Neurology Practice Questions

Q: A 15-year-old boy complains of jerky movements that are precipitated upon awakening in the morning. There is no history of loss of consciousness. EEG showed a 4-6 Hz spike and wave pattern. What is the child suffering from?

Juvenile Myoclonic Epilepsy. ### Explanation **Correct Answer: B. Juvenile Myoclonic Epilepsy (JME)** The clinical presentation is classic for **Juvenile Myoclonic Epilepsy (JME)**, also known as Janz syndrome. The key diagnostic features in this case are: 1. **Age of onset:** Typically occurs between 12–18 years. 2. **Seizure type:** Myoclonic jerks (sudden, brief, involuntary muscle contractions) without loss of consciousness. 3. **Circadian rhythm:** Characteristically occurs shortly **after awakening** (often exacerbated by sleep deprivation). 4. **EEG findings:** Shows generalized, symmetric **4–6 Hz polyspike-and-slow-wave** discharges. --- ### Why the other options are incorrect: * **A. Lennox-Gastaut Syndrome:** This is a severe childhood epilepsy (onset 3–5 years) characterized by a triad of multiple seizure types (atonic, tonic), intellectual disability, and a slow EEG pattern (**<2.5 Hz spike-and-wave**). * **C. Rolandic Epilepsy (Benign Childhood Epilepsy with Centrotemporal Spikes):** This presents in younger children (5–10 years) with nocturnal or early morning focal seizures involving the face and oropharynx (drooling, speech arrest). EEG shows **centrotemporal spikes**. * **D. West Syndrome:** This occurs in infants (3–12 months) and is characterized by infantile spasms, developmental arrest, and an EEG pattern of **hypsarrhythmia**. --- ### NEET-PG High-Yield Pearls: * **Drug of Choice (DOC):** Valproate is the DOC for JME. In females of childbearing age, Levetiracetam is preferred due to the teratogenicity of Valproate. * **Prognosis:** JME usually requires **lifelong treatment**; relapse rates are high (>90%) if medication is discontinued. * **Triggers:** Sleep deprivation, alcohol consumption, and flickering lights (photosensitivity) are common precipitants.

Q: Which of the following is NOT a common feature of Duchenne muscular dystrophy?

Distal muscle involvement. **Explanation:** Duchenne Muscular Dystrophy (DMD) is the most common and severe form of muscular dystrophy. The hallmark of DMD is **progressive proximal muscle weakness**, not distal. **1. Why "Distal muscle involvement" is the correct answer:** DMD primarily affects the **proximal muscles** of the pelvic girdle followed by the shoulder girdle. Weakness typically begins in the hip extensors and quadriceps. Distal muscles (like those of the hands and feet) are usually spared until the very late stages of the disease. Therefore, distal involvement is NOT a common or early feature. **2. Analysis of incorrect options:** * **X-linked recessive inheritance:** DMD is caused by a mutation in the *DMD* gene on the X chromosome (Xp21), which encodes the protein **dystrophin**. It primarily affects males. * **Gower sign positive:** Due to weak hip extensors and quadriceps, children must use their hands to "climb up" their own legs to reach a standing position. This is a classic clinical sign of DMD. * **Calf pseudohypertrophy:** This is a characteristic finding where the calves appear enlarged. However, this is not due to muscle bulk but rather the replacement of muscle tissue with **fat and connective tissue** (fibrosis). **High-Yield Clinical Pearls for NEET-PG:** * **Age of onset:** Typically 3–5 years; wheelchair dependency by age 12. * **Lab findings:** Markedly elevated **Serum Creatine Kinase (CK)** levels (often 10–100x normal). * **Cardiac involvement:** Dilated cardiomyopathy is a common cause of mortality. * **Diagnosis:** Genetic testing (MLPA) is the gold standard; muscle biopsy shows absent dystrophin staining. * **Becker Muscular Dystrophy (BMD):** A milder form where dystrophin is truncated/reduced rather than completely absent.

Q: Which of the following statements is true regarding Duchenne muscular dystrophy?

There is a universal increase in creatine kinase.. **Explanation:** **Duchenne Muscular Dystrophy (DMD)** is the most common and severe form of muscular dystrophy, caused by a mutation in the *DMD* gene on the X chromosome, leading to a complete absence of the protein **dystrophin**. 1. **Why Option C is Correct:** Dystrophin acts as a mechanical stabilizer for the sarcolemma (muscle cell membrane). Its absence leads to membrane instability, resulting in chronic muscle fiber necrosis and leakage of intracellular enzymes into the blood. Consequently, **Serum Creatine Kinase (CK)** levels are universally elevated (often 50–100 times the upper limit of normal) from birth, even before clinical symptoms appear. 2. **Why Other Options are Incorrect:** * **Option A:** DMD follows an **X-linked recessive** inheritance pattern, not autosomal dominant. It primarily affects males. * **Option B:** The onset is typically in **early childhood (3–5 years)**. Patients usually present with frequent falls, difficulty climbing stairs, and a positive Gower’s sign. Onset in the second decade is characteristic of *Becker Muscular Dystrophy*, which is a milder form. * **Option D:** Cardiac involvement is nearly universal. Absence of dystrophin leads to **Dilated Cardiomyopathy** and arrhythmias, which are major causes of mortality. **High-Yield Clinical Pearls for NEET-PG:** * **Gower’s Sign:** Use of hands to "climb up" one's own body to stand from a supine position due to proximal muscle weakness. * **Pseudohypertrophy:** The calves appear large but are actually composed of fat and connective tissue (fibrosis) replacing lost muscle. * **Diagnosis:** Gold standard is **Genetic Testing** (Multiplex PCR for deletions). Muscle biopsy shows absent dystrophin staining. * **Treatment:** Glucocorticoids (e.g., Prednisolone/Deflazacort) are the mainstay to prolong ambulation and respiratory function.

