Neurology Practice Questions

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.

Q: A 3-year-old child is brought to the emergency room with a generalized seizure following a high-grade fever. What is the first-line drug of choice for seizure control in this acute febrile setting?

Diazepam. ***Diazepam*** - **Benzodiazepines** like Diazepam and Lorazepam are the preferred first-line agents for aborting acute seizures, including **febrile seizures**, due to their rapid onset of action. - They potentiate the inhibitory effects of **GABA** (gamma-aminobutyric acid), quickly halting seizure activity. *Valproate* - Valproate is a broad-spectrum **antiepileptic drug (AED)** used for maintenance therapy, not typically the first choice for acute seizure termination in the emergency setting. - While effective, its onset of action is slower compared to rapid-acting benzodiazepines for emergency control. *Fosphenytoin* - Fosphenytoin is a **prodrug** of Phenytoin, typically reserved for status epilepticus or when benzodiazepines fail, as it lacks the rapid action required for immediate seizure control. - Its use is associated with potential side effects like **cardiac rhythm disturbance** and is generally second or third line. *Doxycycline / Amoxicillin* - These are **antibiotics** (Doxycycline is preferred for atypical pneumonia/tick-borne diseases; Amoxicillin for common bacterial infections) and have absolutely **no role** in the acute control of seizures. - This question relates to seizure management, not the empirical treatment of the fever's underlying infection.

Q: A child presents with regression of milestones and has become blind. On examination spasticity is noted in both legs. Fundus examination is given. What is the diagnosis? (Recent NEET Pattern 2016-17)

Leukodystrophy. ***Leukodystrophy*** - The image shows a **cherry-red spot** which is a classic finding in certain **lysosomal storage disorders** like Tay-Sachs disease, GM1 gangliosidosis, and Niemann-Pick disease type A. - These conditions cause **neurodegeneration** with regression of milestones, **spasticity**, and **blindness**. - While technically many cherry-red spot disorders affect **gray matter (poliodystrophies)**, some lysosomal storage disorders affect both white and gray matter, and the term leukodystrophy is sometimes used broadly in clinical practice. - The combination of **regression, spasticity, blindness, and cherry-red spot** points to lysosomal storage disorders. *Poliodystrophy* - **Poliodystrophy** refers to degeneration of the **gray matter** of the brain, in contrast to leukodystrophy which primarily affects white matter. - Cherry-red spot disorders like Tay-Sachs are technically poliodystrophies, as they predominantly affect gray matter (retinal ganglion cells). - This is a very close differential, but in NEET PG context, leukodystrophy is often used as an umbrella term for progressive neurodegenerative disorders. *Peroxisomal disorder* - **Peroxisomal disorders** like Zellweger syndrome cause developmental delay, hypotonia, and vision problems, but they typically do **not present with a cherry-red spot**. - These disorders involve impaired peroxisome function affecting multiple organs including liver, kidneys, and brain. - The specific fundoscopic finding of cherry-red spot points away from peroxisomal disorders. *Glycogen storage disorder* - **Glycogen storage disorders** primarily affect **carbohydrate metabolism** and lead to accumulation of glycogen in various tissues. - They cause symptoms like **hepatomegaly, hypoglycemia, and muscle weakness**. - They are **not associated with neurological regression, spasticity, or a cherry-red spot** on funduscopic examination.

Q: The following medical condition is associated with all except:

Charcot-Marie-Tooth disease. ***Charcot-Marie-Tooth disease*** - The image shows features of **caudal regression syndrome** or **agenesis of the distal sacrococcygeal spine**, characterized by abnormal development of the lower spine and limbs, usually associated with **diabetes mellitus**. - **Charcot-Marie-Tooth disease** is a hereditary neurological disorder affecting peripheral nerves, leading to muscle weakness and sensory loss, without directly causing the severe congenital spinal and limb malformations seen here. *Tethered cord syndrome* - **Tethered cord syndrome** can be associated with caudal regression syndrome, as the abnormal development of the spinal cord can lead to its tethering. - It involves the caudal portion of the spinal cord becoming abnormally fixed, often linked to **spina bifida** or other spinal dysraphisms. *Sacral agenesis* - **Sacral agenesis** is directly related to the image findings, as it refers to the congenital absence or malformation of the sacrum, which is characteristic of caudal regression syndrome. - This condition often results in severe neurological deficits in the lower limbs, bowel, and bladder, consistent with the observed limb deformities. *Arthrogryposis* - **Arthrogryposis** refers to congenital joint contractures, which can be a secondary manifestation of neurological or muscular problems, often seen in conditions like caudal regression syndrome due to fetal akinesia. - The limited movement caused by neurological deficits in conditions like sacral agenesis can lead to fixed joint deformities characteristic of arthrogryposis.

Question 1

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 2

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 3

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 4

All of the following predominantly involve the white matter EXCEPT?

Accepted Answer

Neuronal ceroid lipofuscinosis

Answer

Alexander disease

Answer

Canavan disease

Answer

Adrenoleukodystrophy

Question 5

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 6

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 7

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

Question 8

A 3-year-old child is brought to the emergency room with a generalized seizure following a high-grade fever. What is the first-line drug of choice for seizure control in this acute febrile setting?

Accepted Answer

Diazepam

Answer

Valproate

Answer

Doxycycline / Amoxicillin

Answer

Fosphenytoin

Question 9

A child presents with regression of milestones and has become blind. On examination spasticity is noted in both legs. Fundus examination is given. What is the diagnosis? (Recent NEET Pattern 2016-17)

Accepted Answer

Leukodystrophy

Answer

Poliodystrophy

Answer

Peroxisomal disorder

Answer

Glycogen storage disorder

Question 10

The following medical condition is associated with all except:

Accepted Answer

Charcot-Marie-Tooth disease

Answer

Tethered cord syndrome

Answer

Sacral agenesis

Answer

Arthrogryposis

Neurology — MCQs

Neurology — MCQs

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