Neurology Flashcards
1
Q
- A 4-year-old girl presents with truncal ataxia, nystagmus, and vomiting. MRI shows cerebellar mass. Likely tumor?
A
Diagnosis: Pilocytic Astrocytoma
- Most common cerebellar tumor in children
- Good prognosis
- Cyst with mural nodule on imaging
2
Q
- A 2-year-old boy presents with myoclonus, ataxia, and opsoclonus. A neuroblastoma is found on imaging. What is the syndrome called?
A
Syndrome: Opsoclonus-Myoclonus-Ataxia Syndrome
- Paraneoplastic syndrome associated with neuroblastoma
- Autoimmune origin
3
Q
- A child presents with frequent falls, intention tremor, dysarthria, and ataxia. There is a family history of similar illness. MRI shows cerebellar atrophy. What is the likely diagnosis?
A
Diagnosis: Spinocerebellar Ataxia (SCA)
- AD neurodegenerative disorder
- Features: Ataxia, tremor, dysarthria
- Diagnosis: Genetic testing
4
Q
- A 6-year-old presents with new-onset ataxia and dysmetria following a viral illness. MRI is normal. What is the most likely diagnosis?
A
Diagnosis: Acute Cerebellar Ataxia
- Common post-viral condition in children
- Self-limited, supportive management
- MRI usually normal
5
Q
- A 6-year-old boy presents with gait instability and slurred speech. There is nystagmus, areflexia, and bilateral Babinski sign. MRI shows cerebellar atrophy. What is the likely diagnosis?
A
Diagnosis: Friedreich Ataxia
- AR inheritance, GAA repeat expansion
- Ataxia, dysarthria, areflexia, cardiomyopathy
- Diagnosis: Genetic testing
6
Q
- A child presents with sudden onset hemiparesis. MRI shows unilateral infarction in basal ganglia. There is recent history of minor trauma. What is the likely cause?
A
Diagnosis: Lenticulostriate Vasculopathy in Sickle Cell Disease
- Post-minor trauma stroke
- MRI: Basal ganglia infarct
- Consider screening and chronic transfusion
7
Q
- A child presents with transient ischemic attacks and progressive strokes. Angiography shows collateral ‘puff of smoke’ vessels. What is the diagnosis?
A
Diagnosis: Moya-Moya Disease
- Progressive occlusion of cerebral arteries
- Puff of smoke collaterals on angiography
- Common in Asian populations
8
Q
- A 6-year-old boy with a history of NF1 presents with stroke symptoms. What vascular abnormality is most likely?
A
Vascular abnormality: Moya-Moya Syndrome
- Can be associated with NF1
- Causes progressive ischemic strokes
9
Q
- A child presents with vertigo, nystagmus, and vomiting. MRI shows infarction in the cerebellar territory. Which artery is likely involved?
A
Artery: Posterior Inferior Cerebellar Artery (PICA)
- PICA stroke causes vertigo, ataxia, nystagmus, vomiting
10
Q
- A 3-year-old boy presents with right-sided hemiplegia after a minor fall. MRI shows left MCA infarct. What hematological condition should be considered?
A
Hematologic condition: Sickle Cell Disease
- Vaso-occlusive strokes common in children
- Management: Chronic transfusion, stroke prevention
11
Q
- A 6-year-old child with sudden onset of vision loss, pain on eye movement, and afferent pupillary defect. MRI shows demyelination in the optic nerve. What is the diagnosis?
A
Diagnosis: Optic Neuritis
- Painful vision loss, RAPD
- MRI: Demyelination
- Can be initial presentation of MS or post-viral
12
Q
- A child presents with horizontal gaze palsy, difficulty abducting one eye, and nystagmus in the other. What syndrome is this?
A
Diagnosis: Internuclear Ophthalmoplegia (INO)
- Disorder of MLF (medial longitudinal fasciculus)
- Horizontal gaze palsy, nystagmus
- Can be due to MS in children
13
Q
- A 6-month-old infant presents with increasing head circumference, bulging fontanelle, and sunset eye sign. What is the diagnosis and likely complication?
A
Diagnosis: Hydrocephalus
- Symptoms: Bulging fontanelle, sunset sign
- Complication: Raised ICP, brain herniation
- Confirm with neuroimaging (USG, CT)
14
Q
- A child with parkinsonism, hepatosplenomegaly, and vertical gaze palsy. Bone marrow shows foam cells. What is the diagnosis?
A
Diagnosis: Niemann-Pick Disease Type C
- Features: Hepatosplenomegaly, gaze palsy, neuroregression
- Foam cells in marrow
15
Q
- A child with optic glioma and multiple café-au-lait spots. Which gene is mutated?
A
Gene: NF1 gene (Neurofibromin)
- Chromosome 17
- Associated with Neurofibromatosis type 1
16
Q
- A 5-year-old child presents with facial asymmetry and inability to close the right eye. No other neurologic deficits. What is the most likely diagnosis?
A
Diagnosis: Bell’s Palsy
- Idiopathic facial nerve (CN VII) palsy
- Unilateral LMN type facial weakness
- Treatment: Supportive, sometimes steroids
17
Q
- A child presents with multiple café-au-lait spots, Lisch nodules, and optic glioma. What is the diagnosis?
A
Diagnosis: Neurofibromatosis type 1 (NF1)
- AD condition
- Café-au-lait spots, Lisch nodules, optic glioma
- NF1 gene on chromosome 17
18
Q
- A child with hepatosplenomegaly, vertical supranuclear gaze palsy, and cherry red spot. What is the diagnosis?
A
Diagnosis: Niemann-Pick Disease Type A
- Features: HSM, cherry red spot, neurodegeneration
- Sphingomyelinase deficiency
19
Q
- A 10-year-old presents with severe, throbbing headache, photophobia, nausea, and family history of similar episodes. What is the diagnosis?
A
Diagnosis: Migraine without aura
- Features: Throbbing headache, nausea, photophobia
- Common in older children/adolescents
- Treatment: NSAIDs, triptans (if >12y)
20
Q
- A child has persistent headache, vomiting, and papilledema. MRI is normal. What is the next best test?
A
Next test: MRV (Magnetic Resonance Venography)
- To rule out cerebral venous sinus thrombosis
- Especially in pseudotumor cerebri
21
Q
- A 10-year-old girl presents with headaches, visual disturbances, and papilledema. CT scan is normal. What is the next best investigation?
A
Next step: MRI brain with MRV (to assess for Idiopathic Intracranial Hypertension)
- CT can be normal
- Look for venous sinus thrombosis
22
Q
- A child with headaches and visual symptoms. MRI shows cerebellar tonsillar herniation below the foramen magnum. What is the diagnosis?
