Neurology Practice Questions

Q: A child presents with complaints of pain in the neck and right shoulder with restricted range of motion. What is the diagnosis?

Facioscapulohumeral dystrophy. ***Facioscapulohumeral dystrophy*** - Presents with **asymmetric weakness** affecting facial, shoulder, and upper arm muscles, causing **scapular winging** and the characteristic **coat-hanger shoulder appearance**. - The **restricted range of motion** in neck and shoulder with pain is typical due to progressive muscle weakness and compensatory mechanisms in children. *Klippel Feil syndrome* - A **congenital fusion** of cervical vertebrae causing **short neck** and **limited neck rotation** from birth. - Typically presents with **structural abnormalities** like low posterior hairline and **webbed neck**, not progressive muscle weakness. *Long thoracic nerve injury* - Causes **serratus anterior weakness** leading to **medial scapular winging** when pushing against resistance. - Usually results from **trauma** or **repetitive overhead activities**, not associated with neck pain or facial involvement. *None of the above* - The clinical presentation of **asymmetric neck and shoulder pain** with **restricted motion** in a child is characteristic of FSHD. - The combination of symptoms fits well with **facioscapulohumeral dystrophy** rather than other differential diagnoses.

Q: What is true about the severity of limb affection in Spastic Diplegia of Cerebral Palsy?

Lower limbs > Upper limbs. ### Explanation **Spastic Diplegia** is a specific subtype of Spastic Cerebral Palsy, most commonly associated with **Periventricular Leukomalacia (PVL)** in premature infants. **1. Why Option A is Correct:** The underlying anatomical reason lies in the **topography of the Corticospinal Tract** within the internal capsule and motor cortex. The nerve fibers supplying the lower extremities are located medially, closer to the ventricles. In PVL, ischemia or injury occurs in the periventricular white matter. Because the fibers for the **lower limbs** are closest to these ventricles, they are most severely affected. While the upper limbs may show mild clumsiness or hyperreflexia, the motor impairment is significantly more pronounced in the legs (**Lower limbs > Upper limbs**). **2. Why Other Options are Wrong:** * **Options B & C:** In diplegia, all four limbs are technically involved, but there is a striking disparity in severity. It is rarely "only" the lower limbs; subtle signs (like impaired fine motor skills) are usually present in the hands. * **Option D:** This describes **Hemiplegia** (ipsilateral arm and leg) or **Monoplegia** (one limb), which have different etiologies, such as neonatal stroke. **3. High-Yield Clinical Pearls for NEET-PG:** * **Most Common Cause:** Prematurity (leading to Periventricular Leukomalacia). * **Classic Gait:** **Scissor Gait** (due to spasticity of hip adductors). * **Physical Exam:** Look for the "Commando Crawl" (using arms only while dragging legs) and early "Handedness" (before age 1). * **Imaging:** MRI is the gold standard to visualize PVL or structural brain malformations. * **Terminology Note:** If all four limbs are equally and severely affected, it is termed **Spastic Quadriplegia**.

Q: What is the most frequent form of childhood epilepsy?

Tonic-clonic seizures. **Explanation:** **Generalized Tonic-Clonic Seizures (GTCS)** are the most frequent form of childhood epilepsy. While many specific epilepsy syndromes (like Benign Rolandic Epilepsy) are unique to childhood, the clinical manifestation of tonic-clonic activity remains the most common seizure type encountered across all pediatric age groups beyond the neonatal period. * **Why Tonic-Clonic is Correct:** GTCS can occur as a primary generalized event or as a focal seizure that undergoes secondary generalization. Due to its dramatic clinical presentation, it is the most frequently reported and diagnosed seizure type in pediatric clinics and emergency departments. **Analysis of Incorrect Options:** * **Absence Seizures:** While classic in school-aged children (6–12 years), they account for only about 10–15% of childhood epilepsies. They are characterized by brief "staring spells" and 3 Hz spike-and-wave discharges. * **Myoclonic Seizures:** These involve sudden, brief "shocks" of muscle groups. While common in specific syndromes like Juvenile Myoclonic Epilepsy (JME), they are less frequent than GTCS. * **Neonatal Seizures:** These occur within the first 28 days of life. While common in the NICU setting, they are considered a specific age-related category rather than the most frequent form of epilepsy throughout childhood. **High-Yield Clinical Pearls for NEET-PG:** * **Most common cause of seizures in children:** Febrile seizures (though these are not classified as "epilepsy"). * **Most common focal epilepsy of childhood:** Benign Rolandic Epilepsy (Benign Epilepsy with Centrotemporal Spikes). * **Drug of Choice (DOC):** Valproate is generally the DOC for generalized epilepsies, while Levetiracetam or Carbamazepine are preferred for focal seizures. * **EEG Hallmark:** 3 Hz spike-and-wave is pathognomonic for Absence Seizures; 4–6 Hz polyspike-and-wave is characteristic of JME.

