Neurology Practice Questions

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).

Q: Hypsarrhythmia in a child is typically associated with which type of epilepsy?

Myoclonic epilepsy. **Explanation:** **Hypsarrhythmia** is the classic, pathognomonic EEG finding associated with **West Syndrome**, a specific type of epileptic encephalopathy. West Syndrome is characterized by a clinical triad: **infantile spasms** (a form of myoclonic epilepsy), hypsarrhythmia on EEG, and developmental regression. 1. **Why Myoclonic Epilepsy is Correct:** Infantile spasms are brief, axial muscle contractions (flexor, extensor, or mixed) that occur in clusters. These are classified under the broader umbrella of myoclonic/spasmodic seizures. The EEG shows **Hypsarrhythmia**, described as a "chaotic" pattern of high-voltage, polymorphic slow waves and spikes with a complete loss of rhythmic background activity. 2. **Why Other Options are Incorrect:** * **Grand mal (Generalized Tonic-Clonic):** Associated with generalized spikes and waves or polyspike-wave discharges, not hypsarrhythmia. * **Petit mal (Absence Seizures):** Characteristically shows a **3 Hz spike-and-wave** pattern on EEG. * **Reflex Epilepsy:** These are seizures triggered by specific sensory stimuli (e.g., flashing lights). The EEG pattern depends on the seizure type triggered, but it is not typically hypsarrhythmia. **High-Yield Clinical Pearls for NEET-PG:** * **West Syndrome Triad:** Infantile Spasms + Hypsarrhythmia + Mental Retardation. * **Age of Onset:** Typically between 4 to 8 months of age. * **Drug of Choice (DOC):** **ACTH** is the first-line treatment. However, if the cause is **Tuberous Sclerosis**, the DOC is **Vigabatrin**. * **Prognosis:** Generally poor; hypsarrhythmia usually disappears by age 2–5, but seizures often evolve into **Lennox-Gastaut Syndrome** (characterized by slow spike-wave activity, <2.5 Hz).

Q: What is the most probable cause of a large head in this child?

Hydrocephalus. ***Hydrocephalus*** - **Hydrocephalus** is the most common cause of **macrocephaly** in children, presenting with **bulging fontanelle**, **setting sun sign**, and **prominent scalp veins**. - Results from **cerebrospinal fluid accumulation** in the ventricles, causing progressive head enlargement and increased **intracranial pressure**. *Osteogenesis imperfecta* - Primarily a **connective tissue disorder** causing **bone fragility** and **blue sclerae**, not typically associated with significant head enlargement. - Head size abnormalities are uncommon and usually related to **skull deformities** rather than true macrocephaly. *Mucopolysaccharidosis* - Can cause **macrocephaly** but is less common than hydrocephalus and typically presents with **coarse facial features**, **hepatosplenomegaly**, and **developmental delays**. - The **lysosomal storage disorder** causes **GAG accumulation** leading to various organ involvement beyond just head enlargement. *Cerebral gigantism* - A rare cause of **macrocephaly** associated with **Sotos syndrome**, characterized by **accelerated growth** and **distinctive facial features**. - Less probable than hydrocephalus and typically presents with **tall stature** and **developmental delays** in addition to large head size.

Q: A child presents with unilateral facial pigmentation and a history of multiple seizures. Radiography of the skull revealed a specific finding. What is the most likely underlying diagnosis?