A
Diagnosis: Chiari Malformation Type I
- Cerebellar tonsil herniation >5 mm
- May present with headaches, syncope, scoliosis
23
Q
- A child presents with headache and cranial nerve palsies. MRI shows basal meningeal enhancement. What is the most likely diagnosis?
A
Diagnosis: Tuberculous Meningitis
- Basal meningeal enhancement, cranial neuropathies
- Confirm with CSF AFB or PCR
24
Q
- A 12-year-old boy presents with new-onset right-sided weakness and aphasia after a headache. MRI shows diffusion restriction in the left MCA territory. He has a history of SCD. What is the most likely diagnosis?
A
Diagnosis: Ischemic stroke secondary to sickle cell disease
- Common in children with SCD
- Presents with acute neurologic deficits
- Management: Exchange transfusion, prevent recurrence with chronic transfusions
25
109. A child with headache, photophobia, neck stiffness. CSF shows high neutrophils, low glucose, high protein. What is the most likely cause?
Diagnosis: Bacterial Meningitis
- CSF: Neutrophilic pleocytosis, low glucose, high protein
- Start empiric antibiotics immediately
26
177. Which leukodystrophy presents with macrocephaly, spasticity, and elevated NAA on MRS?
Leukodystrophy: Canavan Disease
- Elevated NAA on spectroscopy
- Macrocephaly, spongy degeneration
27
107. What is the classic MRI finding in metachromatic leukodystrophy?
MRI: Periventricular white matter demyelination with tigroid appearance
- Involves central and subcortical U-fibers
28
26. A child presents with decreased vision, optic atrophy, spasticity, and developmental regression. MRI shows periventricular leukodystrophy. What is the likely diagnosis?
Diagnosis: Krabbe Disease
- Leukodystrophy due to galactocerebrosidase deficiency
- Vision loss, optic atrophy, spasticity
- AR inheritance
29
40. A child has a neurodegenerative disease with adrenal insufficiency and behavioral decline. MRI shows white matter changes. What is the diagnosis?
Diagnosis: Adrenoleukodystrophy (ALD)
- X-linked
- Behavioral issues, adrenal insufficiency
- MRI: White matter changes
- Diagnosis: VLCFA levels
30
116. What metabolic disorder presents in neonates with lethargy, vomiting, and hyperammonemia without acidosis?
Diagnosis: Ornithine Transcarbamylase Deficiency (OTC)
- Urea cycle defect
- Hyperammonemia without acidosis
- X-linked
31
125. What is the most common tumor associated with tuberous sclerosis complex?
Most common tumor: Subependymal Giant Cell Astrocytoma (SEGA)
- May obstruct foramen of Monro
- TSC1/TSC2 mutation
32
148. What is the typical MRI appearance of tuberous sclerosis?
MRI appearance: Cortical tubers, subependymal nodules, SEGA
- Often calcified
- Pathognomonic for tuberous sclerosis
33
48. A 9-month-old with regression of milestones, optic atrophy, and MRI showing demyelination. Urine sulfatide is positive. What is the diagnosis?
Diagnosis: Metachromatic Leukodystrophy (MLD)
- AR disorder
- Arylsulfatase A deficiency
- Features: Regression, optic atrophy, positive urine sulfatides
34
49. A 3-year-old child presents with ataxia, behavioral changes, and MRI shows bilateral thalamic hyperintensities. What is the likely diagnosis?
Diagnosis: Acute Necrotizing Encephalopathy
- Typically viral trigger (e.g., influenza)
- MRI: Bilateral thalamic lesions
- Poor prognosis
35
59. A child presents with vertical gaze palsy, behavioral changes, and Parinaud’s syndrome. Pineal mass seen on imaging. What is the diagnosis?
Diagnosis: Pineal Germinoma
- Parinaud’s syndrome: Vertical gaze palsy, convergence-retraction nystagmus
- Common in adolescents
36
147. A child with neuroregression, optic atrophy, and demyelination. Arylsulfatase A is low. What is the diagnosis?
Diagnosis: Metachromatic Leukodystrophy (MLD)
- AR disorder, demyelination
- Arylsulfatase A deficiency
- Urine sulfatides positive
37
56. A 3-year-old child presents with choreoathetosis, dystonia, and self-injurious behavior. Ammonia levels are normal. What is the most likely diagnosis?
Diagnosis: Lesch-Nyhan Syndrome
- X-linked recessive
- HGPRT deficiency
- Features: Dystonia, chorea, self-mutilation
38
83. A 3-year-old child presents with regression, startle response to sound, and cherry red spot on fundoscopy. What is the diagnosis?
Diagnosis: Tay-Sachs Disease
- AR lysosomal storage disorder
- Hexosaminidase A deficiency
- Cherry red spot, neurodegeneration, exaggerated startle
39
84. A 5-year-old with behavioral changes, rapid eye movements, and opsoclonus. Abdominal mass is detected. What is the next step?
Next step: Evaluate for Neuroblastoma
- Likely Opsoclonus-Myoclonus-Ataxia Syndrome
- Investigations: Abdominal USG, MRI, urinary catecholamines
40
162. A child with copper accumulation, tremors, dysarthria, and behavioral changes. What eye finding is diagnostic?
Eye finding: Kayser-Fleischer rings
- Seen in Wilson Disease
- Best seen with slit lamp exam
- Indicates CNS involvement
41
31. A 3-year-old child presents with language regression, impaired social interaction, and repetitive behaviors. What is the most likely diagnosis?
Diagnosis: Autism Spectrum Disorder (ASD)
- Regression in language, social skills
- Repetitive behaviors
- Diagnosis: Clinical, may need ADOS or DSM-5 criteria
42
128. What syndrome includes developmental regression, autistic behavior, and is seen almost exclusively in girls?
Diagnosis: Rett Syndrome
- X-linked dominant, MECP2 mutation
- Regression, hand-wringing, autistic features
43
25. A 7-year-old boy presents with cognitive decline, behavioral changes, and myoclonus. History of measles at age 2. What is the most likely diagnosis?
Diagnosis: Subacute Sclerosing Panencephalitis (SSPE)
- Complication of measles
- EEG: Periodic complexes
- Diagnosis: Anti-measles antibodies in CSF
44
13. A child with history of self-injurious behavior, developmental delay, and orange sand-like crystals in the diaper. What is the most likely diagnosis?
Diagnosis: Lesch-Nyhan Syndrome
- Self-mutilation, hyperuricemia (orange crystals)
- X-linked recessive, HGPRT deficiency
- Diagnosis: Uric acid, genetic testing
45
136. A boy with aggressive behavior, hyperactivity, and developmental delay has increased urinary homovanillic acid (HVA). What is the diagnosis?
Diagnosis: Lesch-Nyhan Syndrome
- Elevated HVA and uric acid
- X-linked recessive, HGPRT deficiency
- Self-injurious behavior
46
111. What is the most common cause of ataxia in previously healthy children following viral infection?
Diagnosis: Acute Cerebellar Ataxia
- Most common cause in healthy children
- Post-viral, self-limiting
47
23. A child with ataxia, oculomotor apraxia, recurrent infections, and elevated alpha-fetoprotein. What is the diagnosis?
