Neurology Practice Questions

Q: A child presents with hepatosplenomegaly & cherry red spots in the eye. He also has developmental regression with normal startle response. Likely enzyme deficiency?

Sphingomyelinase. ***Sphingomyelinase (Correct Answer)*** - The triad of **hepatosplenomegaly**, **developmental regression**, and **cherry red spots** in the eye is the classic presentation of **Type A Niemann-Pick disease (NPD A)**. - **NPD A** is caused by the deficient activity of the lysosomal enzyme **sphingomyelinase**, leading to the accumulation of **sphingomyelin** in the reticuloendothelial system and CNS. - The **normal startle response** is a key distinguishing feature from Tay-Sachs disease. *Hexosaminidase A (Incorrect)* - Deficiency of **Hexosaminidase A** causes **Tay-Sachs disease**, which presents with **cherry red spots** and severe neurodegeneration, but **lacks hepatosplenomegaly**. - The **exaggerated startle response** (hyperacusis) is a classic feature of Tay-Sachs, which is noted as **normal** in this specific clinical presentation—making it a key differentiator. *Arylsulfatase A (Incorrect)* - Deficiency of **Arylsulfatase A** causes **Metachromatic Leukodystrophy (MLD)**, characterized by progressive demyelination and neurological regression. - **MLD** does not typically present with **cherry red spots** or significant **hepatosplenomegaly**. *Glucocerebrosidase (Incorrect)* - Deficiency of **Glucocerebrosidase** causes **Gaucher's disease**, which is characterized by massive **hepatosplenomegaly** and bone crises. - **Gaucher's disease** does **not** typically present with **cherry red spots** or the unique pattern of early neurodegeneration seen here (except for the rare Type 2 form).

Q: A neonate is found to have multiple hypopigmented macules and ash-leaf spots on Wood's lamp examination. Which of the following is the most likely diagnosis?

Tuberous Sclerosis. ***Tuberous Sclerosis*** - **Ash-leaf spots** (hypopigmented macules shaped like an ash leaf) are the most common cutaneous manifestation of **Tuberous Sclerosis Complex (TSC)** and are best visualized under a **Wood's lamp**. - TSC is an autosomal dominant neurocutaneous disorder characterized by hamartomatous lesions in multiple organs, including the brain (**subependymal giant cell astrocytomas**), kidneys (**angiomyolipomas**), and heart (**rhabdomyomas**). *Sturge-Weber Syndrome* - Characterized by a **port-wine stain** (capillary malformation) typically in the distribution of the ophthalmic branch of the **trigeminal nerve (V1)**. - Associated features include **leptomeningeal angioma** (causing seizures) and ocular abnormalities like **glaucoma**. *Neurofibromatosis Type 1* - The characteristic pigmented lesions are **café-au-lait spots** (uniform, light-brown macules), typically six or more, along with **axillary or inguinal freckling**. - Associated with **Lisch nodules** (iris hamartomas) and **neurofibromas**. *Incontinentia Pigmenti* - A rare X-linked dominant disorder, usually lethal in males, presenting with characteristic skin lesions in phases (vesicular, verrucous, hyperpigmented, and atrophic). - The hyperpigmented phase consists of swirling, marble-cake patterns of brown-gray macules along the **Blaschko lines**, not ash-leaf spots.

Q: A 3-year-old child is brought to the emergency room with a generalized seizure following a high-grade fever. What is the first-line drug of choice for seizure control in this acute febrile setting?

Diazepam. ***Diazepam*** - **Benzodiazepines** like Diazepam and Lorazepam are the preferred first-line agents for aborting acute seizures, including **febrile seizures**, due to their rapid onset of action. - They potentiate the inhibitory effects of **GABA** (gamma-aminobutyric acid), quickly halting seizure activity. *Valproate* - Valproate is a broad-spectrum **antiepileptic drug (AED)** used for maintenance therapy, not typically the first choice for acute seizure termination in the emergency setting. - While effective, its onset of action is slower compared to rapid-acting benzodiazepines for emergency control. *Fosphenytoin* - Fosphenytoin is a **prodrug** of Phenytoin, typically reserved for status epilepticus or when benzodiazepines fail, as it lacks the rapid action required for immediate seizure control. - Its use is associated with potential side effects like **cardiac rhythm disturbance** and is generally second or third line. *Doxycycline / Amoxicillin* - These are **antibiotics** (Doxycycline is preferred for atypical pneumonia/tick-borne diseases; Amoxicillin for common bacterial infections) and have absolutely **no role** in the acute control of seizures. - This question relates to seizure management, not the empirical treatment of the fever's underlying infection.