Sturge-Weber syndrome. **Explanation:** The clinical presentation of **unilateral facial pigmentation** (Port-wine stain) combined with **seizures** is the classic hallmark of **Sturge-Weber Syndrome (SWS)**, also known as encephalotrigeminal angiomatosis. **1. Why Sturge-Weber Syndrome is correct:** SWS is a neurocutaneous syndrome characterized by a capillary malformation (Port-wine stain) typically in the distribution of the ophthalmic (V1) and maxillary (V2) branches of the trigeminal nerve. The seizures result from underlying **leptomeningeal angiomas**, which cause cortical ischemia and atrophy. The "specific finding" on skull radiography mentioned is **"Tram-track" calcifications**, which represent gyriform calcifications of the cerebral cortex underlying the angioma. **2. Why other options are incorrect:** * **Cerebral Palsy:** This is a non-progressive motor impairment due to brain injury in the prenatal or perinatal period. While seizures can occur, it does not present with specific facial pigmentation or "tram-track" calcifications. * **Neurofibromatosis (Type 1):** While a neurocutaneous syndrome, its cutaneous markers are Café-au-lait spots and neurofibromas, not a unilateral port-wine stain. Radiographic findings typically include sphenoid wing dysplasia or optic gliomas. * **West Syndrome:** This is a triad of infantile spasms, hypsarrhythmia on EEG, and developmental regression. It is an age-specific epilepsy syndrome and not associated with facial vascular malformations. **Clinical Pearls for NEET-PG:** * **Triad of SWS:** Port-wine stain (Nevus Flammeus), Leptomeningeal angiomatosis, and Glaucoma. * **Radiology:** "Tram-track" calcification is best seen on **CT scan** (more sensitive than X-ray). * **Genetics:** Caused by a somatic mutation in the **GNAQ gene**. * **Management:** Aimed at seizure control and managing increased intraocular pressure (glaucoma).

Q: An 8-year-old child with a history of GTCS came with an episode of convulsions for more than 45 minutes. What will be the appropriate management for this patient?

Lorazepam followed by levetiracetam. ***Lorazepam followed by levetiracetam***- **Status epilepticus (SE)** is defined as a seizure lasting more than five minutes or recurrent seizures without regaining consciousness between them. The initial management involves the administration of a **benzodiazepine** (like lorazepam, midazolam, or diazepam) to rapidly terminate the seizure.- If the seizure persists after the benzodiazepine, the next step is to initiate a non-benzodiazepine antiseizure medication (ASM) like **levetiracetam**, **fosphenytoin**, or **valproate** to prevent seizure recurrence.*Valproate followed by gabapentin*- **Valproate** is a suitable second-line agent for SE, but it should not be the first drug; rapid control requires a **benzodiazepine**.- **Gabapentin** is typically not used in the management of acute SE because its onset of action is slow and it lacks efficacy for immediate seizure termination.*Carbamazepine followed by lorazepam*- **Carbamazepine** is a first-line agent for focal seizures but is generally avoided in generalized-onset seizures (like the **GTCS** history suggests) and is not used as a first-line drug for acute SE.- **Lorazepam** is the preferred first-line agent, and delaying it until after a non-benzodiazepine drug is inappropriate for acute SE management.*Levetiracetam followed by valproate*- **Levetiracetam** is an excellent second-line agent for SE but must be preceded by a **benzodiazepine** to rapidly terminate the ongoing seizure.- **Valproate** is also a suitable second-line agent, but the protocol requires immediate cessation of the seizure with a **benzodiazepine** before initiating an ASM like levetiracetam or valproate.

Q: The infant is being evaluated for recurrent episodes of seizures. EEG shows Hypsarrhythmia. Which drug is preferred for management?

ACTH. ***ACTH*** - The EEG pattern shown is **hypsarrhythmia**, which is a disorganized, high-amplitude, and chaotic pattern characteristic of **West syndrome** (infantile spasms). - **Adrenocorticotropic hormone (ACTH)** is a first-line therapy for infantile spasms, particularly in cases not associated with tuberous sclerosis, and is effective in stopping spasms and resolving the hypsarrhythmia pattern. *Vigabatrin* - **Vigabatrin** is also a first-line treatment for infantile spasms but is specifically the drug of choice if the underlying cause is **Tuberous Sclerosis Complex (TSC)**. - It carries a risk of causing irreversible **peripheral visual field defects**, which requires careful ophthalmologic monitoring. *Valproate* - **Valproate** is a broad-spectrum antiepileptic drug but is not a first-line treatment for infantile spasms. - Its use is limited in infants due to the significant risk of fatal **hepatotoxicity**, especially in children younger than two years old. *Carbamazepine* - **Carbamazepine** is typically used for focal seizures and is known to be ineffective or may even **worsen** infantile spasms and other generalized epilepsies. - It is not indicated for the treatment of West syndrome due to its potential to exacerbate the seizures.