Q: A six-month-old baby girl, who was normal at birth, begins to show signs of motor retardation. While she could sit up at 5 months, she can no longer do so. As time goes on, the child continues to deteriorate and eventually becomes unresponsive to visual or auditory stimuli. Funduscopic examination reveals cherry-red macular spots in both eyes. Which of the following genetic abnormalities is most often related to the development of this disease?

Frameshift mutation. **Explanation:** The clinical presentation of a previously normal infant experiencing **motor regression**, loss of milestones (sitting), and the presence of **cherry-red spots** on fundoscopy is classic for **Tay-Sachs Disease** (GM2 Gangliosidosis). This autosomal recessive disorder is caused by a deficiency of the enzyme **Hexosaminidase A**, leading to the accumulation of GM2 ganglioside in neuronal lysosomes. **Why Frameshift Mutation is Correct:** The most common genetic defect associated with Tay-Sachs disease (especially in the Ashkenazi Jewish population) is a **4-base pair insertion** in the *HEXA* gene on chromosome 15. This insertion causes a **frameshift mutation**, leading to a premature stop codon and a complete lack of functional Hexosaminidase A enzyme. **Analysis of Incorrect Options:** * **Confined placental mosaicism:** Refers to a discrepancy between the chromosomal makeup of the placenta and the fetus; it is typically associated with intrauterine growth restriction, not lysosomal storage disorders. * **Expanded trinucleotide repeat:** This is the mechanism for diseases like Huntington’s, Fragile X, and Myotonic Dystrophy, which show "anticipation." * **Nondisjunction:** This is the failure of homologous chromosomes to separate during meiosis, leading to aneuploidies like Down Syndrome (Trisomy 21). **High-Yield Clinical Pearls for NEET-PG:** * **Cherry-red spot differential:** Tay-Sachs (no hepatosplenomegaly), Niemann-Pick (with hepatosplenomegaly), Central Retinal Artery Occlusion (CRAO), and Sandhoff disease. * **Tay-Sachs vs. Niemann-Pick:** In Tay-Sachs, there is **no organomegaly**, which distinguishes it from Niemann-Pick (Sphingomyelinase deficiency). * **Exaggerated Startle Response:** A key early sign in Tay-Sachs is hyperacusis (sensitivity to loud noises).

Q: A 6-month-old child presents with port wine stain, mental retardation, and recurrent focal seizures. Which of the following is NOT true about the condition?

Strawberry Hemangioma. ### Explanation The clinical triad of a **Port-wine stain** (Nevus Flammeus), **mental retardation**, and **recurrent focal seizures** is diagnostic of **Sturge-Weber Syndrome (SWS)**, also known as Encephalotrigeminal Angiomatosis. **Why "Strawberry Hemangioma" is the correct answer (NOT true):** Sturge-Weber Syndrome is characterized by a **Port-wine stain**, which is a permanent capillary malformation (vascular nevus) present at birth. In contrast, a **Strawberry Hemangioma** (Infantile Hemangioma) is a benign proliferating vascular tumor that typically appears after birth, grows rapidly, and eventually involutes. They are pathologically and clinically distinct entities. **Analysis of other options:** * **A. Optic nerve cupping:** Glaucoma occurs in approximately 30-70% of SWS patients due to increased episcleral venous pressure or anterior chamber angle anomalies. Chronic glaucoma leads to **optic nerve cupping** and potential blindness. * **B. Tram track appearance:** This is a classic radiological finding on CT/X-ray caused by **gyriform calcifications** in the leptomeningeal angiomas (usually in the parieto-occipital region). * **C. Vagal nerve stimulation (VNS):** Seizures in SWS are often refractory to medical management. While hemispherectomy is the definitive surgical treatment for unilateral disease, **VNS** is a recognized palliative neuromodulation option to control recurrent, drug-resistant seizures. ### Clinical Pearls for NEET-PG: * **Genetics:** Caused by a somatic mutation in the **GNAQ gene**. It is sporadic, not hereditary. * **Port-wine stain distribution:** Usually follows the ophthalmic (V1) and maxillary (V2) distributions of the **Trigeminal nerve**. * **Radiology:** Contrast-enhanced MRI is the gold standard for detecting leptomeningeal enhancement ("pial angiomatosis"). * **Skull X-ray:** May show the "Tram track" sign (calcification of the underlying cortex, not the vessels themselves).

