Neurology Practice Questions

Q: What is the drug of choice in the treatment of infantile spasms?

ACTH. **Explanation:** **Infantile Spasms (West Syndrome)** is characterized by the triad of infantile spasms, arrest of psychomotor development, and a characteristic EEG pattern known as **hypsarrhythmia**. **Why ACTH is the Correct Answer:** Adrenocorticotropic hormone (ACTH) is historically and clinically considered the **first-line drug of choice** for infantile spasms. It is highly effective in suppressing both the clinical spasms and the chaotic hypsarrhythmia on EEG. While the exact mechanism is debated, it is believed to act by reducing the brain's production of Corticotropin-Releasing Hormone (CRH), which acts as an excitatory neuropeptide in the developing brain. **Why Other Options are Incorrect:** * **Phenobarbitone:** This is the drug of choice for neonatal seizures but is ineffective for the specific pathophysiology of West Syndrome. * **Carbamazepine & Phenytoin:** These are sodium channel blockers used for focal or generalized tonic-clonic seizures. In the context of infantile spasms, they are not only ineffective but can occasionally **exacerbate** the spasms. **High-Yield Clinical Pearls for NEET-PG:** 1. **Vigabatrin:** This is the drug of choice specifically if infantile spasms are associated with **Tuberous Sclerosis**. Watch out for its side effect: permanent visual field defects. 2. **Oral Prednisolone:** Often used as an alternative to ACTH due to lower cost and ease of administration, showing comparable efficacy in some studies. 3. **Prognosis:** West Syndrome carries a poor neurodevelopmental prognosis; early aggressive treatment is vital to prevent cognitive decline. 4. **EEG:** Hypsarrhythmia is described as "high voltage, chaotic, disorganized background with multifocal spikes."

Q: A child shows head growth decelerating between the ages of 6 months and 1 year. Which of the following is the most likely diagnosis?

Rett syndrome. **Explanation:** The correct answer is **Rett Syndrome**. This is a neurodevelopmental disorder primarily affecting females, caused by a mutation in the **MECP2 gene** on the X chromosome. **Why Rett Syndrome is correct:** Children with Rett syndrome typically exhibit a period of normal development for the first 6 months of life. This is followed by a characteristic **deceleration of head growth** (leading to acquired microcephaly) between 6 months and 4 years of age. Other hallmark features include the loss of purposeful hand skills, the development of stereotypic hand movements (e.g., hand-wringing), and loss of social engagement, which often mimics autism. **Why the other options are incorrect:** * **Down Syndrome:** Microcephaly is often present from birth (congenital) rather than appearing as a deceleration after 6 months. It is characterized by distinct dysmorphic features and trisomy 21. * **Autistic Disorder:** While social impairment is common, autism is not typically associated with a deceleration of head growth. In fact, some children with autism exhibit *macrocephaly* or accelerated head growth in early childhood. * **Learning Disorder:** These are specific impairments in academic skills (reading, writing, math) and do not manifest with physical growth changes like microcephaly. **High-Yield Clinical Pearls for NEET-PG:** * **Genetics:** X-linked dominant; lethal in most males. * **Key Sign:** Hand-wringing movements are the "classic" board exam clue. * **Stages:** It involves a period of regression followed by a plateau phase. * **Breathing:** Intermittent hyperventilation and apnea are common during wakefulness.

Q: Which of the following is NOT a treatment for infantile spasms?

