brain findings: Periventricular echodensities / calcifications, ventriculomegaly, subependymal cysts.
4. Sequelae: Sensorineural hearing loss (SNHL), microcephaly, developmental delay, cerebral palsy, visual impairment (chorioretinitis / optic atrophy).

1. Image A: Fused / sclerosed sagittal suture. Image B: Dolichocephalic / scaphocephalic head shape.
2. Sagittal craniosynostosis (Scaphocephaly).
3. Management:
   • Multidisciplinary assessment by craniofacial surgical and neurosurgical team
   • 3D CT scan of skull to evaluate suture fusion and intracranial volume
   • Surgical cranial vault remodeling or strip craniectomy (ideally between 3 to 9 months of age).