Neurology Practice Questions

Q: Agenesis of corpus callosum with retinal colobomas and intellectual disability is seen in which condition?

Aicardi syndrome. **Explanation:** **Aicardi Syndrome** is a rare genetic disorder characterized by a classic clinical triad: 1. **Agenesis of the Corpus Callosum** (complete or partial) 2. **Chorioretinal Lacunae** (pathognomonic "punched-out" lesions of the retina/retinal colobomas) 3. **Infantile Spasms** (seizures) It is an **X-linked dominant** condition that is typically **lethal in males**; therefore, it is seen almost exclusively in females. Patients also present with significant intellectual disability and costovertebral defects (e.g., hemivertebrae). **Analysis of Incorrect Options:** * **Alagille Syndrome:** An autosomal dominant disorder caused by *JAG1* mutations. It is characterized by **paucity of interlobular bile ducts** (cholestasis), butterfly vertebrae, peripheral pulmonary artery stenosis, and posterior embryotoxon in the eye. * **Ape Syndrome (Apert Syndrome):** A craniosynostosis syndrome characterized by **mitten-hand syndactyly** (fusion of fingers/toes) and midface hypoplasia. While it may involve CNS anomalies, it lacks the specific retinal lacunae of Aicardi. * **Ataxia Telangiectasia:** An autosomal recessive DNA-repair defect characterized by cerebellar ataxia, **oculocutaneous telangiectasia**, and immunodeficiency. It does not feature agenesis of the corpus callosum. **High-Yield Clinical Pearls for NEET-PG:** * **Aicardi Triad:** Agenesis of corpus callosum + Chorioretinal lacunae + Infantile spasms. * **Genetics:** X-linked Dominant (Male lethal). * **EEG Finding:** Often shows "split-brain" hypsarrhythmia (asynchrony between hemispheres due to lack of corpus callosum). * **Imaging:** MRI is the gold standard to visualize the absent corpus callosum and associated "probst bundles."

Q: A boy presents with weakness in the lower limbs, calf hypertrophy, a positive Gower's sign, and an elevated CPK value of 10,000. What is the most likely diagnosis?

Duchenne Muscular Dystrophy. **Explanation:** The clinical presentation is a classic description of **Duchenne Muscular Dystrophy (DMD)**, an X-linked recessive disorder caused by a mutation in the *Dystrophin* gene. 1. **Why Duchenne Muscular Dystrophy is correct:** * **Calf Hypertrophy:** This is "pseudohypertrophy" where muscle tissue is replaced by fat and connective tissue. * **Gower’s Sign:** Due to proximal muscle weakness (pelvic girdle), the child uses his hands to "climb up" his own body to stand from a sitting position. * **CPK Levels:** Markedly elevated Creatine Phosphokinase (CPK) levels (often >10–50 times the normal limit) are a hallmark of DMD due to ongoing muscle fiber necrosis. 2. **Why other options are incorrect:** * **Spinal Muscular Atrophy (SMA):** This is a lower motor neuron (LMN) disease involving the anterior horn cells. While it presents with weakness, it features **hypotonia, areflexia, and tongue fasciculations** without calf hypertrophy or significantly high CPK. * **Myotonia Congenita:** Characterized by delayed muscle relaxation (myotonia) after contraction (e.g., difficulty releasing a grip), but it does not typically present with progressive weakness or massive CPK elevation. * **Myotonic Dystrophy:** Usually presents in late childhood or adulthood with distal weakness, "hatchet facies," and myotonia. CPK levels are only mildly elevated. **High-Yield Clinical Pearls for NEET-PG:** * **Inheritance:** X-linked Recessive (XLR). * **Diagnosis:** Gold standard is **Genetic testing** (multiplex PCR for deletions); Muscle biopsy shows absent Dystrophin. * **Age of onset:** Usually 3–5 years; non-ambulatory by age 12. * **Common cause of death:** Respiratory failure or Dilated Cardiomyopathy. * **Becker Muscular Dystrophy:** A milder variant where dystrophin is reduced/abnormal rather than absent.