Q: A child presents with regression of milestones and has become blind. On examination spasticity is noted in both legs. Fundus examination is given. What is the diagnosis? (Recent NEET Pattern 2016-17)

Leukodystrophy. ***Leukodystrophy*** - The image shows a **cherry-red spot** which is a classic finding in certain **lysosomal storage disorders** like Tay-Sachs disease, GM1 gangliosidosis, and Niemann-Pick disease type A. - These conditions cause **neurodegeneration** with regression of milestones, **spasticity**, and **blindness**. - While technically many cherry-red spot disorders affect **gray matter (poliodystrophies)**, some lysosomal storage disorders affect both white and gray matter, and the term leukodystrophy is sometimes used broadly in clinical practice. - The combination of **regression, spasticity, blindness, and cherry-red spot** points to lysosomal storage disorders. *Poliodystrophy* - **Poliodystrophy** refers to degeneration of the **gray matter** of the brain, in contrast to leukodystrophy which primarily affects white matter. - Cherry-red spot disorders like Tay-Sachs are technically poliodystrophies, as they predominantly affect gray matter (retinal ganglion cells). - This is a very close differential, but in NEET PG context, leukodystrophy is often used as an umbrella term for progressive neurodegenerative disorders. *Peroxisomal disorder* - **Peroxisomal disorders** like Zellweger syndrome cause developmental delay, hypotonia, and vision problems, but they typically do **not present with a cherry-red spot**. - These disorders involve impaired peroxisome function affecting multiple organs including liver, kidneys, and brain. - The specific fundoscopic finding of cherry-red spot points away from peroxisomal disorders. *Glycogen storage disorder* - **Glycogen storage disorders** primarily affect **carbohydrate metabolism** and lead to accumulation of glycogen in various tissues. - They cause symptoms like **hepatomegaly, hypoglycemia, and muscle weakness**. - They are **not associated with neurological regression, spasticity, or a cherry-red spot** on funduscopic examination.

Q: A 12-year-old boy presents with difficulty in noting from blackboard in school. Initially refraction error was considered but visual acuity was normal. He has started complaining of diplopia on watching TV or after studying for long. He takes very long time to finish his meals and his speech becomes very difficult to understand after speaking continuously for few minutes. All tests are indicated for diagnosis except?

Anti-TPO antibody. ***Anti-TPO antibody*** - This test measures antibodies against **thyroid peroxidase**, which are associated with autoimmune thyroid conditions like Hashimoto's thyroiditis. - The patient's symptoms (diplopia, dysphagia, dysarthria, fatigue worsening with activity) are highly suggestive of **myasthenia gravis**, not a primary thyroid disorder, making Anti-TPO antibodies **not indicated** for diagnosis. *Edrophonium test* - The **edrophonium (Tensilon) test** is a classic diagnostic tool for myasthenia gravis, where rapid, temporary improvement in muscle weakness is observed after intravenous administration of edrophonium. - This test is highly indicated due to the patient's fluctuating and fatigable muscle weakness affecting ocular, bulbar, and possibly limb muscles. *Single fiber EMG* - **Single fiber electromyography (SFEMG)** is considered the most sensitive diagnostic test for myasthenia gravis. - It detects increased **neuromuscular jitter and blocking**, which are characteristic findings in myasthenia gravis due to impaired neuromuscular transmission. *Nerve conduction velocity* - Standard **nerve conduction velocity (NCV)** studies are typically normal in myasthenia gravis as it is a disorder of the neuromuscular junction, not nerve conduction itself. - However, **repetitive nerve stimulation (RNS)**, a specialized electrodiagnostic study, shows a characteristic **decremental response** (>10% reduction in amplitude) and **is indicated** for diagnosis of myasthenia gravis. - In the context of this question, NCV likely refers to standard nerve conduction studies (which are less helpful), but electrodiagnostic testing including RNS is part of the diagnostic workup.

Q: A 12-year-old boy presents with difficulty in reading from the blackboard in school. Initially refraction error was considered but visual acuity was normal. He has started complaining of diplopia on watching TV or after studying for long. He takes very long time to finish his meals and his speech becomes very difficult to understand after speaking continuously for few minutes. Anti-Acetylcholine receptor blocking antibody is detected in high titers. All are done in management except? (Recent NEET Pattern 2016-17)