Diagnosis: Ataxia-Telangiectasia
- AR disorder with cerebellar ataxia, oculomotor apraxia, infections, telangiectasia
- High AFP, ATM gene mutation
48
142. A newborn with hypotonia, poor feeding, and joint contractures. What condition should be suspected?
Suspected condition: Arthrogryposis Multiplex Congenita
- Congenital contractures and hypotonia
- Multiple causes including neurogenic
49
138. What condition is characterized by hypotonia, areflexia, and ascending paralysis following gastroenteritis?
Diagnosis: Guillain-Barré Syndrome
- Typically post-Campylobacter
- Albuminocytologic dissociation in CSF
- Treat with IVIG/plasmapheresis
50
62. A neonate presents with hypotonia, hepatomegaly, and cardiomegaly. Enzyme assay reveals acid alpha-glucosidase deficiency. What is the diagnosis?
Diagnosis: Pompe Disease (Infantile form)
- Acid alpha-glucosidase deficiency
- Cardiomyopathy, hepatomegaly, hypotonia
- AR inheritance
51
94. A neonate with hypotonia and severe lactic acidosis. Elevated alanine and pyruvate. What is the likely diagnosis?
Diagnosis: Pyruvate Dehydrogenase Deficiency
- Mitochondrial disorder
- Lactic acidosis, elevated pyruvate/alanine
- Supportive treatment
52
71. A neonate with lethargy, vomiting, hypotonia, and distinct maple syrup odor in urine. What amino acids are elevated in this condition?
Elevated amino acids: Leucine, Isoleucine, Valine
- Diagnosis: Maple Syrup Urine Disease (MSUD)
- Defect in branched-chain α-keto acid dehydrogenase
53
54. A neonate presents with hypotonia, feeding difficulty, and bilateral cataracts. Labs show hypoglycemia and jaundice. What is the diagnosis?
Diagnosis: Galactosemia
- AR disorder (GALT deficiency)
- Symptoms: Hypoglycemia, cataracts, jaundice
- Management: Stop galactose-containing feeds
54
90. A newborn with severe hypotonia, poor suck, weak cry, and polyhydramnios in pregnancy. What syndrome should be suspected?
Suspect: Prader-Willi Syndrome
- Neonatal hypotonia, poor suck
- Later: Hyperphagia, obesity
- Genetic: Paternal 15q11–q13 deletion
55
105. A 3-year-old presents with hypotonia and areflexia. MRI is normal. CSF shows normal glucose and protein. EMG is decreased. What is the likely diagnosis?
Diagnosis: Spinal Muscular Atrophy (SMA)
- Normal MRI and CSF
- EMG: Denervation
- Genetics: SMN1 gene mutation
- Presents with floppy infant
56
145. What feature distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy?
Feature: Age of onset and severity
- Duchenne: Early onset, severe, no dystrophin
- Becker: Later onset, milder, reduced dystrophin
57
22. A neonate with hypotonia, feeding difficulty, and inverted V-shaped upper lip. Later, develops hyperphagia and obesity. What is the most likely diagnosis?
Diagnosis: Prader-Willi Syndrome
- Neonatal hypotonia, feeding issues → later hyperphagia, obesity
- Genetic: Deletion of paternal 15q11-q13
58
108. A neonate with hypotonia, lethargy, and metabolic acidosis has elevated lactate and ragged red fibers on muscle biopsy. What is the diagnosis?
Diagnosis: Mitochondrial Encephalomyopathy (MELAS)
- Lactic acidosis, ragged red fibers
- Genetic mitochondrial disorder
- Diagnosis: Muscle biopsy + lactate
59
127. A child with hypotonia and developmental delay shows high NAA on MR spectroscopy. What is the diagnosis?
Diagnosis: Canavan Disease
- Elevated N-acetylaspartate (NAA)
- AR leukodystrophy, spongy degeneration
60
37. A child presents with hypotonia, delayed milestones, high forehead, and MRI showing lissencephaly. What is the likely diagnosis?
Diagnosis: Lissencephaly (Smooth Brain)
- Neuronal migration disorder
- Presents with severe developmental delay, hypotonia, seizures
61
17. A neonate has generalized hypotonia, frog-leg posture, and weak cry. Reflexes are decreased. What is the most likely classification?
Classification: Central hypotonia
- CNS involvement suggested by altered consciousness or seizures
- Must distinguish from peripheral causes (e.g., SMA)
62
44. A newborn has generalized hypotonia, weak cry, and respiratory difficulty. EMG shows decremental response. The mother had ptosis during pregnancy. What is the diagnosis?
Diagnosis: Neonatal Myasthenia Gravis
- Transient due to maternal anti-AChR antibodies
- Symptoms: Hypotonia, weak cry, respiratory distress
- Management: Supportive, anticholinesterases
63
5. A newborn presents with a weak cry, poor feeding, hypotonia, and tongue fasciculations. Deep tendon reflexes are absent. What is the most likely diagnosis?
Diagnosis: Spinal Muscular Atrophy type I (Werdnig-Hoffmann disease)
- Onset: Birth to 6 months
- LMN signs: Hypotonia, absent reflexes, tongue fasciculations
- Genetics: SMN1 gene deletion
64
97. A child presents with hyporeflexia, scoliosis, and hypertrophic cardiomyopathy. What is the most likely diagnosis?
Diagnosis: Friedreich Ataxia
- AR neurodegenerative disorder
- Spinocerebellar degeneration
- Cardiomyopathy, scoliosis, ataxia
65
96. A 3-year-old child presents with hypotonia, intellectual disability, high forehead, and smooth gyri on MRI. What is the diagnosis?
Diagnosis: Lissencephaly
- Smooth brain due to neuronal migration defect
- Severe hypotonia, epilepsy, ID
- MRI: Agyria/pachygyria
66
110. What EEG pattern is typical in Lennox-Gastaut Syndrome?
EEG: Slow spike-and-wave discharges (<2.5 Hz)
- Seen in Lennox-Gastaut Syndrome
- Also features tonic and atonic seizures
67
86. A 10-year-old with proximal muscle weakness, Gower sign, and elevated creatine kinase. Genetic test shows dystrophin mutation. What is the diagnosis?
Diagnosis: Duchenne Muscular Dystrophy (DMD)
- X-linked recessive
- Onset <5 years, calf pseudohypertrophy
- Absent dystrophin protein
68
85. A child with bilateral acoustic neuromas and café-au-lait spots. What is the most likely diagnosis?
Diagnosis: Neurofibromatosis type 2 (NF2)
- Bilateral acoustic neuromas (vestibular schwannomas)
- AD disorder, merlin gene mutation
69
108. A child with confusion and fever undergoes lumbar puncture. CSF shows high WBCs (lymphocytes), elevated protein, normal glucose. What is the likely diagnosis?