Phenytoin. **Explanation:** Infantile spasms (West Syndrome) is a severe epileptic encephalopathy characterized by the triad of spasms, hypsarrhythmia on EEG, and developmental regression. The management focuses on specific medications that modulate the GABAergic system or the hypothalamic-pituitary-adrenal axis. **Why Phenytoin is the correct answer:** Phenytoin is a sodium channel blocker primarily used for focal seizures and generalized tonic-clonic seizures. It is **not effective** for infantile spasms and can, in some cases, exacerbate certain types of generalized seizures in infants. It does not address the underlying pathophysiology of West Syndrome. **Analysis of Incorrect Options:** * **ACTH (Adrenocorticotropic Hormone):** Historically considered the first-line treatment and the most effective agent for achieving rapid cessation of spasms and resolution of hypsarrhythmia. * **Corticosteroids (e.g., Oral Prednisolone):** Often used as an alternative to ACTH due to lower cost and ease of administration, showing comparable efficacy in high doses. * **Vigabatrin:** An irreversible inhibitor of GABA transaminase. It is the **drug of choice** specifically for infantile spasms associated with **Tuberous Sclerosis**. **High-Yield Clinical Pearls for NEET-PG:** * **West Syndrome Triad:** Spasms + Hypsarrhythmia + Mental Retardation. * **Drug of Choice (General):** ACTH or high-dose Prednisolone. * **Drug of Choice (Tuberous Sclerosis):** Vigabatrin. * **Side Effect Alert:** Vigabatrin is associated with permanent **visual field defects** (concentric peripheral field loss), requiring regular ophthalmological monitoring. * **Ketogenic Diet:** Often used as a second-line therapy for refractory cases.

Q: Which of the following statements is true regarding Rett syndrome?

None of the above. **Explanation:** Rett syndrome is a unique neurodevelopmental disorder caused by a mutation in the **MECP2 gene** on the X chromosome. The correct answer is **None of the above** because the provided options contradict the clinical hallmarks of the disease. 1. **Why Option A is incorrect:** Rett syndrome is seen **almost exclusively in girls**. In males, the mutation is typically lethal in utero or results in severe neonatal encephalopathy because they lack a second X chromosome to compensate for the defect. 2. **Why Option B is incorrect:** Motor abnormalities are a core feature. After a period of normal development (6–18 months), patients experience a "regression" phase characterized by the loss of purposeful hand skills and the development of **stereotypical hand-wringing movements**. Ataxia and gait disturbances are also common. 3. **Why Option C is incorrect:** It is associated with **severe intellectual disability**. The regression phase involves a loss of acquired speech and social withdrawal, often mimicking autism, followed by permanent cognitive impairment. **High-Yield Clinical Pearls for NEET-PG:** * **Genetics:** X-linked dominant inheritance; MECP2 gene mutation (Methyl-CpG-binding protein 2). * **Key Sign:** Purposeful hand movements are replaced by repetitive **"hand-washing" or "hand-wringing"** stereotypes. * **Head Growth:** Characterized by **acquired microcephaly** (deceleration of head growth starting in infancy). * **Respiratory:** Patients often exhibit episodic hyperventilation or breath-holding spells while awake. * **Seizures:** Highly prevalent in these patients (up to 80%).

Q: A 4-year-old girl developed clumsiness and difficulty ambulating over 6 months. On physical examination, she showed difficulty with balance while walking, dysarthria, poor hand coordination, absent deep tendon reflexes, and a bilateral Babinski sign. Light touch and vibratory sensation were greatly diminished. There was no muscular weakness. Over the next 5 years, she developed congestive heart failure from hypertrophic cardiomyopathy. She also had hyperglycemia. At autopsy, there was increased perinuclear iron deposition within cardiac myocytes. Which of the following genetic abnormalities with trinucleotide repeat expansions was most likely present in this patient?