Q: A CT scan of a child presenting with CNS pathology reveals a subdural effusion. Which of the following conditions commonly leads to subdural effusion in children?

Bacterial meningitis. **Explanation:** **Subdural effusion** is a common complication of **Bacterial Meningitis** in infants and young children, occurring in approximately 10–30% of cases. It is characterized by an accumulation of sterile, proteinaceous fluid in the subdural space. The underlying mechanism involves increased permeability of the meningeal vessels due to intense inflammation, leading to fluid leakage. It is most frequently associated with *Haemophilus influenzae* type b (Hib) and *Streptococcus pneumoniae*. Clinically, it should be suspected if a child with meningitis fails to improve after 48–72 hours of appropriate antibiotics or develops a bulging fontanelle and enlarging head circumference. **Analysis of Incorrect Options:** * **A. Tuberculous Meningitis:** Typically presents with basal exudates, hydrocephalus, and infarcts rather than subdural effusions. * **B. Trauma:** While trauma can cause subdural *hematomas* (blood), it is not the primary cause of the sterile *effusions* typically discussed in pediatric CNS infections. * **D. Viral Encephalitis:** Primarily affects the brain parenchyma. It does not typically involve the significant meningeal inflammation required to produce a subdural effusion. **NEET-PG High-Yield Pearls:** * **Most common organism:** Historically *H. influenzae* type b; currently *S. pneumoniae* (post-vaccination era). * **Diagnosis:** Transillumination of the skull (in infants) or CT/MRI showing crescentic fluid collections. * **Management:** Most effusions are asymptomatic and resolve spontaneously. Surgical drainage is indicated only if there are signs of increased intracranial pressure (e.g., seizures, persistent vomiting, or focal neurological deficits). * **Distinction:** If the fluid becomes infected, it is termed a **subdural empyema**.

Q: Comment on the diagnosis of a 1-year-old child?

Hydrocephalus. ***Hydrocephalus*** - **Macrocephaly** with **bulging fontanelle** and **prominent scalp veins** are classic signs of increased intracranial pressure from CSF accumulation. - The **sunset sign** (downward gaze deviation) is pathognomonic for hydrocephalus due to pressure on the tectal plate. *Hydranencephaly* - Characterized by **absent cerebral cortex** replaced by CSF-filled sacs, which would show **positive transillumination**. - Unlike hydrocephalus, the **skull structure** is typically normal-sized, and there's **profound neurological impairment** from birth. *Lissencephaly* - Features a **smooth brain surface** without normal gyri and sulci, causing severe **developmental delays** and **seizures**. - Does **not cause macrocephaly** or increased intracranial pressure signs like bulging fontanelle. *Encephalocele* - Presents with **visible herniation** of brain tissue through a **skull defect**, typically occipital or frontal. - Would show a **palpable mass** or **sac-like protrusion** from the skull, not the generalized head enlargement seen here.

Q: Regarding Dandy-Walker syndrome, which of the following statements are true and which are false? 1. It is the most common posterior fossa malformation. 2. It consists of a cystic expansion of the 4th ventricle in the posterior fossa and midline cerebellar hypoplasia. 3. The classic triad includes hypoplasia of the vermis, cephalad rotation of the vermian remnant, and cystic dilatation of the 4th ventricle extending posteriorly with a small posterior fossa. 4. The most common manifestation is macrocephaly. 5. Management involves shunting the cystic cavity.