Q: Pseudohypertrophy of muscles is seen in which of the following conditions?

Duchenne muscular dystrophy. **Explanation:** **Duchenne Muscular Dystrophy (DMD)** is the correct answer because **pseudohypertrophy** is its hallmark clinical feature. This phenomenon occurs due to the replacement of degenerated muscle fibers with **fatty and connective tissue**, rather than actual muscle fiber enlargement. It most commonly affects the **calf muscles (gastrocnemius)**, making them appear bulky despite significant functional weakness. **Analysis of Options:** * **Duchenne Muscular Dystrophy (A):** An X-linked recessive disorder caused by a mutation in the *Dystrophin* gene. It presents with proximal muscle weakness, Gower’s sign, and prominent calf pseudohypertrophy. * **Facio-scapulo-humeral dystrophy (B):** Characterized by weakness of the face (inability to whistle), scapular winging, and upper arm weakness. Pseudohypertrophy is not a feature. * **Emery-Dreifuss muscular dystrophy (C):** Defined by a triad of early contractures (Achilles tendon, elbows), slowly progressive muscle weakness, and significant **cardiac conduction defects**. * **Myotonic dystrophy (D):** The most common adult-onset dystrophy. It features **distal** muscle weakness, myotonia (delayed relaxation), and "hatchet facies." It is associated with muscle **atrophy**, not pseudohypertrophy. **High-Yield Clinical Pearls for NEET-PG:** * **Gower’s Sign:** Use of hands to "climb up" one's own body to stand; indicates proximal muscle weakness (seen in DMD). * **Becker Muscular Dystrophy:** A milder form of DMD; also shows pseudohypertrophy but has a later onset. * **Lab Findings:** Serum **Creatine Kinase (CK)** levels are massively elevated (10–100x normal) in DMD. * **Gold Standard Diagnosis:** Genetic testing (MLPA) for dystrophin gene deletion; Muscle biopsy shows absent dystrophin staining.

Q: A 6-year-old child presents with acute onset of fever (104°F) and febrile seizures. What prophylactic measure should be recommended to prevent future recurrence of seizures?

Oral Diazepam 6-hourly. **Explanation:** The clinical presentation describes a typical **febrile seizure**. The management of febrile seizures is divided into acute treatment and prophylaxis. For a child with a history of febrile seizures, **intermittent prophylaxis** is indicated during subsequent febrile episodes to prevent recurrence. **1. Why Option B is Correct:** **Oral Diazepam (0.3 mg/kg/dose)** administered every 8 hours (or 6-hourly) during the first 48–72 hours of a febrile illness is the standard recommendation for intermittent prophylaxis. It effectively crosses the blood-brain barrier to provide rapid sedation of neuronal excitability during the peak temperature rise, which is when seizures are most likely to occur. **2. Why Other Options are Incorrect:** * **Option A:** Continuous daily prophylaxis with Phenobarbital or Valproate is no longer recommended due to significant side effects (hyperactivity, cognitive impairment) and the benign nature of febrile seizures. * **Option C:** While Paracetamol (Antipyretics) improves the child's comfort, clinical trials have shown that **antipyretics alone do not prevent the recurrence** of febrile seizures, as the seizure often occurs during the rapid rise of temperature before the fever is even detected. * **Option D:** IV Diazepam infusion is used for managing *Status Epilepticus*, not for prophylaxis in a stable child. **Clinical Pearls for NEET-PG:** * **Age Group:** Typically occurs between 6 months and 5 years (Peak: 18 months). * **Simple vs. Complex:** Simple febrile seizures are generalized, last 15 minutes, or recur within 24 hours. * **Risk of Epilepsy:** Only 2–4% (slightly higher than the general population). * **Drug of Choice (Acute):** Per-rectal Diazepam (0.5 mg/kg) or Intranasal Midazolam if the seizure lasts >5 minutes.