Diagnosis: Viral (Aseptic) Meningitis
- CSF: Lymphocytic pleocytosis, normal glucose
- Common causes: Enteroviruses, HSV-2
70
106. In a floppy infant, what CSF findings suggest spinal muscular atrophy over central causes?
CSF: Normal or low protein, normal glucose
- SMA is a lower motor neuron disease without inflammatory CSF changes
71
112. What condition is characterized by demyelination following viral illness with multifocal neurologic signs and altered mental status?
Diagnosis: Acute Disseminated Encephalomyelitis (ADEM)
- Demyelination post-viral or post-vaccine
- Multifocal deficits, altered sensorium
72
95. A child has foot drop, steppage gait, and pes cavus. Nerve conduction shows demyelination. What is the diagnosis?
Diagnosis: Charcot-Marie-Tooth Disease (CMT)
- Inherited demyelinating neuropathy
- Foot drop, pes cavus
- Diagnosis: EMG/NCS and genetic testing
73
179. What is the cause of ascending flaccid paralysis with preserved sensorium post-viral illness?
Cause: Guillain-Barré Syndrome (GBS)
- Ascending paralysis, areflexia
- Post-infectious autoimmune demyelination
74
134. What is the hallmark of neuronal ceroid lipofuscinosis on fundus examination?
Hallmark: Retinal pigmentary degeneration
- Also called 'salt and pepper' retina
- May show optic atrophy later
75
88. A 7-year-old with frequent episodes of blank staring, unresponsiveness, no aura, and no postictal confusion. What is the diagnosis?
Diagnosis: Childhood Absence Epilepsy (CAE)
- Brief episodes, 3 Hz spike-wave EEG
- No postictal confusion
- Responds to ethosuximide
76
132. A child with spasticity, developmental delay, and a 'bat-wing' appearance of lateral ventricles on MRI. What is the diagnosis?
Diagnosis: Lissencephaly
- Smooth cortex, agyria/pachygyria
- Bat-wing ventricles due to underdeveloped white matter
77
129. A child has macrocephaly, spasticity, and MRI shows subcortical cysts in the temporal lobes. What is the diagnosis?
Diagnosis: Alexander Disease
- Frontal leukodystrophy, macrocephaly
- Rosenthal fibers, GFAP mutation
78
135. A child with difficulty swallowing, tongue fasciculations, and limb wasting. EMG shows denervation. What is the most likely diagnosis?
Diagnosis: Spinal Muscular Atrophy (SMA)
- Progressive LMN disease
- SMN1 gene mutation
- Tongue fasciculations, hypotonia
79
98. A school-aged child presents with progressive difficulty walking, frequent falls, and inverted champagne bottle legs. What is the diagnosis?
Diagnosis: Charcot-Marie-Tooth Disease
- Distal weakness, inverted champagne legs
- Progressive, inherited neuropathy
80
124. What neuroimaging feature is typical of Aicardi syndrome?
Feature: Agenesis of corpus callosum with intracranial cysts and chorioretinal lacunae
- X-linked dominant, mostly in girls
81
130. What test is most helpful to confirm diagnosis of infantile spasms?
Test: EEG
- Shows hypsarrhythmia in infantile spasms
- Chaotic high-voltage slow waves and spikes
82
141. A child with acute onset flaccid paralysis, preserved sensation, and absent reflexes. What is the first investigation?
First investigation: Nerve Conduction Studies and CSF analysis
- Rule out Guillain-Barré Syndrome
- Look for albuminocytologic dissociation
83
79. A child with recurrent episodes of vertigo, tinnitus, and sensorineural hearing loss. What syndrome is suspected?
Suspected syndrome: Meniere’s Disease (rare in children)
- Features: Episodic vertigo, tinnitus, hearing loss
- Rule out other causes (vestibular migraine, infections)
84
32. A 7-year-old boy presents with sudden brief episodes of loss of muscle tone, especially with laughter. He also experiences vivid dreams. What is the diagnosis?
Diagnosis: Narcolepsy with Cataplexy
- Daytime sleepiness, cataplexy (loss of tone with emotions)
- Hypnagogic hallucinations, sleep paralysis
85
80. A 2-month-old infant presents with opisthotonus, stridor, and arching after feeds. What is the most probable diagnosis?
Diagnosis: Gastroesophageal Reflux Disease (GERD)
- Sandifer syndrome: Arching, dystonia after feeds
- Diagnosis: Clinical, pH study if needed
86
166. What is the classic triad of symptoms in Wilson Disease with neurologic presentation?
Triad: Tremor/dystonia, psychiatric disturbance, and hepatic dysfunction
- Seen in Wilson Disease
- Confirm with ceruloplasmin and 24h urinary copper
87
28. A child with rapidly progressive weakness, areflexia, cranial nerve palsies following viral illness. CSF shows albuminocytologic dissociation. What is the diagnosis?
Diagnosis: Guillain-Barré Syndrome (GBS)
- Acute flaccid paralysis, post-viral
- CSF: Albuminocytologic dissociation
- Management: IVIG or plasmapheresis
88
168. A child presents with tremor, dystonia, and parkinsonism. Serum ceruloplasmin is low. What is the most likely diagnosis?
Diagnosis: Wilson Disease
- AR disorder of copper metabolism
- Neurologic and hepatic involvement
- Screen siblings
89
170. A child with congenital spinal dysraphism develops progressive scoliosis and urinary incontinence. MRI shows a low-lying conus. What is the diagnosis?
Diagnosis: Tethered Cord Syndrome
- Low conus medullaris on MRI
- Symptoms: Weakness, incontinence, scoliosis
90
171. A child presents with sudden loss of awareness, postural tone, and brief staring. Episodes are triggered by hyperventilation. Diagnosis?
Diagnosis: Childhood Absence Epilepsy
- Brief loss of awareness, 3 Hz spike-wave on EEG
- Hyperventilation can provoke attacks
91
16. A 5-year-old boy presents with progressive muscle weakness, ptosis, and easy fatigability. Symptoms improve with rest. What test supports the diagnosis?
Test: Edrophonium (Tensilon) test or Anti-ACh receptor antibody
- Diagnosis: Myasthenia Gravis
- EMG shows decremental response
- Ice pack test may help in ptosis
92
15. A 1-year-old girl presents with hand-wringing stereotyped movements, loss of purposeful hand use, and microcephaly. What is the diagnosis?
Diagnosis: Rett Syndrome
- X-linked dominant (MECP2 mutation)
- Regression after normal early development
- Stereotypic hand-wringing movements, microcephaly
93
14. A 7-year-old boy has difficulty in rising from the floor, calf hypertrophy, and waddling gait. What investigation confirms the diagnosis?
