Neurology Practice Questions

Q: An 8-year-old boy presents with intellectual deterioration and myoclonus. What is the most likely diagnosis?

Subacute sclerosing panencephalitis (SSPE). **Explanation:** The clinical presentation of an 8-year-old boy with **intellectual deterioration** (cognitive decline) and **myoclonus** is a classic description of **Subacute Sclerosing Panencephalitis (SSPE)**. **1. Why SSPE is the Correct Answer:** SSPE is a progressive, fatal neurodegenerative disease caused by a persistent infection with a mutant **Measles virus**. It typically occurs 5–10 years after the initial measles infection. The disease progresses through four stages: * **Stage 1:** Behavioral changes and intellectual decline. * **Stage 2:** Motor symptoms, most characteristically **periodic myoclonus** (brief, sudden muscle jerks). * **Stage 3:** Extrapyramidal symptoms and dementia. * **Stage 4:** Vegetative state and death. **2. Why Other Options are Incorrect:** * **CJD and GSS syndrome:** While these are Prion diseases that cause dementia and myoclonus, they are extremely rare in the pediatric age group. CJD typically affects adults aged 50–70. * **Kuru:** This is a prion disease historically associated with ritualistic cannibalism in Papua New Guinea; it is now virtually extinct and does not fit the typical demographic or presentation. **3. NEET-PG High-Yield Pearls for SSPE:** * **EEG Finding:** Characterized by **periodic, high-voltage slow-wave complexes** (Radermecker complexes). * **CSF Analysis:** Shows significantly **elevated anti-measles antibody titers** and oligoclonal bands (but normal protein/pressure). * **MRI:** Shows diffuse white matter hyperintensities. * **Prevention:** The most effective "treatment" is prevention via the **Measles (MMR) vaccine**.

Q: A newborn is admitted for high-output cardiac failure after presenting with seizures. CT shows dilated lateral ventricles suggestive of hydrocephalus. What is the most probable diagnosis?

Vein of Galen Malformation. **Explanation:** The clinical triad of **high-output cardiac failure (HOCF)**, **seizures**, and **hydrocephalus** in a newborn is classic for a **Vein of Galen Malformation (VOGM)**. **Why B is correct:** VOGM is an arteriovenous malformation where cerebral arteries drain directly into a dilated embryonic precursor of the Vein of Galen. This creates a massive **left-to-right shunt**. The high volume of blood returning to the right heart leads to volume overload and HOCF. Hydrocephalus occurs due to the dilated venous sac compressing the Aqueduct of Sylvius, obstructing CSF flow. Seizures result from "steal phenomenon" (ischemia to surrounding brain tissue) or venous hypertension. **Why the other options are incorrect:** * **A. Cavernous Malformation:** These are low-flow vascular lesions. They typically present with seizures or focal deficits in older children/adults but do not cause systemic heart failure. * **C. Moyamoya Disease:** This is a chronic occlusive cerebrovascular disease characterized by "puff of smoke" collateral vessels. It typically presents with strokes or TIAs in older children, not HOCF in neonates. * **D. Central Venous Angioma:** These are common, benign venous anomalies (Developmental Venous Anomalies) that are usually asymptomatic and do not cause high-flow shunting. **NEET-PG High-Yield Pearls:** * **Gold Standard Diagnosis:** Digital Subtraction Angiography (DSA). * **Initial Screening:** Cranial Ultrasonography (Doppler shows turbulent flow). * **Management:** Endovascular embolization is the treatment of choice (usually delayed until 5-6 months if the child is stable). * **Clinical Sign:** A continuous bruit may be heard over the anterior fontanelle.

Q: Which of the following is not used in the prophylaxis of febrile seizures?