GAA repeats in the frataxin gene. ### **Explanation** The clinical presentation describes **Friedreich Ataxia (FA)**, the most common inherited ataxia. It typically manifests before age 20 with progressive limb and gait ataxia, dysarthria, and loss of deep tendon reflexes (due to peripheral neuropathy). **Why Option D is Correct:** Friedreich Ataxia is an **autosomal recessive** trinucleotide repeat disorder characterized by **GAA repeats** in the **FXN gene** on chromosome 9. This gene encodes **frataxin**, a mitochondrial protein involved in iron homeostasis. * **Pathophysiology:** Deficiency of frataxin leads to mitochondrial iron overload, causing oxidative stress and damage to the posterior columns (loss of vibration/proprioception), spinocerebellar tracts (ataxia), and corticospinal tracts (Babinski sign). * **Systemic Involvement:** The "classic triad" for exams includes **neurological deficits**, **Hypertrophic Cardiomyopathy** (the leading cause of death, often showing iron deposition in myocytes), and **Diabetes Mellitus/Hyperglycemia**. **Why Other Options are Incorrect:** * **Option A (CAG):** Associated with **Huntington Disease**. Presents with chorea and dementia in adults; it involves atrophy of the caudate nucleus. * **Option B (CGG):** Associated with **Fragile X Syndrome**. Presents with intellectual disability, macroorchidism, and long face/large ears. * **Option C (CTG):** Associated with **Myotonic Dystrophy**. Presents with "CTG" (Cataracts, Toupee/early balding, Gonadal atrophy) and myotonia (delayed muscle relaxation). **NEET-PG High-Yield Pearls:** * **Inheritance:** Autosomal Recessive (unique among most trinucleotide repeat disorders which are often Dominant). * **Mnemonic for GAA:** **G**ait **A**taxia **A**lways. * **Cardiac finding:** Hypertrophic Cardiomyopathy (HCM) is seen in 90% of patients. * **Skeletal findings:** Kyphoscoliosis and Pes Cavus (high arched feet) are common associations.

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.

Question 1

What is the drug of choice in the treatment of infantile spasms?

Accepted Answer

ACTH

Answer

Phenobarbitone

Answer

Carbamazepine

Answer

Phenytoin

Question 2

A child shows head growth decelerating between the ages of 6 months and 1 year. Which of the following is the most likely diagnosis?

Accepted Answer

Rett syndrome

Answer

Down syndrome

Answer

Autistic disorder

Answer

Learning disorder

Question 3

Which of the following is NOT a treatment for infantile spasms?

Accepted Answer

Phenytoin

Answer

Corticosteroids

Answer

ACTH

Answer

Vigabatrin

Question 4

A 6-year-old boy presents with progressive weakness in muscles and difficulty walking upstairs. He has difficulty walking on his toes and exhibits a waddling gait. Calf muscle hypertrophy is noted, and his CPK levels are 10,000 LU. Which of the following is the most appropriate diagnosis?

Accepted Answer

Duchenne muscular dystrophy

Answer

Polymyositis

Answer

Congenital myopathy

Answer

Myotonia congenita

Question 5

Which of the following statements is true regarding Rett syndrome?

Accepted Answer

None of the above

Answer

Seen only in boys

Answer

Does not involve motor abnormalities

Answer

Associated with normal intelligence

Question 6

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 7

A 4-year-old girl developed clumsiness and difficulty ambulating over 6 months. On physical examination, she showed difficulty with balance while walking, dysarthria, poor hand coordination, absent deep tendon reflexes, and a bilateral Babinski sign. Light touch and vibratory sensation were greatly diminished. There was no muscular weakness. Over the next 5 years, she developed congestive heart failure from hypertrophic cardiomyopathy. She also had hyperglycemia. At autopsy, there was increased perinuclear iron deposition within cardiac myocytes. Which of the following genetic abnormalities with trinucleotide repeat expansions was most likely present in this patient?

Accepted Answer

GAA repeats in the frataxin gene

Answer

CAG repeats in the huntingtin gene

Answer

CGG repeats in the FMR1 gene

Answer

CTG repeats in the dystrophia myotonica-protein kinase gene

Question 8

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 9

What is the most frequent form of childhood epilepsy?

Accepted Answer

Tonic-clonic seizures

Answer

Absence seizures

Answer

Myoclonic seizures

Answer

Neonatal seizures

Question 10

Which of the following statements comparing diplegia and quadriplegia is FALSE?

Accepted Answer

Diplegia is weakness in the upper limbs more than the lower limbs.

Answer

Quadriplegia is the most severe form of cerebral palsy.

Answer

Quadriplegia is usually associated with mental retardation and seizures.

Answer

All of the above statements are correct.

Neurology — MCQs

Neurology — MCQs

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