Neurology Practice Questions

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 reveals a cherry-red spot at the macula with surrounding retinal whitening. Which category of brain tissue degeneration does this disorder represent? (Recent NEET Pattern 2016-17)

Poliodystrophy. ***Poliodystrophy*** - 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**. - Cherry-red spot disorders like Tay-Sachs are poliodystrophies, as they predominantly affect gray matter (retinal ganglion cells). - The combination of **regression, spasticity, blindness, and cherry-red spot** points to lysosomal storage disorders. *Leukodystrophy* - **Leukodystrophy** refers to degeneration of the **white matter** of the brain, in contrast to poliodystrophy which primarily affects gray matter. - Cherry-red spot disorders like Tay-Sachs are technically poliodystrophies, as they predominantly affect gray matter (retinal ganglion cells). - The specific fundoscopic finding of cherry-red spot points away from leukodystrophy. *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: The following medical condition is associated with all except:

Charcot-Marie-Tooth disease. ***Charcot-Marie-Tooth disease*** - The image shows features of **congenital vertical talus**, characterized by a rigid rocker-bottom foot deformity due to irreducible dorsal dislocation of the navicular on the talus. - **Charcot-Marie-Tooth disease** is a hereditary neurological disorder affecting peripheral nerves, leading to muscle weakness and sensory loss. It more typically causes **cavovarus deformity** rather than the congenital vertical talus seen here, and is not a recognized association of congenital vertical talus. *Tethered cord syndrome* - **Tethered cord syndrome** is a recognized association of congenital vertical talus, as spinal cord tethering can result in the neurological deficits that contribute to this foot deformity. - It involves the caudal portion of the spinal cord becoming abnormally fixed, often linked to **spina bifida** or other spinal dysraphisms. *Sacral agenesis* - **Sacral agenesis** is a recognized association of congenital vertical talus, as the neurological deficits resulting from sacral dysgenesis can contribute to the development of this foot deformity. - This condition often results in severe neurological deficits in the lower limbs, bowel, and bladder, consistent with the observed limb deformities. *Arthrogryposis* - **Arthrogryposis** is a recognized association of congenital vertical talus, as congenital joint contractures due to fetal akinesia or neuromuscular abnormalities can present with this foot deformity. - The limited movement caused by neurological deficits in conditions like arthrogryposis can lead to the fixed foot deformity characteristic of congenital vertical talus.

Q: Identify the congenital defect seen in this baby.

Encephalocele. ***Encephalocele*** - A **neural tube defect** where brain tissue and/or meninges protrude through a **skull defect**, typically at the **occiput**, presenting as a cystic sac-like mass. - The image shows a characteristic **posterior cystic mass** protruding from the occipital region, most consistent with **occipital encephalocele**; definitive diagnosis requires demonstration of an underlying skull defect (e.g., on imaging), as the external photograph alone cannot confirm intracranial communication. *Craniorachischisis totalis* - The most severe **neural tube defect** with complete failure of neural tube closure involving both **cranial and spinal regions** along the entire length. - Would show extensive exposed **brain and spinal cord tissue** throughout the neural axis, not a localized occipital cystic mass. *Cystic hygroma* - A **lymphatic malformation** presenting as a multicystic, translucent mass typically in the **neck or axilla**. - Appears as **fluid-filled cystic structures** without neural tissue involvement and lacks the occipital location seen in this image. *Cervical meningocele* - A **localized spina bifida** where only **meninges** protrude through a cervical spine defect, forming a sac-like protrusion. - Limited to the **cervical/neck region** without cranial involvement, unlike the occipital location demonstrated here.

Q: A 1-month-old baby brought by the mother complaining of a mass on back associated with CSF leakage and inability of both legs to move ever since birth. Possible diagnosis: (Recent NEET Pattern 2016-17)

Meningomyelocele. ***Meningomyelocele*** - This is a severe form of spina bifida where the **spinal cord and nerves protrude** through an opening in the back, encased in a fluid-filled sac. - The associated symptoms of a **mass on the back**, **CSF leakage** (from the open neural tube defect), and **inability to move both legs** (paralysis from nerve damage) are classic for meningomyelocele. *Pilonidal cyst* - A pilonidal cyst is usually a **small sinus or cyst** found at the top of the natal cleft (buttock crease) and is typically acquired or presents later in life. - While it can cause discharge/wetness if infected, it does **not cause neurological deficits** like leg paralysis in an infant. *Spina bifida occulta* - Spina bifida occulta is a **hidden, closed defect** of the vertebral arch with no protrusion of the spinal cord or meninges through the skin. - It typically does **not present with a visible back mass, CSF leakage, or significant neurological deficits** such as lower limb paralysis in an infant. *Sacrococcygeal teratoma* - A sacrococcygeal teratoma is a **tumor** that develops at the base of the tailbone, often appearing as a large mass. - While it's a mass on the back, it is typically a **solid or cystic tumor** and does not primarily present with CSF leakage or paralysis of the lower limbs.

