Neurology Practice Questions

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, which is pathognomonic for **occipital encephalocele**. *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 wetness 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**, **wetness** (due to neurogenic bladder/bowel), 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* - Spina bifida is a broader term for a birth defect where there is **incomplete closing of the backbone and membranes around the spinal cord**. - While meningomyelocele is a type of spina bifida, and the symptoms fit, **meningomyelocele is a more specific and accurate diagnosis** given the description of a protruding mass and severe neurological deficits. *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 wetness due to neurological incontinence 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's posture, with prominent shoulders and an attempt to use their hands to "walk up" their body to stand, is consistent with the progression of muscle weakness in this condition. *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:

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.

Q: CT scan of a child with intellectual disability, recurrent seizures and hemangioma. 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). *Epilolia* - This term is a general and somewhat archaic description for a **convulsive disorder**, not a specific syndrome characterized by the presented clinical and imaging findings. - It lacks the specificity to explain the combination of **hemangioma**, intellectual disability, seizures, and the classic CT findings. *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. *Hydranencephaly* - This condition involves the **near-total absence of cerebral hemispheres**, which are replaced by a fluid-filled sac. - While it causes macrocephaly, the image depicts a largely intact skull shape, suggesting fluid accumulation rather than complete cerebral agenesis. *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: One-year-old child with refractory epilepsy. Which is incorrect about the child in picture given below?

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), indicating potential ocular involvement.

Q: A 7-year-old girl is easily distracted in class and exhibits poor scholastic performance. EEG shows? (AIIMS May 2014)

Absence seizures. ***Absence seizures*** - The clinical presentation of a young girl who is **easily distracted** and has **poor scholastic performance** is highly suggestive of absence seizures. These are brief episodes of impaired consciousness often mistaken for daydreaming. - The EEG image shows a characteristic **generalized 3-Hz spike-and-wave discharge** pattern, which is the hallmark of typical absence seizures. *Myoclonic seizures* - Myoclonic seizures involve **sudden, brief muscle jerks** or twitches, which are not described in the patient's presentation. - The EEG in myoclonic seizures typically shows **polyspike-and-wave discharges**, not the 3-Hz spike-and-wave pattern seen here. *Atonic seizures* - Atonic seizures, also known as **drop attacks**, cause a sudden loss of muscle tone leading to falls, which is not consistent with the described symptoms. - While EEG may show generalized spike-and-wave activity or diffuse slow waves during an atonic seizure, the 3-Hz rhythmic pattern is less typical for this seizure type. *Myoclonia* - Myoclonia refers to **involuntary, sudden muscle contractions**, which can be physiological (e.g., hiccups, sleep starts) or pathological. - While myoclonic seizures are a type of myoclonia, the term "myoclonia" alone is too general and does not specifically align with the classic EEG pattern and subtle clinical signs of absence seizures.

Q: The EEG of an infant with early morning jerks shows?

Hypsarrhythmia. ***Hypsarrhythmia*** - This EEG pattern is characterized by **chaotic, high-amplitude, irregular slow waves and spikes originating from multiple foci**. It is often seen in infants with infantile spasms, which manifest as **early morning jerks** or subtle head nods. - The provided image clearly shows a disorganised, high-amplitude, and multifocal discharge pattern consistent with hypsarrhythmia. *Burst and suppression pattern* - This pattern consists of alternating periods of **high-amplitude, fast activity (bursts)** and periods of **relative electrical inactivity (suppression)**. - It is typically associated with severe encephalopathy and some forms of epilepsy in infants, but not primarily with infantile spasms. *Periodic spike and wave pattern* - This pattern involves **repetitive, rhythmic sequences of a spike followed by a slow wave**, usually occurring every 1-3 seconds. - It is classically seen in **Lennox-Gastaut Syndrome**, a severe childhood epilepsy syndrome, rather than the early morning jerks characteristic of infantile spasms. *Rademecker complex* - Also known as **triphasic waves**, these are specific EEG abnormalities characterized by a typical three-phase morphology (positive-negative-positive or negative-positive-negative). - They are often associated with **metabolic encephalopathies**, particularly hepatic encephalopathy, and are not characteristic of infantile spasms.