Investigation: Genetic testing for dystrophin gene (Duchenne Muscular Dystrophy)
- Also elevated CK, EMG, and muscle biopsy findings
94
11. A 6-month-old infant presents with macrocephaly, developmental delay, and cherry red spot on fundus exam. There is no hepatosplenomegaly. What is the most likely diagnosis?
Diagnosis: Tay-Sachs disease
- Cherry red spot, macrocephaly, neurodegeneration
- No hepatosplenomegaly (unlike Niemann-Pick)
- Hexosaminidase A deficiency
95
7. A 4-year-old girl presents with progressive difficulty walking and frequent falls. Examination shows pes cavus and absent ankle reflexes. Nerve conduction study shows demyelination. What is the most likely diagnosis?
Diagnosis: Charcot-Marie-Tooth disease (CMT)
- Hereditary motor and sensory neuropathy
- Features: Pes cavus, distal muscle wasting, absent ankle reflexes
- Nerve conduction: Demyelinating pattern
96
176. What condition shows 'tram-track' cortical calcifications and leptomeningeal angiomas on imaging?
Condition: Sturge-Weber Syndrome
- Classic imaging finding: tram-track calcifications
- Associated with seizures and glaucoma
97
178. A child develops diplopia, ptosis, and descending paralysis after eating honey. Likely cause?
Cause: Infant Botulism
- Clostridium botulinum spores in honey
- Descending paralysis, hypotonia, CN palsies
98
2. A 6-month-old infant presents with sudden flexor spasms of the neck and trunk, occurring in clusters, especially on awakening. EEG shows hypsarrhythmia. What is the diagnosis?
Diagnosis: Infantile Spasms (West Syndrome)
- Triad: Infantile spasms, developmental regression, hypsarrhythmia on EEG
- Common causes: Tuberous sclerosis, perinatal insult
- Treatment: ACTH or vigabatrin (especially in tuberous sclerosis)
99
38. A 4-year-old with motor delay and 'scissoring' of lower limbs. MRI shows periventricular leukomalacia. What is the diagnosis?
Diagnosis: Spastic Cerebral Palsy (CP)
- Type: Spastic diplegia
- Scissoring gait, increased tone
- Associated with prematurity
100
41. A 6-year-old girl presents with episodes of sudden laughter without any apparent trigger. MRI shows a hypothalamic hamartoma. What is the diagnosis?
Diagnosis: Gelastic Seizures due to Hypothalamic Hamartoma
- Sudden inappropriate laughter
- May cause precocious puberty
- Diagnosis: MRI brain
101
30. A neonate with opisthotonus posture, fever, and high-pitched cry. History of unsterile home delivery. What is the diagnosis?
Diagnosis: Neonatal Tetanus
- Due to Clostridium tetani toxin
- Symptoms: Opisthotonus, trismus, poor feeding
- Prevention: Maternal immunization
102
117. What is the characteristic MRI finding in Canavan disease?
MRI: Diffuse symmetric white matter swelling
- Spongiform degeneration of cerebral white matter
- Elevated N-acetylaspartate
103
68. A school-aged child presents with progressive stiffness of both legs and delayed milestones. MRI shows thinning of the corpus callosum. What is the diagnosis?
Diagnosis: Hereditary Spastic Paraplegia (HSP)
- Genetic disorder of corticospinal tracts
- Spasticity, hyperreflexia, bladder involvement
- MRI: Corpus callosum thinning
104
67. A neonate presents with irritability, high-pitched cry, opisthotonus, and bulging fontanelle. What is the most likely diagnosis?
Diagnosis: Neonatal Meningitis
- Common organisms: Group B Strep, E. coli, Listeria
- Signs: Bulging fontanelle, irritability, seizures
105
149. A 7-year-old boy presents with foot drop and hammer toes. What is the most likely diagnosis?
Diagnosis: Charcot-Marie-Tooth Disease (CMT)
- Hereditary neuropathy
- Presents with distal weakness, foot deformities
106
73. A 6-year-old child with hearing loss, white forelock, and heterochromia of the iris. What is the most likely diagnosis?
Diagnosis: Waardenburg Syndrome
- Features: Hearing loss, white forelock, heterochromia
- AD inheritance
- Associated with PAX3 mutations
107
76. A 10-month-old with macrocephaly, subdural hematomas, and retinal hemorrhages. What is the most likely diagnosis?
Diagnosis: Non-accidental injury (Shaken baby syndrome)
- Classic triad: Subdural hematoma, retinal hemorrhage, encephalopathy
- High suspicion required
108
66. A child presents with gradual onset spastic paraparesis and bladder dysfunction. MRI spine shows longitudinally extensive lesion. What condition should be suspected?
Diagnosis: Transverse Myelitis
- Longitudinally extensive lesion in spine
- Features: Motor, sensory, autonomic symptoms
- Causes: Post-infectious, autoimmune
109
143. What is the hallmark finding in Werdnig-Hoffmann disease on EMG?
EMG: Fibrillations and denervation potentials
- Lower motor neuron pattern
- Suggests SMA Type 1 (Werdnig-Hoffmann)
110
55. A toddler presents with loss of milestones, muscle weakness, macroglossia, and hepatomegaly. What enzyme deficiency is involved?
Diagnosis: Pompe Disease (GSD type II)
- Lysosomal alpha-glucosidase deficiency
- Cardiomegaly, hepatomegaly, hypotonia
- AR inheritance
111
52. A neonate with delayed passage of meconium, abdominal distension, and family history of cystic fibrosis. What investigation confirms diagnosis?
Investigation: Sweat Chloride Test
- Confirmatory test for Cystic Fibrosis
- Elevated levels >60 mEq/L
- Genetic testing may support diagnosis
112
137. A child presents with ocular albinism, nystagmus, and bleeding tendency. Platelet storage pool deficiency is noted. What is the diagnosis?
Diagnosis: Hermansky-Pudlak Syndrome
- AR disorder
- Features: Oculocutaneous albinism, bleeding diathesis
- Platelet storage pool defect
113
46. A child presents with self-mutilation, hyperuricemia, dystonia, and intellectual disability. What enzyme deficiency is likely?
Enzyme Deficiency: HGPRT (Hypoxanthine-guanine phosphoribosyltransferase)
- Condition: Lesch-Nyhan Syndrome
- X-linked recessive
114
45. A child with developmental delay, coarse facial features, hepatosplenomegaly, and corneal clouding. What is the most likely diagnosis?
Diagnosis: Hurler Syndrome (MPS I)
- AR lysosomal storage disorder
- Features: Developmental delay, coarse facies, hepatosplenomegaly, corneal clouding
115
43. A 2-year-old child has an exaggerated startle response to noise, developmental delay, and normal MRI. What is the diagnosis?