Q: Which of the following is NOT typically seen in metachromatic leukodystrophy?

Exaggerated tendon reflexes. **Explanation:** Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme **Arylsulfatase A**. This leads to the accumulation of sulfatides, which are toxic to the myelin-producing cells of both the **Central Nervous System (CNS)** and the **Peripheral Nervous System (PNS)**. **Why "Exaggerated tendon reflexes" is the correct answer:** In MLD, there is significant peripheral nerve involvement (demyelinating polyneuropathy). In any neurological condition where the peripheral nerves are affected, the deep tendon reflexes are typically **diminished or absent (hyporeflexia/areflexia)**. Therefore, exaggerated reflexes (hyperreflexia), which indicate an isolated Upper Motor Neuron (UMN) lesion, are not typically seen in MLD. **Analysis of Incorrect Options:** * **Mental retardation:** As a leukodystrophy, MLD causes progressive white matter destruction leading to cognitive decline, loss of speech, and intellectual disability. * **Optic atrophy:** Demyelination of the optic nerve is a common feature in the later stages of the disease, leading to visual loss. * **Decerebrate posture:** As the disease progresses to advanced stages, extensive cortical and subcortical destruction leads to motor posturing, including decerebrate (extensor) rigidity. **NEET-PG High-Yield Pearls for MLD:** * **Enzyme Deficiency:** Arylsulfatase A. * **Accumulated Substance:** Cerebroside sulfate (sulfatide). * **Diagnosis:** Gold standard is measuring enzyme activity in leukocytes; MRI shows "tigroid" pattern of demyelination. * **Histology:** Sural nerve biopsy shows metachromasia (nerves stain brown/purple with toluidine blue). * **Clinical Triad:** Progressive motor symptoms + Cognitive decline + Peripheral neuropathy (absent reflexes).

Q: A 7-day-old neonate presents with recurrent seizures. On examination, tachycardia and S3 gallop are noted, along with a bruit in the anterior fontanelle. Blood investigations are normal. Neurosonogram shows a hypoechoic lesion. What is the diagnosis?

Vein of Galen malformation. **Explanation:** The clinical presentation of a neonate with seizures, high-output heart failure (tachycardia, S3 gallop), and a cranial bruit is classic for a **Vein of Galen Malformation (VGAM)**. **Why the correct answer is right:** VGAM is an arteriovenous malformation where cerebral arteries drain directly into an embryonic precursor of the Vein of Galen. This creates a massive **left-to-right shunt**, leading to high-output cardiac failure (the most common presentation in neonates). The rapid blood flow creates a **bruit** audible over the anterior fontanelle. On neurosonogram, it appears as a midline **hypoechoic/anechoic cystic mass** posterior to the third ventricle, which shows turbulent flow on Doppler. **Why the incorrect options are wrong:** * **Arachnoid cyst:** While hypoechoic on ultrasound, these are static fluid collections that do not cause heart failure or bruits. * **Dilated ventricles (Hydrocephalus):** Though VGAM can cause secondary hydrocephalus (due to venous hypertension or aqueductal compression), hydrocephalus alone does not explain the S3 gallop or cranial bruit. * **Intraventricular hemorrhage (IVH):** Typically presents in preterm neonates with a drop in hematocrit and bulging fontanelle; it does not cause high-output heart failure or a bruit. **High-Yield Pearls for NEET-PG:** * **Triad of VGAM:** High-output heart failure + Cranial bruit + Hydrocephalus. * **Best Initial Investigation:** Neurosonogram with Color Doppler. * **Gold Standard Investigation:** Digital Subtraction Angiography (DSA). * **Management:** Endovascular embolization (usually delayed until 5–6 months of age if the child is stable). * **Differential:** Always consider VGAM in a neonate with unexplained heart failure and a normal structurally intact heart.

Q: Which of the following is NOT a sign of raised intracranial pressure in a 7-month-old infant?