1-True, 2-True, 3-False, 4-True, 5-True. **Dandy-Walker Malformation (DWM)** is the most common congenital malformation of the posterior fossa. It results from the developmental failure of the roof of the fourth ventricle. ### **Analysis of Statements:** 1. **True:** It is indeed the most common posterior fossa malformation. 2. **True:** The core pathology involves a cystic expansion of the 4th ventricle and varying degrees of cerebellar vermis hypoplasia. 3. **False:** While the triad includes vermian hypoplasia/rotation and cystic 4th ventricle dilatation, the **posterior fossa is characteristically ENLARGED**, not small. The tentorium and transverse sinuses are displaced superiorly (torcular-herophili inversion). 4. **True:** Macrocephaly is the most common clinical presentation (found in ~80% of cases), often accompanied by signs of increased intracranial pressure due to associated hydrocephalus. 5. **True:** Management focuses on treating hydrocephalus, typically via a **cystoperitoneal shunt** or ventriculoperitoneal shunt. ### **Why Option B is Correct:** Option B correctly identifies that Statement 3 is false because DWM is defined by an **enlarged posterior fossa**. A small posterior fossa is a hallmark of Chiari II malformation, not Dandy-Walker. ### **High-Yield Clinical Pearls for NEET-PG:** * **Classic Triad:** 1. Agenesis/Hypoplasia of cerebellar vermis; 2. Cystic dilatation of the 4th ventricle; 3. Enlarged posterior fossa. * **Associated Findings:** Hydrocephalus (present in 90%), Agenesis of Corpus Callosum (20-25%), and intellectual disability. * **Radiology Sign:** "Torcular-lambdoid inversion" (the torcular herophili lies above the lambdoid suture on X-ray/CT). * **Differential:** **Blake’s Pouch Cyst** (normal vermis, non-communicating) and **Mega Cisterna Magna** (normal vermis and 4th ventricle).

Q: Which of the following is NOT typically found in cerebral palsy?

Microcephaly. **Explanation:** Cerebral Palsy (CP) is a non-progressive permanent disorder of movement and posture caused by an insult to the developing fetal or infant brain. **Why Microcephaly is the correct answer:** While microcephaly is a common **associated finding** in children with CP (due to underlying brain malformation or injury), it is not a **defining motor feature** of the condition itself. In the context of this question, the other options represent specific motor types or manifestations of CP. Furthermore, many children with CP have normal head circumferences, making microcephaly a frequent comorbidity rather than a diagnostic requirement or a "typical" finding in the same category as motor tone abnormalities. **Analysis of Incorrect Options:** * **Hypotonicity (A):** This is common in the early stages of CP (the "hypotonic phase") before spasticity develops, and is the hallmark of **Atonic CP**. * **Ataxia (C):** This is a recognized clinical subtype (**Ataxic CP**), usually resulting from cerebellar injury, characterized by loss of coordination and balance. * **Flaccid paralysis (D):** While CP is primarily an Upper Motor Neuron (UMN) lesion (leading to spasticity), severe "floppy" infants can present with flaccid-like weakness. However, it is important to note that if the question implies "pure" Lower Motor Neuron (LMN) paralysis, it wouldn't be CP; but in many exams, "flaccid" is used interchangeably with the initial hypotonic phase of CP. **High-Yield Clinical Pearls for NEET-PG:** * **Most common type:** Spastic CP (specifically Spastic Diplegia, often associated with Periventricular Leukomalacia in preterms). * **Most common cause:** Prematurity (not birth asphyxia, which accounts for only ~10%). * **Early Sign:** Hand preference before age 1 year. * **Diagnosis:** Primarily clinical; MRI is the preferred imaging to identify the timing and extent of the brain insult.

Q: What is the drug of choice for infantile spasms in a child with Tuberous sclerosis?

