Neurology Flashcards
- A 4-year-old girl presents with truncal ataxia, nystagmus, and vomiting. MRI shows cerebellar mass. Likely tumor?
Diagnosis: Pilocytic Astrocytoma
- Most common cerebellar tumor in children
- Good prognosis
- Cyst with mural nodule on imaging
- A 2-year-old boy presents with myoclonus, ataxia, and opsoclonus. A neuroblastoma is found on imaging. What is the syndrome called?
Syndrome: Opsoclonus-Myoclonus-Ataxia Syndrome
- Paraneoplastic syndrome associated with neuroblastoma
- Autoimmune origin
- 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?
Diagnosis: Spinocerebellar Ataxia (SCA)
- AD neurodegenerative disorder
- Features: Ataxia, tremor, dysarthria
- Diagnosis: Genetic testing
- A 6-year-old presents with new-onset ataxia and dysmetria following a viral illness. MRI is normal. What is the most likely diagnosis?
Diagnosis: Acute Cerebellar Ataxia
- Common post-viral condition in children
- Self-limited, supportive management
- MRI usually normal
- 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?
Diagnosis: Friedreich Ataxia
- AR inheritance, GAA repeat expansion
- Ataxia, dysarthria, areflexia, cardiomyopathy
- Diagnosis: Genetic testing
- 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?
Diagnosis: Lenticulostriate Vasculopathy in Sickle Cell Disease
- Post-minor trauma stroke
- MRI: Basal ganglia infarct
- Consider screening and chronic transfusion
- A child presents with transient ischemic attacks and progressive strokes. Angiography shows collateral ‘puff of smoke’ vessels. What is the diagnosis?
Diagnosis: Moya-Moya Disease
- Progressive occlusion of cerebral arteries
- Puff of smoke collaterals on angiography
- Common in Asian populations
- A 6-year-old boy with a history of NF1 presents with stroke symptoms. What vascular abnormality is most likely?
Vascular abnormality: Moya-Moya Syndrome
- Can be associated with NF1
- Causes progressive ischemic strokes
- A child presents with vertigo, nystagmus, and vomiting. MRI shows infarction in the cerebellar territory. Which artery is likely involved?
Artery: Posterior Inferior Cerebellar Artery (PICA)
- PICA stroke causes vertigo, ataxia, nystagmus, vomiting
- 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?
Hematologic condition: Sickle Cell Disease
- Vaso-occlusive strokes common in children
- Management: Chronic transfusion, stroke prevention
- A 6-year-old child with sudden onset of vision loss, pain on eye movement, and relative afferent pupillary defect. MRI shows demyelination in the optic nerve. What is the diagnosis?
Diagnosis: Optic Neuritis
- Painful vision loss, RAPD
- MRI: Demyelination
- Can be initial presentation of MS or post-viral
- A child presents with horizontal gaze palsy, difficulty abducting one eye, and nystagmus in the other. What syndrome is this?
Diagnosis: Internuclear Ophthalmoplegia (INO)
- Disorder of MLF (medial longitudinal fasciculus)
- Horizontal gaze palsy, nystagmus
- Can be due to MS in children
- A 6-month-old infant presents with increasing head circumference, bulging fontanelle, and sunset eye sign. What is the diagnosis and likely complication?
Diagnosis: Hydrocephalus
- Symptoms: Bulging fontanelle, sunset sign
- Complication: Raised ICP, brain herniation
- Confirm with neuroimaging (USG, CT)
- A child with parkinsonism, hepatosplenomegaly, and vertical gaze palsy. Bone marrow shows foam cells. What is the diagnosis?
Diagnosis: Niemann-Pick Disease Type C
- Features: Hepatosplenomegaly, gaze palsy, neuroregression
- Foam cells in marrow
- A child with optic glioma and multiple café-au-lait spots. Which gene is mutated?
Gene: NF1 gene (Neurofibromin)
- Chromosome 17
- Associated with Neurofibromatosis type 1
- 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?
Diagnosis: Bell’s Palsy
- Idiopathic facial nerve (CN VII) palsy
- Unilateral LMN type facial weakness
- Treatment: Supportive, sometimes steroids
- A child presents with multiple café-au-lait spots, Lisch nodules, and optic glioma. What is the diagnosis?
Diagnosis: Neurofibromatosis type 1 (NF1)
- AD condition
- Café-au-lait spots, Lisch nodules, optic glioma
- NF1 gene on chromosome 17
- A child with hepatosplenomegaly, vertical supranuclear gaze palsy, and cherry red spot. What is the diagnosis?
Diagnosis: Niemann-Pick Disease Type A
- Features: HSM, cherry red spot, neurodegeneration
- Sphingomyelinase deficiency
- A 10-year-old presents with severe, throbbing headache, photophobia, nausea, and family history of similar episodes. What is the diagnosis?
Diagnosis: Migraine without aura
- Features: Throbbing headache, nausea, photophobia
- Common in older children/adolescents
- Treatment: NSAIDs, triptans (if >12y)
- A child has persistent headache, vomiting, and papilledema. MRI is normal. What is the next best test?
Next test: MRV (Magnetic Resonance Venography)
- To rule out cerebral venous sinus thrombosis
- Especially in pseudotumor cerebri
- A 10-year-old girl presents with headaches, visual disturbances, and papilledema. CT scan is normal. What is the next best investigation?
Next step: MRI brain with MRV (to assess for Idiopathic Intracranial Hypertension)
- CT can be normal
- Look for venous sinus thrombosis
- A child with headaches and visual symptoms. MRI shows cerebellar tonsillar herniation below the foramen magnum. What is the diagnosis?
Diagnosis: Chiari Malformation Type I
- Cerebellar tonsil herniation >5 mm
- May present with headaches, syncope, scoliosis
- A child presents with headache and cranial nerve palsies. MRI shows basal meningeal enhancement. What is the most likely diagnosis?
Diagnosis: Tuberculous Meningitis
- Basal meningeal enhancement, cranial neuropathies
- Confirm with CSF AFB or PCR
- 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?
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
- 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
- Which leukodystrophy presents with macrocephaly, spasticity, and elevated NAA ( N acetyl aspartate ) on MRS?
Leukodystrophy: Canavan Disease
- Elevated NAA on spectroscopy
- Macrocephaly, spongy degeneration
- What is the classic MRI finding in metachromatic leukodystrophy?
MRI: Periventricular white matter demyelination with tigroid appearance
- Involves central and subcortical U-fibers
- 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
- 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
- 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
- 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
- What is the typical MRI appearance of tuberous sclerosis?
MRI appearance: Cortical tubers, subependymal nodules, SEGA
- Often calcified
- Pathognomonic for tuberous sclerosis
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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)
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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)
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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)
- 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
- 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
- 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
- What is the characteristic MRI finding in Canavan disease?
MRI: Diffuse symmetric white matter swelling
- Spongiform degeneration of cerebral white matter
- Elevated N-acetylaspartate
- 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
- 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
- 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
- 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
- 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
- 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
- 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)
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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)
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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)
- 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
- 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
- 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
- A 4-year-old boy presents with febrile seizures and delayed speech. EEG shows centrotemporal spikes. What is the most likely diagnosis?
Diagnosis: Benign Rolandic Epilepsy (BRE)
- Centrotemporal spikes on EEG
- Self-limiting focal epilepsy of childhood
- Normal development
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