Atropine. ***Atropine*** - The patient's symptoms (diplopia, dysphagia, dysarthria, and improvement with rest, along with high titers of **anti-acetylcholine receptor blocking antibody**) are classic for **myasthenia gravis (MG)** [1], [2]. - **Atropine** is an anticholinergic agent that may occasionally be used to manage muscarinic side effects of cholinesterase inhibitors (like pyridostigmine), such as bradycardia, hypersalivation, or diarrhea [3]. - However, **atropine is NOT a primary treatment modality for MG** and is not part of routine management protocols [3]. It does not address the underlying pathophysiology or improve muscle strength. - In contrast, the other options represent core components of MG management. *Pyridostigmine* - **Pyridostigmine** is an **acetylcholinesterase inhibitor** and is the **first-line symptomatic treatment** for myasthenia gravis [1]. - It increases the amount of acetylcholine available at the neuromuscular junction, improving muscle strength and function. *Steroids* - **Corticosteroids** (like prednisone) are a mainstay of **immunosuppressive therapy** for myasthenia gravis, used to reduce the autoimmune attack on acetylcholine receptors [1]. - They are typically used when symptoms are not adequately controlled by pyridostigmine alone or in moderate to severe cases. *CT chest* - A **CT scan of the chest** is crucial in the initial workup of myasthenia gravis to screen for a **thymoma**, a tumor of the thymus gland. - Thymomas are associated with MG in 10-15% of patients, and their presence often dictates the need for thymectomy. - Even in the absence of thymoma, thymic hyperplasia is common in MG patients.

Q: A female baby of 6 years presents with the features shown in image. All the following statements regarding this condition are true except:

Galactorrhea. ***Galactorrhea (Correct Answer - FALSE Statement)*** - **Galactorrhea** (inappropriate lactation) is **NOT a typical feature of precocious puberty** - While both involve hormonal changes, precocious puberty is characterized by early development of secondary sexual characteristics (thelarche, pubarche, menarche), not milk production - Galactorrhea is associated with hyperprolactinemia, which is a separate endocrine disorder - **This is the EXCEPT/FALSE statement, making it the correct answer** *GnRH analog is the drug of choice (TRUE - Incorrect for EXCEPT question)* - For **central precocious puberty**, **GnRH analogs** (leuprolide, triptorelin) are the first-line treatment - They suppress the pituitary-gonadal axis by downregulating GnRH receptors, halting pubertal progression - Treatment goals include preserving adult height potential and preventing psychosocial complications *Most common cause is constitutional (TRUE - Incorrect for EXCEPT question)* - **Idiopathic/constitutional central precocious puberty** is the most common cause in girls (~90% of cases) - No underlying pathological cause is identified; the hypothalamic-pituitary-gonadal axis is activated prematurely - More common in girls than boys; boys require more thorough workup for CNS pathology *This condition is associated with McCune Albright syndrome (TRUE - Incorrect for EXCEPT question)* - **McCune-Albright syndrome** causes **peripheral (gonadotropin-independent) precocious puberty** - Classic triad: café-au-lait spots, polyostotic fibrous dysplasia, and autonomous endocrine hyperfunction - Results from activating mutation in GNAS gene causing autonomous ovarian function - While less common than idiopathic causes, it is an important differential diagnosis

Q: Which neural tube defect is shown here:

Anencephaly. ***Anencephaly*** - This image depicts a fetus with anencephaly, characterized by the **absence of a major portion of the brain, skull, and scalp**. - The distinctive features are the **exposed brain tissue** (represented by the light blue and white mass on the head) and the **lack of a developed skullcap** above the eyes. - **Neural tube defect** resulting from failure of the **rostral (anterior) neuropore to close** during weeks 3-4 of embryonic development. - Incompatible with life; most infants are stillborn or die shortly after birth. *Schizencephaly* - **NOT a neural tube defect** - this is a rare **neuronal migration disorder** characterized by abnormal clefts in the cerebral hemispheres. - Results from abnormal neuronal migration during brain development, not from neural tube closure failure. - Does not present with external cranial defects or absence of skull and brain tissue as seen in anencephaly. *Lissencephaly* - **NOT a neural tube defect** - this is a **neuronal migration disorder** characterized by absent or decreased gyri and sulci, giving a smooth brain appearance. - Results from defective neuronal migration during cortical development. - This is an internal structural defect without the obvious external cranial and brain tissue absence characteristic of anencephaly. *Cranioschisis* - Cranioschisis refers to a defect where the **cranium fails to close properly**. - While related to neural tube defects, the image specifically shows **complete absence of the forebrain and skull above the orbits** (anencephaly) rather than simply a skull closure defect with intact but exposed brain tissue.

Q: Name the neural tube defect shown here:

Cranioschisis. ***Cranioschisis*** - *Cranioschisis* refers to a **fissure or defect in the skull**, often associated with exposure of brain tissue. The image shows significant disruption of the cranial vault and exposed tissue, consistent with this condition. - This is a broad term that encompasses various degrees of skull non-closure, typically occurring in the **earlier stages of neural tube development**. *Anencephaly* - *Anencephaly* specifically involves the **absence of a major portion of the brain, skull, and scalp**, resulting from failed closure of the anterior neural tube. While there is a cranial defect, the image appears to show some disorganized brain tissue, not a complete absence. - The characteristic presentation of anencephaly is a **frog-like appearance** due to the exposed brain and absent vault, which is not fully depicted as such here. *Meningocele* - A *meningocele* is a neural tube defect where the **meninges protrude through a defect in the skull or spine**, forming a sac filled only with cerebrospinal fluid. There are no neural elements in the sac. - The image shows exposed neural tissue rather than a fluid-filled sac, making meningocele an unlikely diagnosis. *Iniencephaly* - *Iniencephaly* is a rare and severe neural tube defect characterized by **extreme retroflexion of the head**, a short neck, and often extensive spina bifida. - The image does not clearly demonstrate the characteristic retroflexion of the head or the severe neck anomalies associated with iniencephaly.

