Neurology Practice Questions

Q: A 6-year-old boy presents with progressive muscle weakness, difficulty walking upstairs, and a waddling gait. Examination reveals a positive Gower's sign and calf muscle hypertrophy. His CPK level is 10,000 IU. What is the most probable diagnosis?

Duchenne Muscular dystrophy. ### Explanation **1. Why Duchenne Muscular Dystrophy (DMD) is correct:** The clinical presentation is classic for DMD, an X-linked recessive disorder caused by a mutation in the **dystrophin gene**. * **Age & Gender:** Typically presents in boys aged 3–5 years with progressive proximal muscle weakness. * **Gower’s Sign:** Use of hands to "climb up" the legs to stand, indicating pelvic girdle weakness. * **Pseudohypertrophy:** The calf muscles appear large but are actually replaced by fat and connective tissue. * **CPK Levels:** Extremely elevated Creatine Phosphokinase (often >10–50 times normal) is a hallmark of the massive muscle fiber necrosis seen in DMD. **2. Why the other options are incorrect:** * **Polymyositis:** An inflammatory myopathy that is rare in children. It usually presents with muscle pain and tenderness, which are absent here. * **Dermatomyositis:** Characterized by proximal weakness but must include cutaneous findings like **Gottron papules** or a **Heliotrope rash**. * **Congenital Myopathy:** These usually present at birth or in early infancy with hypotonia ("floppy infant") and are generally non-progressive or slowly progressive, unlike the rapid decline in DMD. **3. NEET-PG High-Yield Pearls:** * **Inheritance:** X-linked Recessive (Xp21). * **Gold Standard Diagnosis:** Genetic testing (MLPA) for dystrophin gene deletion. Muscle biopsy (showing absent dystrophin) is done if genetic testing is inconclusive. * **Becker Muscular Dystrophy (BMD):** A milder form where dystrophin is *abnormal/reduced* rather than *absent*. Onset is later (teens). * **Cause of Death:** Usually respiratory failure or dilated cardiomyopathy (DCM) in the late teens or early twenties. * **Treatment:** Glucocorticoids (Prednisone/Deflazacort) are the mainstay to improve strength and delay scoliosis.

Q: What is the most common type of cerebral palsy?

Spastic. **Explanation:** **Cerebral Palsy (CP)** is a non-progressive permanent disorder of movement and posture caused by an insult to the developing brain. **1. Why Spastic is Correct:** **Spastic CP** is the most common clinical type, accounting for approximately **70% to 80%** of all cases. It results from damage to the **upper motor neurons** (Pyramidal tract) in the motor cortex or corticospinal tracts. It is characterized by increased muscle tone (hypertonia), hyperreflexia, and a positive Babinski sign. The most common subtype within this category is Spastic Diplegia (often associated with prematurity and periventricular leukomalacia). **2. Why Other Options are Incorrect:** * **Atonic (Hypotonic):** This is a rare form characterized by generalized muscle flaccidity and diminished deep tendon reflexes. It is often a transitional phase before the development of spasticity or extrapyramidal features. * **Extrapyramidal (Dyskinetic):** This accounts for about 10–15% of cases. It involves damage to the **basal ganglia**. It presents as choreoathetosis or dystonia and is classically associated with severe neonatal jaundice (kernicterus) or profound perinatal asphyxia. * **Mixed:** This occurs when features of more than one type (e.g., spasticity and athetoid movements) are present. While common in severe cases, it is not the most frequent overall. **High-Yield Clinical Pearls for NEET-PG:** * **Most common cause:** Prematurity (leading to Periventricular Leukomalacia/PVL). * **Earliest sign:** Delayed motor milestones or "handedness" appearing before 1 year of age (suggests hemiplegia). * **Scissor Gait:** Classically seen in Spastic Diplegia due to adductor muscle spasticity. * **Diagnosis:** Primarily clinical; MRI is the preferred neuroimaging modality to identify the underlying brain insult.

Q: Which of the following epileptic syndromes has the worst prognosis?

Infantile spasm. **Explanation:** **Infantile Spasms (West Syndrome)** is associated with the worst prognosis among the options provided due to its strong association with significant neurodevelopmental regression and long-term cognitive impairment. It is characterized by the classic triad of infantile spasms, **hypsarrhythmia** on EEG, and developmental delay. Even with prompt treatment (using ACTH or Vigabatrin), many children progress to other refractory seizure types, such as Lennox-Gastaut Syndrome, and suffer from permanent intellectual disabilities. **Analysis of Incorrect Options:** * **Rolandic Epilepsy (Benign Rolandic Epilepsy):** As the name suggests, it is "benign" and has an excellent prognosis. It is age-dependent, typically occurring between 3–13 years, and almost always remits spontaneously by puberty without long-term deficits. * **Absence Epilepsy (Childhood Absence Epilepsy):** This generally has a good prognosis. Most children respond well to Ethosuximide or Valproate, and approximately 80% outgrow the seizures by adolescence without cognitive decline. * **Versive Epilepsy:** This refers to a focal seizure involving head and eye deviation. The prognosis depends entirely on the underlying structural lesion, but it is not inherently a "catastrophic" epileptic encephalopathy like Infantile Spasms. **NEET-PG High-Yield Pearls:** * **EEG Hallmark:** Hypsarrhythmia (high-voltage, chaotic, disorganized background). * **Drug of Choice (DOC):** **ACTH** is the overall DOC; however, **Vigabatrin** is the DOC if the spasms are associated with **Tuberous Sclerosis**. * **Age of Onset:** Typically between 4 to 8 months of age. * **Evolution:** Often evolves into **Lennox-Gastaut Syndrome** (characterized by slow spike-wave discharges <2.5 Hz and multiple seizure types).

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.

Question 1

A 6-year-old boy presents with progressive muscle weakness, difficulty walking upstairs, and a waddling gait. Examination reveals a positive Gower's sign and calf muscle hypertrophy. His CPK level is 10,000 IU. What is the most probable diagnosis?

Accepted Answer

Duchenne Muscular dystrophy

Answer

Polymyositis

Answer

Dermatomyositis

Answer

Congenital myopathy

Question 2

What is the most common type of cerebral palsy?

Accepted Answer

Spastic

Answer

Atonic

Answer

Extrapyramidal

Answer

Mixed

Question 3

Which of the following epileptic syndromes has the worst prognosis?

Accepted Answer

Infantile spasm

Answer

Rolandic epilepsy

Answer

Versive epilepsy

Answer

Absence epilepsy

Question 4

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 5

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 6

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 7

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 8

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 9

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 10

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

Neurology — MCQs

Neurology — MCQs

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