Q: A neonate is found to have multiple hypopigmented macules and ash-leaf spots on Wood's lamp examination. Which of the following is the most likely diagnosis?

Tuberous Sclerosis. ***Tuberous Sclerosis*** - **Ash-leaf spots** (hypopigmented macules shaped like an ash leaf) are the most common cutaneous manifestation of **Tuberous Sclerosis Complex (TSC)** and are best visualized under a **Wood's lamp**. - TSC is an autosomal dominant neurocutaneous disorder characterized by hamartomatous lesions in multiple organs, including the brain (**subependymal giant cell astrocytomas**), kidneys (**angiomyolipomas**), and heart (**rhabdomyomas**). *Sturge-Weber Syndrome* - Characterized by a **port-wine stain** (capillary malformation) typically in the distribution of the ophthalmic branch of the **trigeminal nerve (V1)**. - Associated features include **leptomeningeal angioma** (causing seizures) and ocular abnormalities like **glaucoma**. *Neurofibromatosis Type 1* - The characteristic pigmented lesions are **café-au-lait spots** (uniform, light-brown macules), typically six or more, along with **axillary or inguinal freckling**. - Associated with **Lisch nodules** (iris hamartomas) and **neurofibromas**. *Incontinentia Pigmenti* - A rare X-linked dominant disorder, usually lethal in males, presenting with characteristic skin lesions in phases (vesicular, verrucous, hyperpigmented, and atrophic). - The hyperpigmented phase consists of swirling, marble-cake patterns of brown-gray macules along the **Blaschko lines**, not ash-leaf spots.

Question 1

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 2

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 3

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

Accepted Answer

Sodium Valproate

Answer

Clonazepam

Answer

Phenobarbitone

Answer

Ethosuximide

Question 4

Hypsarrhythmia in a child is typically associated with which type of epilepsy?

Accepted Answer

Myoclonic epilepsy

Answer

Grandmal epilepsy

Answer

Petitmal epilepsy

Answer

Reflex epilepsy

Question 5

What is the most probable cause of a large head in this child?

Accepted Answer

Hydrocephalus

Answer

Osteogenesis imperfecta

Answer

Mucopolysaccharidosis

Answer

Cerebral gigantism

Question 6

A child presents with unilateral facial pigmentation and a history of multiple seizures. Radiography of the skull revealed a specific finding. What is the most likely underlying diagnosis?

Accepted Answer

Sturge-Weber syndrome

Answer

Cerebral palsy

Answer

Neurofibromatosis

Answer

West syndrome

Question 7

All of the following predominantly involve the white matter EXCEPT?

Accepted Answer

Neuronal ceroid lipofuscinosis

Answer

Alexander disease

Answer

Canavan disease

Answer

Adrenoleukodystrophy

Question 8

An 8-year-old child with a history of GTCS came with an episode of convulsions for more than 45 minutes. What will be the appropriate management for this patient?

Accepted Answer

Lorazepam followed by levetiracetam

Answer

Levetiracetam followed by valproate

Answer

Valproate followed by gabapentin

Answer

Carbamazepine followed by lorazepam

Question 9

The infant is being evaluated for recurrent episodes of seizures. EEG shows Hypsarrhythmia. Which drug is preferred for management?

Accepted Answer

ACTH

Answer

Valproate

Answer

Vigabatrin

Answer

Carbamazepine

Question 10

A neonate is found to have multiple hypopigmented macules and ash-leaf spots on Wood's lamp examination. Which of the following is the most likely diagnosis?

Accepted Answer

Tuberous Sclerosis

Answer

Sturge-Weber Syndrome

Answer

Neurofibromatosis Type 1

Answer

Incontinentia Pigmenti

Neurology — MCQs

Neurology — MCQs

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