Q: Identify the following congenital defect:

Myelomeningocele. ***Myelomeningocele*** - The image shows a **protruding sac** containing both **meninges** and **neural tissue (spinal cord)**, which is characteristic of a myelomeningocele, the most severe form of spina bifida. - This neural tube defect results from the **incomplete closure of the neural tube** during embryonic development, leading to neurological deficits. *Spina bifida occulta* - This is a **mild form of spina bifida** where the spinal cord and meninges remain within the spinal canal, and there's no visible sac. - It often presents with subtle signs like a **hairy patch**, dimple, or skin discoloration over the affected area, unlike the large sac seen here. *Dermoid cyst* - A dermoid cyst is a **benign tumor** that contains mature skin structures like hair, sweat glands, and sebaceous glands. - While they can occur anywhere, including the spinal region, they typically do not present as a large, fluid-filled sac protruding from the spine containing neural tissue. *Cystic hygroma* - A cystic hygroma is a **malformation of the lymphatic system**, appearing as a multicystic mass, most commonly found in the neck or axilla. - It is **not associated with neural tube defects** or spinal cord involvement and has a different anatomical location and composition.

Question 1

A child presents with hepatosplenomegaly & cherry red spots in the eye. He also has developmental regression with normal startle response. Likely enzyme deficiency?

Accepted Answer

Sphingomyelinase

Answer

Arylsulfatase A

Answer

Glucocerebrosidase

Answer

Hexosaminidase A

Question 2

A neonate is found to have multiple hypopigmented macules and ash-leaf spots on Wood's lamp examination. Which of the following is the most likely diagnosis?

Accepted Answer

Tuberous Sclerosis

Answer

Sturge-Weber Syndrome

Answer

Neurofibromatosis Type 1

Answer

Incontinentia Pigmenti

Question 3

A 3-year-old child is brought to the emergency room with a generalized seizure following a high-grade fever. What is the first-line drug of choice for seizure control in this acute febrile setting?

Accepted Answer

Diazepam

Answer

Valproate

Answer

Doxycycline / Amoxicillin

Answer

Fosphenytoin

Question 4

A child presents with regression of milestones and has become blind. On examination spasticity is noted in both legs. Fundus examination is given. What is the diagnosis? (Recent NEET Pattern 2016-17)

Accepted Answer

Leukodystrophy

Answer

Poliodystrophy

Answer

Peroxisomal disorder

Answer

Glycogen storage disorder

Question 5

A 12-year-old boy presents with difficulty in noting from blackboard in school. Initially refraction error was considered but visual acuity was normal. He has started complaining of diplopia on watching TV or after studying for long. He takes very long time to finish his meals and his speech becomes very difficult to understand after speaking continuously for few minutes. All tests are indicated for diagnosis except?

Accepted Answer

Anti-TPO antibody

Answer

Edrophonium test

Answer

Single fiber EMG

Answer

Nerve conduction velocity

Question 6

A 12-year-old boy presents with difficulty in reading from the blackboard in school. Initially refraction error was considered but visual acuity was normal. He has started complaining of diplopia on watching TV or after studying for long. He takes very long time to finish his meals and his speech becomes very difficult to understand after speaking continuously for few minutes. Anti-Acetylcholine receptor blocking antibody is detected in high titers. All are done in management except? (Recent NEET Pattern 2016-17)

Accepted Answer

Atropine

Answer

Pyridostigmine

Answer

Steroids

Answer

CT chest

Question 7

A female baby of 6 years presents with the features shown in image. All the following statements regarding this condition are true except:

Accepted Answer

Galactorrhea

Answer

GnRH analog is the drug of choice

Answer

Most common cause is constitutional

Answer

This condition is associated with McCune Albright syndrome

Question 8

Which neural tube defect is shown here:

Accepted Answer

Anencephaly

Answer

Schizencephaly

Answer

Lissencephaly

Answer

Cranioschisis

Question 9

Name the neural tube defect shown here:

Accepted Answer

Cranioschisis

Answer

Anencephaly

Answer

Meningocele

Answer

Iniencephaly

Question 10

Identify the following congenital defect:

Accepted Answer

Myelomeningocele

Answer

Spina bifida occulta

Answer

Dermoid cyst

Answer

Cystic hygroma

Neurology — MCQs

Neurology — MCQs

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