Diagnosis: Hyperekplexia (Startle Disease)
- Exaggerated startle reflex
- Glycine receptor mutation
- Diagnosis: Clinical and genetic
116
139. A child has seizures and café-au-lait spots. What neuroimaging abnormality is associated with optic glioma?
Abnormality: Optic pathway glioma
- Seen in NF1
- Imaging: Fusiform enlargement of optic nerve
- May cause proptosis or vision loss
117
119. What condition is suggested by EEG showing centrotemporal spikes and nocturnal focal seizures in a school-aged child?
Diagnosis: Benign Rolandic Epilepsy
- EEG: Centrotemporal spikes
- Nocturnal focal seizures
- Resolves by adolescence
118
175. A child with repeated unprovoked drop attacks and EEG showing slow spike-wave discharges. Likely epilepsy syndrome?
Diagnosis: Lennox-Gastaut Syndrome (LGS)
- Multiple seizure types, cognitive decline
- EEG: Slow spike-wave
119
131. A neonate has poor feeding, hypotonia, and seizures. Blood tests show hyperglycinemia. What is the likely diagnosis?
Diagnosis: Nonketotic Hyperglycinemia
- AR disorder
- High glycine in CSF and plasma
- EEG: Burst suppression
- Poor prognosis
120
140. What is the typical EEG finding in absence seizures?
EEG: 3 Hz generalized spike-and-wave pattern
- Highly characteristic of absence epilepsy
- Induced by hyperventilation
121
133. A 2-month-old has seizures and MRI shows smooth cerebral cortex without normal gyri. What is this condition?
Condition: Lissencephaly
- Neuronal migration disorder
- Severe developmental delay, epilepsy
- MRI: Absence of gyri
122
122. A 2-year-old has an intractable seizure disorder, intellectual disability, and a facial vascular lesion. What syndrome should be considered?
Diagnosis: Sturge-Weber Syndrome
- Triad: Port-wine stain, seizures, ID
- Imaging: Cortical calcifications
123
172. A teenager presents with morning myoclonic jerks and generalized tonic-clonic seizures. Family history is positive. Diagnosis?
Diagnosis: Juvenile Myoclonic Epilepsy (JME)
- Morning myoclonus, GTC seizures, family history
- EEG: Polyspike and wave
124
126. What seizure type is characterized by sudden loss of postural tone and high risk of injury?
Seizure type: Atonic seizure (Drop attack)
- Sudden loss of tone, common in LGS
- Requires helmet protection
125
146. What is the most common metabolic cause of neonatal seizures?
Most common cause: Hypoxic-Ischemic Encephalopathy (HIE)
- Others: Hypoglycemia, hypocalcemia
- Must check glucose, calcium, electrolytes
126
174. A child presents with hemiplegia, seizures, and imaging shows a calcified cortex with pial angioma. What syndrome is likely?
Diagnosis: Sturge-Weber Syndrome
- Features: Port-wine stain, seizures, hemiparesis
- Imaging: Cortical calcifications, pial angioma
127
121. A child presents with microcephaly, seizures, intracranial calcifications, and chorioretinitis. What congenital infection is most likely?
Most likely infection: Congenital Toxoplasmosis
- Triad: Chorioretinitis, hydrocephalus, intracranial calcifications
- Diagnosis: Toxoplasma IgM/IgA or PCR
128
1. A 3-year-old boy presents with recurrent staring episodes lasting 10 seconds. There is no postictal confusion. EEG shows 3 Hz spike-and-wave discharges. What is the most likely diagnosis?
Diagnosis: Childhood Absence Epilepsy (CAE)
- Typical onset: 4–10 years
- EEG: 3 Hz spike-and-wave
- No postictal state
- Management: Ethosuximide or valproate
129
114. A child develops behavioral changes, seizures, and progressive neurological decline years after measles infection. EEG shows periodic complexes. What is the diagnosis?
Diagnosis: Subacute Sclerosing Panencephalitis (SSPE)
- Late complication of measles
- EEG: Periodic complexes
- CSF: Raised anti-measles antibody
130
115. A newborn with jitteriness, high-pitched cry, and seizures is found to have low serum calcium. What is the likely etiology?
Etiology: Neonatal Hypocalcemia
- Can be early (in IDM or prematurity) or late (high phosphate formula)
- Symptoms: Jitteriness, seizures
131
53. A child with developmental delay, seizures, hyperactivity, inappropriate laughter, and microcephaly. What is the diagnosis?
Diagnosis: Angelman Syndrome
- Happy demeanor, seizures, microcephaly
- Deletion of maternal 15q11-q13
- Puppet-like gait
132
51. A 5-year-old child presents with progressive spasticity, seizures, and optic atrophy. MRI shows cerebral atrophy and white matter changes. What is the most likely diagnosis?
Diagnosis: Pelizaeus-Merzbacher Disease
- Leukodystrophy with spasticity, optic atrophy, and seizures
- X-linked recessive
- PLP1 gene mutation
133
50. A term newborn with microcephaly, seizures, and intracranial calcifications. The mother had a febrile illness during pregnancy. What is the most probable infection?
Diagnosis: Congenital Toxoplasmosis
- Triad: Chorioretinitis, hydrocephalus, intracranial calcifications
- Maternal infection during pregnancy
134
47. A child with history of seizure shows bilateral calcifications in basal ganglia on CT scan. What is the most probable cause?
Diagnosis: Congenital CMV infection
- Intracranial calcifications (periventricular)
- Sensorineural hearing loss, microcephaly
- Diagnosis: PCR CMV in urine/saliva
135
42. A child presents with progressive vision loss, seizures, and developmental regression. Cherry red spot is seen on fundoscopy and hepatosplenomegaly is present. What is the most likely diagnosis?
Diagnosis: Niemann-Pick Disease
- Cherry red spot + hepatosplenomegaly
- Sphingomyelinase deficiency
- AR inheritance
136
39. A 5-year-old boy presents with hemiplegia post-seizure. He regains function over the next 24–48 hours. What is this phenomenon called?
Phenomenon: Todd's Paralysis
- Postictal transient weakness
- Resolves within 24–48 hours
137
36. A neonate develops seizures within the first 24 hours of life. Birth history reveals perinatal asphyxia. What is the most probable cause?
Diagnosis: Hypoxic-Ischemic Encephalopathy (HIE)
- Common cause of early neonatal seizures
- Risk factors: Birth asphyxia, low Apgar scores
138
35. A child with known epilepsy presents with sudden worsening of seizures and hyponatremia after starting a new medication. Which drug is likely responsible?
Likely drug: Carbamazepine
- Can cause SIADH and hyponatremia
- Especially important in children and elderly
139
57. A neonate presents with seizures and lethargy. CT brain shows infarcts and thrombosis of cerebral sinuses. What risk factor is most likely?