Q: A child is having difficulty standing up from a sitting position and uses a characteristic maneuver shown in the image below. What is the most likely diagnosis?

Duchenne muscular dystrophy. ***Duchenne muscular dystrophy*** - The image shows a child exhibiting **Gowers' sign**, a classic indicator of proximal muscle weakness, particularly of the lower limbs, characteristic of Duchenne muscular dystrophy. - The child uses their hands to "walk up" their own legs and thighs in order to rise from the floor to a standing position, compensating for weakness of the hip and knee extensors. *Little's disease* - This is an older term primarily referring to **spastic diplegia**, a form of cerebral palsy characterized by increased muscle tone and reflexes, particularly in the lower limbs. - While it causes difficulties with movement, Gowers' sign is not a hallmark; rather, scissoring gait from spasticity would be more typical. *Athetoid cerebral palsy* - This type of cerebral palsy is characterized by **involuntary, slow, writhing movements** (athetosis) that are often worse with attempted voluntary movement. - The image does not depict the characteristic uncontrolled movements of athetosis; instead, it shows a specific compensatory movement due to weakness. *Down syndrome* - Down syndrome is a **chromosomal disorder (trisomy 21)** associated with intellectual disability, characteristic facial features, and various health issues, including congenital heart defects. - While hypotonia (low muscle tone) can be present, the specific Gowers' sign points away from Down syndrome as the primary diagnosis suggested by the image.

Q: Identify the following congenital defect. MRI confirms the presence of a neural placode (spinal cord tissue) within the sac:

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. MRI confirms the presence of a **visible neural placode** (exposed neural tissue) within the sac, confirming the presence of spinal cord elements and distinguishing this lesion from a meningocele, which contains only meninges and CSF. - 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.

Q: CT scan of a child with intellectual disability, recurrent seizures and facial port-wine capillary malformation. Diagnosis is:

Encephalofacial angiomatosis. ***Encephalofacial angiomatosis*** - This syndrome, also known as **Sturge-Weber syndrome**, is characterized by a classic triad of **facial cutaneous angioma (port-wine stain)**, **leptomeningeal angioma**, and **ocular involvement** (e.g., glaucoma). - Neurological manifestations typically include **seizures** and **intellectual disability**, while imaging like CT scans often reveal **gyriform calcifications** in the affected cerebral hemisphere (often described as "railroad track" calcifications). *Epiloia* - This term is an older name for **tuberous sclerosis**, a neurocutaneous syndrome characterized by benign tumors (hamartomas) growing in the brain and other organs. - It lacks the specificity to explain the combination of **facial port-wine capillary malformation**, intellectual disability, seizures, and the classic CT findings seen in Sturge-Weber syndrome. *Louis-Bar syndrome* - Also known as **ataxia-telangiectasia**, this is a rare, neurodegenerative, inherited disease characterized by progressive **cerebellar ataxia**, **oculocutaneous telangiectasias**, and **immunodeficiency**. - The clinical presentation (especially the type of hemangioma and seizures) and typical imaging findings (cerebellar atrophy) are distinct from those described in the question. *Neuronal ceroid lipofuscinoses* - This is a group of **neurodegenerative lysosomal storage disorders** characterized by the intracellular accumulation of **lipopigment** in neurons and other cells. - The primary symptoms include **progressive intellectual and motor deterioration**, **seizures**, and **visual loss**, but they do not typically present with **hemangiomas** or the characteristic gyriform calcifications seen on CT.

Q: Comment on the diagnosis in this 1-year-old child:

Hydrocephalus. ***Hydrocephalus*** - The image shows a significantly **enlarged head circumference** and prominent scalp veins, which are classic signs of increased intracranial pressure due to **hydrocephalus** in an infant. - In infants, open fontanelles and sutures allow for cranial expansion, leading to macrocephaly when cerebrospinal fluid (CSF) accumulates. - Cranial imaging (ultrasonography, CT, or MRI) in hydrocephalus demonstrates **enlarged ventricles with preserved cerebral hemispheric tissue**, which is the key finding that distinguishes hydrocephalus from hydranencephaly. - The neuroimaging in this case demonstrates enlarged ventricles with preserved cerebral hemispheric tissue, confirming hydrocephalus and excluding hydranencephaly. *Hydranencephaly* - This condition involves the **near-total absence of cerebral hemispheres**, which are replaced by a fluid-filled sac. - While it causes macrocephaly, distinguishing hydranencephaly from hydrocephalus cannot be made on the basis of external skull shape alone, as both conditions generally present with an intact skull. **Neuroimaging is required** to make this distinction: hydranencephaly shows absent cerebral hemispheric tissue replaced by fluid, whereas hydrocephalus shows enlarged ventricles with preserved cerebral tissue. *Lissencephaly* - Characterized by a **smooth brain surface lacking gyri and sulci**, resulting in severe developmental delay and seizures. - It does not typically manifest with striking macrocephaly or prominent scalp veins in the same manner as hydrocephalus *Encephalocele* - An encephalocele is a **protrusion of brain tissue and/or meninges** through a defect in the skull. - It presents as a visible sac-like protrusion, typically from the back or front of the head, which is not seen in the provided image.