Papilledema. In infants, the clinical presentation of raised intracranial pressure (ICP) differs significantly from that of older children and adults due to the presence of open cranial sutures and a patent anterior fontanelle. **Why Papilledema is the Correct Answer:** Papilledema (swelling of the optic disc) is rarely seen in infants under the age of 1 year, even with significantly raised ICP. This is because the **open sutures and fontanelles** act as a "safety valve," allowing the skull to expand and accommodate the increased pressure. This decompression prevents the pressure from being transmitted directly to the optic nerve sheath. Therefore, the absence of papilledema does **not** rule out raised ICP in an infant. **Explanation of Incorrect Options:** * **Bulging Fontanelle:** This is the most reliable clinical sign of raised ICP in an infant. When the intracranial volume increases, the non-ossified anterior fontanelle becomes tense and protrudes. * **Increase in Head Size:** Since the cranial sutures are not yet fused, increased pressure leads to "macrocephaly" or a rapid increase in head circumference (crossing percentiles on a growth chart) as the bones are pushed apart. * **Increasing Irritability:** This is a common non-specific behavioral sign of raised ICP. It may be accompanied by a high-pitched cry, poor feeding, or projectile vomiting. **NEET-PG High-Yield Pearls:** * **Macewen’s Sign (Cracked-pot sign):** Percussion of the skull in an infant with raised ICP/hydrocephalus yields a resonant sound due to separated sutures. * **Sunset Sign:** Downward deviation of the eyes (sclera visible above the iris) is a late sign of raised ICP in infants. * **Cushing’s Triad:** Hypertension, bradycardia, and irregular respirations (a late sign of impending herniation).

Question 1

In pediatric patients, what factor significantly increases the risk of developing post-traumatic epilepsy?

Accepted Answer

Acute intracranial hemorrhage

Answer

Brief loss of consciousness

Answer

Retrograde amnesia

Answer

Post-traumatic vomiting

Question 2

A 15-year-old boy complains of jerky movements that are precipitated upon awakening in the morning. There is no history of loss of consciousness. EEG showed a 4-6 Hz spike and wave pattern. What is the child suffering from?

Accepted Answer

Juvenile Myoclonic Epilepsy

Answer

Lennox-Gastaut syndrome

Answer

Rolandic epilepsy

Answer

West syndrome

Question 3

Which of the following is NOT a common feature of Duchenne muscular dystrophy?

Accepted Answer

Distal muscle involvement

Answer

X-linked recessive inheritance

Answer

Gower sign positive

Answer

Calf pseudohypertrophy

Question 4

A 9-month-old previously healthy infant presented with a 12-hour history of fever, rhinorrhea, and a single episode of generalized tonic-clonic seizure lasting 34 minutes. The infant was brought to the emergency department within 1 hour and was observed to be alert, active, and playful after the fever subsided. What is the most probable diagnosis in this infant?

Accepted Answer

Febrile convulsions

Answer

Transient myoclonic epilepsy

Answer

Hypocalcemia

Answer

Hypernatremia

Question 5

Which of the following statements is true regarding Duchenne muscular dystrophy?

Accepted Answer

There is a universal increase in creatine kinase.

Answer

It is autosomal dominant.

Answer

It has an onset in the second decade of life.

Answer

Cardiac muscle fibers are normal.

Question 6

Which of the following is NOT typically seen in metachromatic leukodystrophy?

Accepted Answer

Exaggerated tendon reflexes

Answer

Mental retardation

Answer

Optic atrophy

Answer

Decerebrate posture

Question 7

A 7-day-old neonate presents with recurrent seizures. On examination, tachycardia and S3 gallop are noted, along with a bruit in the anterior fontanelle. Blood investigations are normal. Neurosonogram shows a hypoechoic lesion. What is the diagnosis?

Accepted Answer

Vein of Galen malformation

Answer

Arachnoid cyst

Answer

Dilated ventricles

Answer

Intraventricular hemorrhage

Question 8

Which of the following is NOT a sign of raised intracranial pressure in a 7-month-old infant?

Accepted Answer

Papilledema

Answer

Bulging fontanelle

Answer

Increase in head size

Answer

Increasing irritability

Question 9

A 1-week-old infant is noted to be at the seventy-fifth percentile for size and head circumference. One month later, the infant is still at the seventy-fifth percentile for size, but the head circumference has increased to the ninety-fifth percentile. The infant's anterior fontanelle is tense, and the skull sutures are open. An MRI of the brain with intravenous contrast shows greatly dilated lateral and third ventricles, an aqueduct of Sylvius that cannot be easily visualized, and a small fourth ventricle. There are no lesions within the subarachnoid space or cerebral parenchyma. What is the most likely diagnosis?

Accepted Answer

Noncommunicating hydrocephalus

Answer

Communicating hydrocephalus

Answer

Normal-pressure hydrocephalus

Answer

Arnold-Chiari malformation with herniation of the cerebellum into the foramen magnum

Question 10

A 7-year-old boy has progressive difficulty in climbing stairs, walks with a waddling gait, and also has calf muscle hypertrophy. What is the most likely diagnosis?

Accepted Answer

Becker's Muscular Dystrophy

Answer

Duchenne Muscular Dystrophy (DMD)

Answer

Myositis

Answer

Dermatomyositis

Neurology — MCQs

Neurology — MCQs

On this page

Practice by Chapter

Want unlimited practice?