Risk Factor: Neonatal Dehydration
- Leading cause of cerebral sinovenous thrombosis
- May also be associated with sepsis or polycythemia
140
33. A child presents with continuous focal seizures involving one limb for over 30 minutes without regaining consciousness. What is the term for this condition?
Diagnosis: Epilepsia Partialis Continua
- Continuous focal seizures without impaired consciousness
- Often due to cortical lesion or inflammation
141
27. A 4-year-old boy presents with progressive loss of milestones, spasticity, seizures, and macrocephaly. MRI shows white matter changes. What is the diagnosis?
Diagnosis: Canavan Disease
- AR leukodystrophy
- Megalencephaly, spongy degeneration of white matter
- Diagnosis: N-acetylaspartic acid in urine
142
24. A neonate presents with seizure on day 3 of life, poor feeding, hypotonia, and high-pitched cry. Urine has a musty odor. What is the diagnosis?
Diagnosis: Phenylketonuria (PKU)
- AR disorder, musty odor urine, seizures, microcephaly
- Defect: Phenylalanine hydroxylase
143
21. A 6-year-old girl presents with seizures and signs of early puberty. On exam, she has café-au-lait spots and fibrous dysplasia of bone. What is the most likely diagnosis?
Diagnosis: McCune-Albright Syndrome
- Triad: Precocious puberty, café-au-lait spots, fibrous dysplasia of bone
- Mutation in GNAS gene
144
19. A 4-year-old child presents with facial port-wine stain in the trigeminal distribution, seizures, and hemiparesis. What is the diagnosis?
Diagnosis: Sturge-Weber Syndrome
- Features: Port-wine stain, leptomeningeal angiomas, seizures, glaucoma
- Imaging: CT/MRI with contrast
145
12. A neonate presents with poor feeding, hypotonia, and seizures. There is a strong urine odor resembling maple syrup. What is the most likely diagnosis?
Diagnosis: Maple Syrup Urine Disease (MSUD)
- Defect in branched-chain alpha-keto acid dehydrogenase
- Maple syrup odor, poor feeding, encephalopathy
- Elevated leucine, isoleucine, valine
146
9. A 5-year-old child presents with febrile seizures lasting less than 15 minutes, generalized, and not recurring within 24 hours. What is the most appropriate management?
Diagnosis: Simple Febrile Seizure
- Generalized, <15 minutes, non-recurrent within 24 hrs
- No investigations needed if history is typical
- Educate family, antipyretics; no long-term AEDs required
147
6. A 10-year-old boy presents with recent-onset headache, vomiting, and morning seizures. MRI reveals a posterior fossa tumor compressing the fourth ventricle. What is the most likely diagnosis?
Diagnosis: Medulloblastoma
- Most common malignant brain tumor in children
- Typically arises in the cerebellar vermis
- Causes obstructive hydrocephalus due to 4th ventricle compression
148
4. A school-aged child presents with morning myoclonic jerks, generalized tonic-clonic seizures, and normal development. EEG shows 4–6 Hz polyspike and wave discharges. What is the diagnosis?
Diagnosis: Juvenile Myoclonic Epilepsy (JME)
- Age of onset: Adolescence
- Myoclonic jerks in the morning
- EEG: 4–6 Hz polyspike and wave
- Treatment: Valproic acid (avoid carbamazepine)
149
3. A 2-year-old boy presents with developmental delay and seizures. MRI shows bilateral subependymal nodules. Skin exam reveals ash-leaf spots. What is the most likely diagnosis?
Diagnosis: Tuberous Sclerosis Complex (TSC)
- Features: Seizures, developmental delay, ash-leaf spots, shagreen patch, subependymal nodules
- Risk: Subependymal giant cell astrocytoma (SEGA)
- Genetics: TSC1/TSC2 mutation
150
29. A child with history of focal seizures, facial angiofibromas, and cortical tubers on MRI. What is the diagnosis?
Diagnosis: Tuberous Sclerosis
- Triad: Seizures, facial angiofibromas, intellectual disability
- Imaging: Cortical tubers, subependymal nodules
151
60. A 5-year-old girl has brief, sudden jerks of her upper limbs in the morning. EEG shows generalized spike-wave discharges. What is the diagnosis?
Diagnosis: Juvenile Myoclonic Epilepsy (JME)
- Myoclonic jerks, typically morning
- EEG: 4–6 Hz polyspike and wave discharges
- Treatment: Valproate
152
180. What EEG pattern is typical of benign epilepsy with centrotemporal spikes?
EEG: Centrotemporal spikes
- Diagnosis: Benign Rolandic Epilepsy (BRE)
- Self-resolving focal seizures in childhood
153
69. A 7-year-old child presents with behavioral changes, seizures, and chorea. ASO titer is high. What is the most likely diagnosis?
Diagnosis: Sydenham’s Chorea (Rheumatic chorea)
- Post-streptococcal autoimmune
- Features: Chorea, behavior change, hypotonia
- Part of Jones criteria
154
64. A neonate has seizures, a large anterior fontanelle, and hypotonia. Urine shows increased orotic acid. What is the diagnosis?
Diagnosis: Ornithine Transcarbamylase (OTC) Deficiency
- X-linked urea cycle disorder
- Elevated orotic acid, hyperammonemia
- Management: Protein restriction, sodium benzoate
155
110. A 4-year-old child presents with macrocephaly, seizures, and developmental delay. MRI shows bilateral frontotemporal cysts. What is the diagnosis?
Diagnosis: Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)
- AR condition
- Early macrocephaly, seizures
- MRI: Frontotemporal cysts
156
100. A 5-year-old with sudden loss of muscle tone causing falls while awake but alert. EEG shows generalized spike-wave discharges. What is the type of seizure?
Type: Atonic Seizures (Drop Attacks)
- Sudden loss of postural tone
- EEG: Generalized spike-wave or slow spike-wave
- Seen in Lennox-Gastaut Syndrome
157
92. A child presents with focal seizures, intellectual disability, and a 'railroad track' appearance on skull X-ray. What is the diagnosis?
Diagnosis: Sturge-Weber Syndrome
- Seizures, ID, facial port-wine stain
- Skull X-ray: 'Tram-track' calcifications
- Leptomeningeal angiomas
158
106. A 5-year-old presents with fever, altered sensorium, and focal seizures. CSF shows lymphocytosis, normal glucose, elevated protein. MRI shows temporal lobe hyperintensity. What is the diagnosis?