Q: Which finding is not associated with Sturge-Weber syndrome?

Geographical skull. ***Geographical skull*** ✓ **Correct Answer (Incorrect about the child)** - **Geographical skull** (or "map-like skull") refers to characteristic **lytic lesions of the skull** seen in **Langerhans cell histiocytosis** (histiocytosis X). - This finding is **NOT associated with Sturge-Weber syndrome**, making this the correct answer to the question. - Sturge-Weber syndrome shows **intracranial calcifications** (tramline/railroad track sign) on imaging, not lytic lesions. *Port wine stain* ✗ **Incorrect (This IS present)** - The image shows a prominent **port-wine stain (nevus flammeus)** on the child's face, a classic cutaneous feature of **Sturge-Weber syndrome**. - This capillary vascular malformation typically follows the distribution of the **trigeminal nerve** (V1/V2 branches). *Seizures* ✗ **Incorrect (This IS present)** - **Refractory epilepsy** is a cardinal feature of Sturge-Weber syndrome, resulting from underlying **leptomeningeal angiomatosis** and progressive cortical damage. - The combination of facial **port-wine stain** and **seizures** is highly suggestive of this neurocutaneous syndrome. *Buphthalmos* ✗ **Incorrect (This CAN be present)** - **Buphthalmos** ("ox eye") refers to an enlarged eyeball associated with **congenital glaucoma**. - **Glaucoma** occurs in approximately **30-70%** of Sturge-Weber patients, particularly when the port-wine stain involves the **upper eyelid** (V1 distribution); buphthalmos can occur from congenital glaucoma as an associated possible finding in Sturge-Weber syndrome, but is not demonstrated in the supplied photograph.

Question 1

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 2

A child presents with regression of milestones and has become blind. On examination spasticity is noted in both legs. Fundus examination reveals a cherry-red spot at the macula with surrounding retinal whitening. Which category of brain tissue degeneration does this disorder represent? (Recent NEET Pattern 2016-17)

Accepted Answer

Poliodystrophy

Answer

Leukodystrophy

Answer

Peroxisomal disorder

Answer

Glycogen storage disorder

Question 3

The following medical condition is associated with all except:

Accepted Answer

Charcot-Marie-Tooth disease

Answer

Tethered cord syndrome

Answer

Sacral agenesis

Answer

Arthrogryposis

Question 4

Identify the congenital defect seen in this baby.

Accepted Answer

Encephalocele

Answer

Craniorachischisis totalis

Answer

Cystic hygroma

Answer

Cervical meningocele

Question 5

A 1-month-old baby brought by the mother complaining of a mass on back associated with CSF leakage and inability of both legs to move ever since birth. Possible diagnosis: (Recent NEET Pattern 2016-17)

Accepted Answer

Meningomyelocele

Answer

Sacrococcygeal teratoma

Answer

Spina bifida occulta

Answer

Pilonidal cyst

Question 6

A child is having difficulty standing up from a sitting position and uses a characteristic maneuver shown in the image below. What is the most likely diagnosis?

Accepted Answer

Duchenne muscular dystrophy

Answer

Down syndrome

Answer

Little's disease

Answer

Athetoid cerebral palsy

Question 7

Identify the following congenital defect. MRI confirms the presence of a neural placode (spinal cord tissue) within the sac:

Accepted Answer

Myelomeningocele

Answer

Spina bifida occulta

Answer

Cystic hygroma

Answer

Dermoid cyst

Question 8

CT scan of a child with intellectual disability, recurrent seizures and facial port-wine capillary malformation. Diagnosis is:

Accepted Answer

Encephalofacial angiomatosis

Answer

Neuronal ceroid lipofuscinoses

Answer

Louis-Bar syndrome

Answer

Epiloia

Question 9

Comment on the diagnosis in this 1-year-old child:

Accepted Answer

Hydrocephalus

Answer

Encephalocele

Answer

Lissencephaly

Answer

Hydranencephaly

Question 10

Which finding is not associated with Sturge-Weber syndrome?

Accepted Answer

Geographical skull

Answer

Port wine stain

Answer

Seizures

Answer

Buphthalmos

Neurology — MCQs

Neurology — MCQs

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