Carbamazepine. **Explanation:** The management of febrile seizures focuses on distinguishing between drugs that are effective for prophylaxis and those that are ineffective or even counterproductive. **1. Why Carbamazepine is the Correct Answer:** **Carbamazepine** (and Phenytoin) are notoriously **ineffective** in preventing the recurrence of febrile seizures. Clinical studies have shown that these drugs do not reduce the risk of further febrile episodes. Furthermore, in some pediatric seizure syndromes (like Dravet syndrome, which can present with febrile seizures), Carbamazepine can actually exacerbate seizures. **2. Analysis of Incorrect Options:** * **Diazepam (Option D):** This is the drug of choice for **intermittent prophylaxis**. It is administered only during the onset of a fever (0.3 mg/kg every 8 hours) to prevent a seizure from occurring. * **Phenobarbitone (Option C) & Sodium Valproate (Option A):** Both are effective for **continuous prophylaxis**. While they significantly reduce the risk of recurrence, they are rarely used today due to their side-effect profiles (behavioral issues with Phenobarbitone and hepatotoxicity/weight gain with Valproate). **3. Clinical Pearls for NEET-PG:** * **Definition:** Febrile seizures occur between **6 months and 5 years** of age associated with fever, in the absence of CNS infection. * **Prophylaxis Indications:** Generally not recommended for "Simple" febrile seizures. It is considered only for "Complex" seizures (prolonged >15 mins, focal, or recurrent within 24 hours) or significant parental anxiety. * **Drug of Choice for Acute Episode:** Per-rectal or Intravenous Diazepam (or Midazolam). * **Gold Standard for Intermittent Prophylaxis:** Oral/Rectal Diazepam.

Q: A 1-day-old male baby delivered by LSCS has swelling over the back in the midline. Which of the following is the most likely cause?

Meningomyelocele. **Explanation:** The clinical presentation of a midline swelling over the back in a newborn is a classic sign of a **Neural Tube Defect (NTD)**. **Why Meningomyelocele is correct:** Meningomyelocele is the most common and severe form of open spinal dysraphism. It involves the herniation of both the **meninges and the spinal cord/nerve roots** through a vertebral defect. It typically presents at birth as a fluid-filled sac, often lacking skin cover (placode exposed), making it the most likely diagnosis for a visible midline swelling in a neonate. **Analysis of Incorrect Options:** * **A. Spinal dysraphism:** This is a broad "umbrella term" that encompasses all forms of spinal malformations (including spina bifida occulta and cystica). While technically true, "Meningomyelocele" is the specific clinical diagnosis for the described lesion. * **C. Lipomyelomeningocele:** This is a form of closed spinal dysraphism where a lipoma is attached to the spinal cord. While it presents as a swelling, it is usually skin-covered and less common than a classic meningomyelocele in general neonatal presentations. * **D. Dermoid cyst:** These are slow-growing tumors that may occur along the neuraxis but are rarely the primary cause of a prominent midline swelling noted immediately at birth compared to NTDs. **High-Yield Clinical Pearls for NEET-PG:** * **Prevention:** Periconceptional **Folic Acid (400 mcg/day)** reduces the risk of NTDs by 70%. For women with a previous affected child, the dose is **4 mg/day**. * **Screening:** Elevated **Maternal Serum Alpha-Fetoprotein (MSAFP)** at 15-20 weeks is a screening marker; diagnosis is confirmed via "Lemon sign" or "Banana sign" on ultrasound. * **Association:** Meningomyelocele is frequently associated with **Arnold-Chiari Malformation Type II** and hydrocephalus.

Q: A patient presents with intractable convulsions, mental defect, and a facial nevus. What is the most likely diagnosis?