Diagnosis: Herpes Simplex Virus Encephalitis
- Features: Fever, seizures, altered mental status
- MRI: Temporal lobe hyperintensity
- CSF: Lymphocytes, normal glucose
- Treat with IV acyclovir
159
105. A child has seizures and an EEG shows 3 Hz spike-and-wave discharges. What epilepsy syndrome is most likely?
Diagnosis: Childhood Absence Epilepsy
- EEG: 3 Hz spike-and-wave pattern
- Brief, frequent staring episodes
160
104. A child with new-onset seizures has an EEG showing hypsarrhythmia. What is the most likely diagnosis?
Diagnosis: Infantile Spasms (West Syndrome)
- EEG: Hypsarrhythmia
- Triad: Spasms, regression, EEG changes
161
82. A neonate with seizures, hypotonia, midline facial defects, and polydactyly. MRI shows holoprosencephaly. What syndrome is associated?
Associated syndrome: Patau Syndrome (Trisomy 13)
- Midline facial defects, holoprosencephaly, polydactyly
- Poor prognosis
162
78. A neonate has generalized seizures, midline facial defects, and MRI shows absence of septum pellucidum. What is the diagnosis?
Diagnosis: Holoprosencephaly
- Failure of forebrain division
- Midline defects (cleft lip/palate), seizures
- Associated with chromosomal anomalies (trisomy 13)
163
77. A 5-year-old with a history of delayed milestones, seizures, and coarse facial features. Urinary mucopolysaccharides are elevated. What is the diagnosis?
Diagnosis: Hurler Syndrome (MPS I)
- AR disorder
- Features: Coarse facies, developmental delay, hepatosplenomegaly
- Diagnosis: Enzyme assay, urinary GAGs
164
74. A neonate presents with seizures, microcephaly, and intracranial calcifications in the basal ganglia. What is the most likely TORCH infection?
Most likely infection: CMV (Cytomegalovirus)
- Features: Periventricular calcifications, microcephaly, sensorineural hearing loss
- Diagnosis: CMV PCR
165
70. A child presents with focal seizures and facial nevus. CT shows gyriform calcifications. What is the diagnosis?
Diagnosis: Sturge-Weber Syndrome
- Triad: Facial port-wine stain, seizures, leptomeningeal angiomas
- Imaging: Gyriform (tram-track) calcifications
166
A 7-year-old boy presents with two early morning seizures over the past month. Each episode involved twitching of the right side of his face, drooling, and inability to speak, lasting less than 2 minutes. He remained conscious throughout and has a normal developmental history.
---
This is classic for Benign Rolandic Epilepsy (BRE), also called BECTS.
Key supportive features:
Age 4–10 years
Focal seizures involving the face and speech muscles
Preserved awareness
Occur during sleep or upon awakening
Normal neurological exam
Diagnosis is confirmed with an EEG showing centrotemporal spikes, often activated during sleep.
Prognosis is excellent — seizures usually remit by adolescence.
No treatment is needed unless seizures are frequent or interfere with daily life.
167
109. A child with intractable seizures is on valproate and presents with vomiting, altered mental status, and hyperammonemia. What is the likely cause?
Likely cause: Valproate-induced hyperammonemia
- Mechanism: Inhibits urea cycle
- Monitor ammonia levels
- Stop valproate, give carnitine
168
8. A 7-year-old boy presents with attention difficulties, facial grimacing, and frequent blinking. Symptoms worsen with stress and improve during sleep. What is the most likely diagnosis?
Diagnosis: Transient Tic Disorder or Tourette Syndrome (if >1 year + vocal tics)
- Onset before age 18
- Motor and/or vocal tics
- Management: Education, behavioral therapy, clonidine or antipsychotics if severe
169
20. A school-aged child presents with daytime sleepiness, cataplexy, and hypnagogic hallucinations. What is the most likely diagnosis?
Diagnosis: Narcolepsy
- Tetrad: Daytime sleepiness, cataplexy, hypnagogic hallucinations, sleep paralysis
- Confirm: Sleep study, multiple sleep latency test
170
104. A child has recurrent episodes of waking from sleep screaming, with autonomic signs, and no memory of the event. EEG is normal. What is the diagnosis?
Diagnosis: Sleep Terror (Parasomnia)
- Occurs in NREM sleep (1st third of night)
- Autonomic signs, no recall
- Self-limited, reassurance
171
167. A 7-year-old presents with episodes of screaming during sleep, autonomic symptoms, and no recall in the morning. What is the diagnosis?
Diagnosis: Sleep Terror (Pavor nocturnus)
- Occurs in NREM stage 3 sleep
- No memory of event
- Self-limiting
172
161. A 10-year-old with recurrent headaches associated with nausea, photophobia, and relief after sleep. What is the diagnosis?
Diagnosis: Migraine without aura (common migraine)
- Typical features: nausea, photophobia, phonophobia
- Diagnosis: Clinical; treat with lifestyle and abortives
173
102. A child with VP shunt presents with vomiting, headache, lethargy, and bradycardia. What is the most likely complication?
Complication: VP Shunt Malfunction
- Signs: Raised ICP (vomiting, lethargy, bradycardia)
- Diagnose via CT brain or shunt series
- Management: Neurosurgical revision
174
101. A neonate with macrocephaly, bulging fontanelle, and sunset eye sign. CT shows dilated ventricles. What type of hydrocephalus is most likely?
Diagnosis: Obstructive (Non-communicating) Hydrocephalus
- Features: Macrocephaly, bulging fontanelle, sunset sign
- Often due to aqueductal stenosis
175
102. A child with VP shunt for hydrocephalus presents with headache, vomiting, and decreased consciousness. What is the most likely complication?
Complication: VP Shunt Malfunction
- Symptoms: Raised ICP signs
- Requires neuroimaging and possible surgical revision
176
164. A neonate with occipital meningocele, enlarged posterior fossa, and hypoplastic cerebellar vermis. What is the likely diagnosis?
Diagnosis: Dandy-Walker Malformation
- Posterior fossa cyst, cerebellar vermis hypoplasia
- May cause hydrocephalus
- Seen in syndromes and sporadically
177
103. What is the most common cause of congenital hydrocephalus?
Most common cause: Aqueductal Stenosis
- Obstructs CSF flow between 3rd and 4th ventricle
- Leads to non-communicating hydrocephalus
178
89. A child with recurrent headaches, vomiting, early morning worsening, and papilledema. CT shows posterior fossa mass. What is the most likely tumor?
Most likely tumor: Medulloblastoma
- Most common malignant posterior fossa tumor in children
- Arises from cerebellar vermis
179
107. A child with TB meningitis presents with confusion, cranial nerve palsies, and hydrocephalus. CSF shows low glucose, high protein, and lymphocytes. What is the typical imaging finding?
Imaging: Basal meningeal enhancement and hydrocephalus
- TB meningitis findings
- Diagnosis: CSF and imaging
- Management: Anti-TB + steroids
180
144. A 10-year-old with headache, vomiting, and ataxia. MRI shows a midline posterior fossa mass compressing the fourth ventricle. Likely tumor?
Likely tumor: Medulloblastoma
- Most common posterior fossa tumor
- Compresses 4th ventricle → hydrocephalus