Question 1

An infant presented with mental retardation, regression of motor skills, problems with feeding, impaired head control, and macrocephaly. MRI of the infant is shown below. What is the most probable diagnosis?

Accepted Answer

Canavan disease

Answer

Hawkinsinuria

Answer

Oasthouse syndrome

Answer

Hartnup disease

Question 2

A 9-year-old boy presents with a several-day history of progressive arm and leg weakness. He had an upper respiratory infection two weeks prior to presentation. The patient is alert and oriented. On repeated examination, the heart rate varies between 60 and 140 beats/minute and the blood pressure varies between 90/60 and 140/90 mm Hg. Respirations are shallow with a rate of 50/minute. There is symmetric weakness of the face and all four extremities. Deep tendon reflexes are absent. Sensation is intact. What is the most likely diagnosis?

Accepted Answer

Guillain-Barre syndrome

Answer

Polymyositis

Answer

Myasthenia gravis

Answer

Transverse myelitis

Question 3

A child presents with complaints of pain in the neck and right shoulder with restricted range of motion. What is the diagnosis?

Accepted Answer

Facioscapulohumeral dystrophy

Answer

Klippel Feil syndrome

Answer

Long thoracic nerve injury

Answer

None of the above

Question 4

What is true about the severity of limb affection in Spastic Diplegia of Cerebral Palsy?

Accepted Answer

Lower limbs > Upper limbs

Answer

Lower limbs only

Answer

Upper limbs only

Answer

One upper limb and one lower limb

Question 5

What is the most frequent form of childhood epilepsy?

Accepted Answer

Tonic-clonic seizures

Answer

Absence seizures

Answer

Myoclonic seizures

Answer

Neonatal seizures

Question 6

What is the diagnosis in an infant presenting with a large head?

Accepted Answer

Hydranencephaly

Answer

Anencephaly

Answer

Hydrocephalus

Answer

Hydrops fetalis

Question 7

A six-month-old baby girl, who was normal at birth, begins to show signs of motor retardation. While she could sit up at 5 months, she can no longer do so. As time goes on, the child continues to deteriorate and eventually becomes unresponsive to visual or auditory stimuli. Funduscopic examination reveals cherry-red macular spots in both eyes. Which of the following genetic abnormalities is most often related to the development of this disease?

Accepted Answer

Frameshift mutation

Answer

Confined placental mosaicism

Answer

Expanded trinucleotide repeat

Answer

Nondisjunction

Question 8

A 6-month-old child presents with port wine stain, mental retardation, and recurrent focal seizures. Which of the following is NOT true about the condition?

Accepted Answer

Strawberry Hemangioma

Answer

Optic nerve cupping

Answer

Tram track appearance on CT scan of the skull

Answer

Vagal nerve stimulation to control recurrent seizures

Question 9

Pseudohypertrophy of muscles is seen in which of the following conditions?

Accepted Answer

Duchenne muscular dystrophy

Answer

Facio-scapulo-humeral dystrophy

Answer

Emery-Dreifuss muscular dystrophy

Answer

Myotonic dystrophy

Question 10

A 6-year-old child presents with acute onset of fever (104°F) and febrile seizures. What prophylactic measure should be recommended to prevent future recurrence of seizures?

Accepted Answer

Oral Diazepam 6-hourly

Answer

Paracetamol 400 mg daily plus Phenobarbital daily

Answer

Paracetamol 400 mg 6-hourly

Answer

Intravenous diazepam infusion over 12 hours

Neurology — MCQs

Neurology — MCQs

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