Vigabatrin. **Explanation:** **Infantile Spasms (West Syndrome)** is characterized by the triad of infantile spasms, hypsarrhythmia on EEG, and developmental regression. While the standard first-line treatment for idiopathic cases is **ACTH**, the management changes significantly when the underlying etiology is **Tuberous Sclerosis Complex (TSC)**. **Why Vigabatrin is the Correct Answer:** In children with Tuberous Sclerosis, **Vigabatrin** is the drug of choice (DOC). It is an irreversible inhibitor of GABA-transaminase, increasing GABA levels in the brain. It has shown superior efficacy specifically in TSC-associated spasms, often achieving complete cessation of seizures. **Analysis of Incorrect Options:** * **ACTH (Adrenocorticotropic Hormone):** This is the drug of choice for infantile spasms **not** associated with Tuberous Sclerosis. In TSC patients, Vigabatrin is preferred due to higher specific response rates. * **Diazepam:** While a benzodiazepine used for status epilepticus, it has no role as a primary maintenance therapy for infantile spasms. * **Levetiracetam:** This is a broad-spectrum anticonvulsant used for focal or generalized tonic-clonic seizures, but it is not effective for the specific pathophysiology of hypsarrhythmia in West Syndrome. **High-Yield Clinical Pearls for NEET-PG:** * **Side Effect Alert:** The most significant side effect of Vigabatrin is **permanent peripheral visual field defects** (concentric visual field contraction). Regular ophthalmological monitoring is mandatory. * **TSC Triad (Vogt’s Triad):** Adenoma sebaceum (facial angiofibromas), mental retardation, and seizures. * **EEG Finding:** The classic EEG pattern for West Syndrome is **Hypsarrhythmia** (high-amplitude, disorganized, chaotic background). * **Summary:** * Infantile Spasms (General) → **ACTH** * Infantile Spasms (with Tuberous Sclerosis) → **Vigabatrin**

Q: An infant of 5 months presents with sudden dropping of head and flexion of arms. On examination, the infant has a hypopigmented macule on the trunk. What is the drug of choice for this condition?

Vigabatrin. ### Explanation **Diagnosis: West Syndrome (Infantile Spasms) secondary to Tuberous Sclerosis Complex (TSC).** The clinical triad of **infantile spasms** (sudden head dropping and arm flexion), **hypsarrhythmia** on EEG (though not mentioned, it is characteristic), and **mental retardation** defines West Syndrome. The presence of a **hypopigmented macule** (Ash-leaf spot) is a pathognomonic sign of Tuberous Sclerosis, which is the most common identifiable cause of West Syndrome. **1. Why Vigabatrin is the Correct Answer:** While ACTH is generally the first-line treatment for idiopathic West Syndrome, **Vigabatrin** is the specific **drug of choice** when the condition is associated with **Tuberous Sclerosis**. It acts by irreversibly inhibiting GABA transaminase, increasing GABA levels in the brain. It has shown superior efficacy in controlling spasms specifically in TSC patients. **2. Why Other Options are Incorrect:** * **ACTH:** This is the drug of choice for West Syndrome *not* associated with Tuberous Sclerosis. In this specific clinical vignette, the Ash-leaf spot makes Vigabatrin the preferred answer. * **Sodium Valproate:** Used as a second-line or adjunctive therapy if first-line agents fail, but it is not the primary choice for infantile spasms. * **Ethosuximide:** This is the drug of choice for **Absence Seizures**, not infantile spasms. **Clinical Pearls for NEET-PG:** * **Classic EEG finding:** Hypsarrhythmia (disorganized, high-amplitude waves and spikes). * **Vigabatrin Side Effect:** Permanent **visual field constriction** (requires periodic ophthalmological screening). * **Tuberous Sclerosis Triad (Vogt’s Triad):** Adenoma sebaceum, mental retardation, and epilepsy. * **Prognosis:** Generally poor; early treatment is crucial to prevent further cognitive decline.

Q: All of the following are complications of Duchenne Muscular dystrophy except?