Sturge-Weber syndrome. ### Explanation The clinical triad of **intractable convulsions (seizures)**, **mental retardation**, and a **facial nevus** (specifically a Port-wine stain) is the classic presentation of **Sturge-Weber Syndrome (SWS)**, also known as Encephalotrigeminal Angiomatosis. **1. Why Sturge-Weber Syndrome is Correct:** SWS is a neurocutaneous disorder characterized by a congenital capillary malformation. * **Facial Nevus:** A Port-wine stain (Nevus Flammeus) usually follows the distribution of the ophthalmic (V1) and maxillary (V2) branches of the trigeminal nerve. * **Neurological involvement:** Leptomeningeal angiomas (usually ipsilateral to the skin lesion) lead to cortical ischemia, resulting in refractory seizures and progressive intellectual disability. * **Imaging:** Skull X-rays or CT scans often show "tram-track" calcifications in the cerebral cortex. **2. Why the Other Options are Incorrect:** * **Tuberous Sclerosis:** Presents with the "Vogt triad" of seizures, mental retardation, and **Adenoma Sebaceum** (angiofibromas). It does not feature a flat facial nevus. Other signs include Ash-leaf spots and Shagreen patches. * **Von-Hippel-Lindau (VHL) Disease:** Characterized by hemangioblastomas of the cerebellum and retina, and renal cell carcinoma. It lacks the classic facial nevus and early-onset intractable seizures. * **Von Recklinghausen Disease (NF-1):** Characterized by Café-au-lait spots, Lisch nodules, and neurofibromas. It does not present with a Port-wine stain. **Clinical Pearls for NEET-PG:** * **Inheritance:** SWS is **sporadic** (not inherited), caused by a somatic mutation in the *GNAQ* gene. * **Ocular finding:** Glaucoma is the most common ocular manifestation (present in ~50% of cases). * **Radiology:** Look for the keyword **"Tram-track calcifications"** on CT/X-ray. * **Treatment:** Focuses on seizure control and managing intraocular pressure; Port-wine stains are treated with Pulse Dye Laser.

Q: A 4-month-old child presents with excessive irritability and crying, unexplained hyperpyrexia, vomiting, and difficulty feeding for the last 15 days. On admission, the child has rigidity and visual inattentiveness. A CT scan of the brain shows specific findings. What is the probable diagnosis?

Krabbe disease. ***Krabbe disease*** - Classic **infantile onset** at 3-6 months with **excessive irritability**, **hyperpyrexia**, and **feeding difficulties** strongly suggests Krabbe disease. - CT shows characteristic **hyperdense thalami** and **basal ganglia** with **periventricular white matter changes** and **rigidity** with **visual inattentiveness** are hallmark features. *Alexander disease* - Typically presents with **macrocephaly** and **developmental delay** rather than acute irritability and fever. - CT shows **frontal lobe predominance** with **white matter changes** and **Rosenthal fibers** on histology, not the thalamic hyperdensity seen here. *Metachromatic leukodystrophy* - Usually presents **later** (18-24 months) with **progressive motor regression** and **gait abnormalities**. - CT shows **symmetric periventricular demyelination** without the **hyperdense thalami** characteristic of Krabbe disease. *Adrenoleukodystrophy* - Typically affects **school-age boys** (4-8 years) with **behavioral changes** and **adrenal insufficiency**. - CT demonstrates **occipital-parietal white matter lesions** with **contrast enhancement**, distinct from the basal ganglia involvement in this case.

Q: What is the drug of choice for treating myoclonus in children?

Sodium Valproate. **Explanation:** **Sodium Valproate** is the drug of choice (DOC) for myoclonus in children because it is a broad-spectrum antiepileptic drug that enhances GABAergic transmission and inhibits T-type calcium channels and voltage-gated sodium channels. It is uniquely effective against generalized seizure types, particularly myoclonic, absence, and tonic-clonic seizures. **Analysis of Options:** * **Sodium Valproate (Correct):** It is the first-line treatment for Myoclonic-Astatic Epilepsy (Doose syndrome) and Juvenile Myoclonic Epilepsy (JME). * **Clonazepam:** While highly effective for acute myoclonic episodes due to its potent GABAergic action, it is generally considered a second-line or adjunctive therapy because of side effects like sedation, drooling, and the development of tolerance. * **Phenobarbitone:** Primarily used for neonatal seizures and focal seizures. It is not the preferred agent for myoclonus and can sometimes exacerbate certain generalized seizure types. * **Ethosuximide:** This is the drug of choice for **pure absence seizures** only. It lacks significant activity against myoclonic or tonic-clonic seizures. **Clinical Pearls for NEET-PG:** * **Avoidance:** Carbamazepine, Oxcarbazepine, and Phenytoin should be avoided in myoclonic seizures as they can **exacerbate** myoclonus. * **Alternative:** Levetiracetam is an excellent second-line agent or alternative if Valproate is contraindicated. * **Side Effects:** Remember the "VALPROATE" mnemonic: Weight gain, Alopecia, Liver toxicity, Pancreatitis, Retained fat (Obesity), Oedema, Anorexia, Tremor, and Teratogenicity (Neural tube defects).