Q: Comment on the diagnosis based on the image shown below. (Recent NEET Pattern 2016-17)

Plexiform neurofibromatosis. ***Plexiform neurofibromatosis*** - The image exhibits significant facial disfigurement with **nodular and soft tissue overgrowth**, particularly around the eye and midface, consistent with a **plexiform neurofibroma**. - This presentation is a classic feature of **Neurofibromatosis Type 1 (NF1)**, where plexiform neurofibromas can be extensive and cause severe cosmetic and functional issues. *Proteus syndrome* - Proteus syndrome is characterized by **asymmetric overgrowth** of various tissues including bone, skin, and fat, often leading to patchy or mosaic patterns of disproportionate growth. - While it involves overgrowth, the specific appearance in the image with its nodular, bag-like masses is more typical of plexiform neurofibroma than the broader, more generalized overgrowth seen in Proteus syndrome. *Rhabdomyosarcoma* - Rhabdomyosarcoma is a **malignant tumor of skeletal muscle**, typically presenting as a rapidly growing mass. - The lesions in the image appear more chronic and diffuse, lacking the aggressive, distinct tumoral characteristics of a typical rhabdomyosarcoma. *Malignant fibrous histiocytosis* - Malignant fibrous histiocytosis (now often classified under **undifferentiated pleomorphic sarcoma**) is a **high-grade soft tissue sarcoma** primarily affecting older adults, typically presenting as a rapidly enlarging mass. - Similar to rhabdomyosarcoma, this is a distinct malignant tumor and does not match the diffuse, chronic, and somewhat benign-appearing overgrowth seen in the picture.

Question 1

Identify the congenital defect seen in this baby.

Accepted Answer

Encephalocele

Answer

Craniorachischisis totalis

Answer

Cystic hygroma

Answer

Cervical meningocele

Question 2

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

Accepted Answer

Meningomyelocele

Answer

Pilonidal cyst

Answer

Spina bifida

Answer

Sacrococcygeal teratoma

Question 3

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

Little's disease

Answer

Athetoid cerebral palsy

Answer

Down syndrome

Question 4

Identify the following congenital defect:

Accepted Answer

Myelomeningocele

Answer

Spina bifida occulta

Answer

Dermoid cyst

Answer

Cystic hygroma

Question 5

CT scan of a child with intellectual disability, recurrent seizures and hemangioma. Diagnosis is:

Accepted Answer

Encephalofacial angiomatosis

Answer

Epilolia

Answer

Louis-Bar syndrome

Answer

Neuronal ceroid lipofuscinoses

Question 6

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

Accepted Answer

Hydrocephalus

Answer

Hydranencephaly

Answer

Lissencephaly

Answer

Encephalocele

Question 7

One-year-old child with refractory epilepsy. Which is incorrect about the child in picture given below?

Accepted Answer

Geographical skull

Answer

Port wine stain

Answer

Seizures

Answer

Buphthalmos

Question 8

A 7-year-old girl is easily distracted in class and exhibits poor scholastic performance. EEG shows? (AIIMS May 2014)

Accepted Answer

Absence seizures

Answer

Myoclonic seizures

Answer

Atonic seizures

Answer

Myoclonia

Question 9

The EEG of an infant with early morning jerks shows?

Accepted Answer

Hypsarrhythmia

Answer

Burst and suppression pattern

Answer

Periodic spike and wave pattern

Answer

Rademecker complex

Question 10

Comment on the diagnosis based on the image shown below. (Recent NEET Pattern 2016-17)

Accepted Answer

Plexiform neurofibromatosis

Answer

Proteus syndrome

Answer

Rhabdomyosarcoma

Answer

Malignant fibrous histiocytosis

Neurology — MCQs

Neurology — MCQs

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