Malignant hyperthermia after anesthesia. **Explanation:** Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a mutation in the **dystrophin gene**, leading to progressive muscle degeneration. **Why Option C is the correct answer:** While DMD patients are at high risk for **Anesthesia-Induced Rhabdomyolysis (AIR)** when exposed to volatile anesthetics (like halothane) or succinylcholine, they do **not** develop true **Malignant Hyperthermia (MH)**. MH is specifically caused by a mutation in the *RYR1* (ryanodine receptor) or *CACNA1S* genes. Although the clinical presentation of AIR (hyperkalemia, rhabdomyolysis) mimics MH, the underlying pathophysiology is different; therefore, MH is not considered a direct complication of DMD. **Analysis of Incorrect Options:** * **A. Cardiomyopathy:** Dystrophin is also absent in cardiac muscle. Dilated cardiomyopathy and arrhythmias are nearly universal in DMD patients by the second decade of life. * **B. Contractures:** Progressive muscle fibrosis and weakness lead to joint immobility. Equinovarus (clubfoot) deformities and knee/hip contractures are classic features. * **D. Respiratory Failure:** Weakness of the diaphragm and intercostal muscles, combined with scoliosis, leads to restrictive lung disease. This is the most common cause of death in DMD. **High-Yield Clinical Pearls for NEET-PG:** * **Gower’s Sign:** Use of hands to "climb up" the legs to stand due to proximal muscle weakness. * **Pseudohypertrophy:** The calves appear large but are actually composed of fat and connective tissue (fibrosis). * **Diagnosis:** Elevated Serum Creatine Kinase (CK) is the initial screening test (often >10-50x normal); Genetic testing for dystrophin gene deletion is the gold standard. * **Management:** Glucocorticoids (Prednisolone) are the mainstay to improve strength and delay progression.

Question 1

Agenesis of corpus callosum with retinal colobomas and intellectual disability is seen in which condition?

Accepted Answer

Aicardi syndrome

Answer

Alagille syndrome

Answer

Ape syndrome

Answer

Ataxia telangiectasia

Question 2

A boy presents with weakness in the lower limbs, calf hypertrophy, a positive Gower's sign, and an elevated CPK value of 10,000. What is the most likely diagnosis?

Accepted Answer

Duchenne Muscular Dystrophy

Answer

Spinal Muscular Atrophy

Answer

Myotonia congenita

Answer

Myotonic Dystrophy

Question 3

What is the preferred treatment for Rolandic epilepsy?

Accepted Answer

Carbamazepine

Answer

Phenytoin

Answer

Lamotrigine

Answer

ACTH

Question 4

A CT scan of a child presenting with CNS pathology reveals a subdural effusion. Which of the following conditions commonly leads to subdural effusion in children?

Accepted Answer

Bacterial meningitis

Answer

Tuberculous meningitis

Answer

Trauma

Answer

Viral encephalitis

Question 5

Comment on the diagnosis of a 1-year-old child?

Accepted Answer

Hydrocephalus

Answer

Hydranencephaly

Answer

Lissencephaly

Answer

Encephalocele

Question 6

Regarding Dandy-Walker syndrome, which of the following statements are true and which are false? 1. It is the most common posterior fossa malformation. 2. It consists of a cystic expansion of the 4th ventricle in the posterior fossa and midline cerebellar hypoplasia. 3. The classic triad includes hypoplasia of the vermis, cephalad rotation of the vermian remnant, and cystic dilatation of the 4th ventricle extending posteriorly with a small posterior fossa. 4. The most common manifestation is macrocephaly. 5. Management involves shunting the cystic cavity.

Accepted Answer

1-True, 2-True, 3-False, 4-True, 5-True

Answer

1-True, 2-True, 3-True, 4-True, 5-True

Answer

1-True, 2-False, 3-False, 4-True, 5-True

Answer

1-True, 2-True, 3-True, 4-False, 5-False

Question 7

Which of the following is NOT typically found in cerebral palsy?

Accepted Answer

Microcephaly

Answer

Hypotonicity

Answer

Ataxia

Answer

Flaccid paralysis

Question 8

What is the drug of choice for infantile spasms in a child with Tuberous sclerosis?

Accepted Answer

Vigabatrin

Answer

Diazepam

Answer

ACTH

Answer

Levetiracetam

Question 9

An infant of 5 months presents with sudden dropping of head and flexion of arms. On examination, the infant has a hypopigmented macule on the trunk. What is the drug of choice for this condition?

Accepted Answer

Vigabatrin

Answer

Sodium Valproate

Answer

Ethosuximide

Answer

ACTH

Question 10

All of the following are complications of Duchenne Muscular dystrophy except?

Accepted Answer

Malignant hyperthermia after anesthesia

Answer

Cardiomyopathy

Answer

Contractures

Answer

Respiratory failure

Neurology — MCQs

Neurology — MCQs

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