Question 1

An 8-year-old boy presents with intellectual deterioration and myoclonus. What is the most likely diagnosis?

Accepted Answer

Subacute sclerosing panencephalitis (SSPE)

Answer

Gerstmann-Sträussler-Scheinker (GSS) syndrome

Answer

Kuru

Answer

Creutzfeldt-Jakob disease (CJD)

Question 2

A patient diagnosed with febrile convulsions is in the pediatric emergency. Which of the following can be used for the treatment of this patient?

Accepted Answer

Rectal diazepam

Answer

Intramuscular phenobarbitone

Answer

Intravenous phenytoin

Answer

Oral sodium valproate

Question 3

A 5-year-old male presented with a chief complaint of difficulty in climbing stairs and getting up from a sitting position. There was a history of a maternal uncle having the same illness. On examination, there was pseudohypertrophy of the calf muscle. A muscle biopsy was performed. What is your diagnosis?

Accepted Answer

Duchenne muscular dystrophy

Answer

Myotonic dystrophy

Answer

Facioscapulohumeral muscular dystrophy

Answer

Nemaline myopathy

Question 4

What is the most common clinical sign or symptom for the diagnosis of Tuberous sclerosis?

Accepted Answer

An infant with infantile spasms, a hypsarrhythmic EEG pattern, and ash-leaf depigmentation on her back

Answer

A 6-month-old child with blindness on the same side as a large facial lesion

Answer

An 18-year-old patient with a history of fractures and optic gliomas, who now has developed a malignant schwannoma

Answer

A 2-year-old child with multiple episodes of skin infection and failure to thrive

Question 5

A newborn is admitted for high-output cardiac failure after presenting with seizures. CT shows dilated lateral ventricles suggestive of hydrocephalus. What is the most probable diagnosis?

Accepted Answer

Vein of Galen Malformation

Answer

Cavernous Malformation

Answer

Moyamoya Disease

Answer

Central Venous angioma

Question 6

Which of the following is not used in the prophylaxis of febrile seizures?

Accepted Answer

Carbamazepine

Answer

Sodium valproate

Answer

Phenobarbitone

Answer

Diazepam

Question 7

A 1-day-old male baby delivered by LSCS has swelling over the back in the midline. Which of the following is the most likely cause?

Accepted Answer

Meningomyelocele

Answer

Spinal dysraphism

Answer

Lipomyelomeningocele

Answer

Dermoid cyst

Question 8

A patient presents with intractable convulsions, mental defect, and a facial nevus. What is the most likely diagnosis?

Accepted Answer

Sturge-Weber syndrome

Answer

Tuberous sclerosis

Answer

Von-Hippel-Lindau disease

Answer

Von Recklinghausen disease

Question 9

A 4-month-old child presents with excessive irritability and crying, unexplained hyperpyrexia, vomiting, and difficulty feeding for the last 15 days. On admission, the child has rigidity and visual inattentiveness. A CT scan of the brain shows specific findings. What is the probable diagnosis?

Accepted Answer

Krabbe disease

Answer

Alexander disease

Answer

Metachromatic leukodystrophy

Answer

Adrenoleukodystrophy

Question 10

What is the drug of choice for treating myoclonus in children?

Accepted Answer

Sodium Valproate

Answer

Clonazepam

Answer

Phenobarbitone

Answer

Ethosuximide

Neurology — MCQs

Neurology — MCQs

On this page

Practice by Chapter

Want unlimited practice?