Neurology Practice Questions

Q: Which of the following is NOT a feature of Rett's syndrome?

Focal Convulsions. ***Focal Convulsions*** - While **seizures occur in 60-80% of individuals with Rett syndrome**, focal convulsions are **not part of the diagnostic criteria** for the condition. - When seizures occur in Rett syndrome, they are typically **mixed types** (generalized tonic-clonic, myoclonic, or absence), though focal seizures can occur, they are less characteristic. - The **core diagnostic features** of Rett syndrome focus on developmental regression, hand stereotypies, and acquired microcephaly rather than seizure patterns. *Microcephaly* - **Acquired progressive microcephaly** (deceleration of head growth) is a **major diagnostic criterion** for Rett syndrome, typically appearing between 5 months and 4 years of age. - This reflects underlying **neurological regression** and is one of the cardinal features distinguishing Rett syndrome from other developmental disorders. *Regression of milestones* - **Loss of acquired purposeful hand skills and spoken language** is the hallmark and **essential diagnostic criterion** of Rett syndrome. - After **6-18 months of normal development**, affected children undergo a distinctive regression phase, losing previously acquired skills—this defines the condition. *Cardiac arrhythmias* - **Prolonged QT interval and cardiac arrhythmias** are well-documented features of Rett syndrome, occurring in a significant proportion of patients. - These contribute to increased risk of **sudden unexpected death in Rett syndrome (SUDRS)** and require cardiac monitoring.

Q: What is the recurrence rate of febrile seizures?

30-50%. ***30-50%*** - The recurrence rate of febrile seizures is approximately **30-50%**, with an average of about **33% (one-third)** of children experiencing another febrile seizure. - The rate varies with age: children ** 12 months** have approximately **20-30% risk**. - Other risk factors for recurrence include a **lower temperature threshold** for seizures, a **family history** of febrile seizures, and a **short duration** between fever onset and seizure occurrence. *10-20%* - This range is **too low** for the overall recurrence rate of febrile seizures. - While this might represent recurrence in older children with no risk factors, it does not reflect the average population risk. *20-30%* - This percentage represents a **lower estimate** than the generally accepted overall recurrence rate. - This range may apply to children **>12 months** at first seizure, but the overall average is higher at approximately **33%**. *50-70%* - This range is **too high** for the overall recurrence rate of febrile seizures. - While children with **multiple risk factors** (very young age, family history, low fever threshold) may approach **50%** recurrence, rates of 70% are not supported by evidence.

Q: A 10-month-old infant was brought with complaints of jerking movements of limbs towards the body. On examination, there is regression of developmental milestones. Electroencephalogram shows hypsarrhythmia. What is the most appropriate first-line treatment?

Adrenocorticotropic hormone (ACTH). ***Adrenocorticotropic hormone (ACTH)*** - **ACTH** is considered the **first-line treatment** for infantile spasms due to its high efficacy in controlling spasms and improving developmental outcomes. - Its mechanism involves directly modulating **cortical excitability** and neurotransmitter function. *Phenytoin* - **Phenytoin** is primarily used for **focal and tonic-clonic seizures** but is generally ineffective for infantile spasms. - Its mechanism of action involves **blocking voltage-gated sodium channels**, which is not the primary pathophysiology target for infantile spasms. *Levetiracetam* - **Levetiracetam** is an **adjunctive therapy** for various seizure types and can be used in some cases of infantile spasms, but it is not typically the first-line treatment. - It acts by binding to the **synaptic vesicle protein 2A (SV2A)**, modulating neurotransmitter release. *Phenobarbitone* - **Phenobarbitone** is an older anticonvulsant that can be used for various seizure types, including some forms of infantile epilepsy, but it is **not the preferred first-line agent** for infantile spasms due to potential side effects and lower efficacy compared to ACTH. - It works by **enhancing GABAergic inhibition** in the brain.

Q: Which of the following is not a known cause of neuroregression in children?

ADHD. ***ADHD*** - **Attention-deficit/hyperactivity disorder (ADHD)** is a neurodevelopmental disorder characterized by persistent patterns of inattention, hyperactivity, and impulsivity. It is **not** a cause of neuroregression. - While ADHD can impact cognitive and behavioral functioning, it does not involve a loss of previously acquired developmental milestones or skills. *Wilson's disease* - **Wilson's disease** is an inherited disorder that causes **copper accumulation** in organs, particularly the liver and brain. - Neurological symptoms, including **neuroregression**, can occur due to copper toxicity in the central nervous system. *Vitamin B12 deficiency* - **Vitamin B12 deficiency** can lead to neurological complications such as **subacute combined degeneration** of the spinal cord and peripheral neuropathy. - In children, severe or prolonged deficiency can impair brain development and lead to **developmental regression**. *Ataxia telangiectasia* - **Ataxia telangiectasia** is a rare, neurodegenerative, inherited disease that affects multiple body systems. - It is characterized by progressive **cerebellar ataxia**, leading to **neuroregression** and intellectual disability over time.

Q: Which of the following statements about encephalocoele is false?

Common in the parietal region. ***Common in the parietal region*** - This statement is **false** because encephaloceles are **rarely found in the parietal region** (only 10-15% of cases). - **Occipital encephaloceles** are most common in Western populations (75-80%), while **frontal/sincipital encephaloceles** are most common in Southeast Asia including India (40-60%). - **Parietal encephaloceles** represent only a small minority of cases globally, making this statement incorrect. *It is a neural tube defect* - **Encephalocele** is indeed a type of **neural tube defect (NTD)**, resulting from incomplete closure of the neural tube during embryonic development. - Specifically, it involves a defect in the skull that allows for protrusion of brain tissue and/or meninges. *Can be associated with hydrocephalus* - **Hydrocephalus**, or the accumulation of cerebrospinal fluid in the brain, is a known complication and associated condition with encephaloceles. - The abnormal brain development and structural defects can disrupt normal CSF flow and absorption, particularly with posterior encephaloceles. *It is protrusion of neural tissue through a defect* - This is the defining characteristic of an **encephalocele**: the **herniation of intracranial contents**, such as brain tissue, meninges, or both, through a congenital **bony defect** in the skull. - The contents of the sac can vary (meninges only = meningocele; brain tissue included = meningoencephalocele), influencing clinical presentation and prognosis.

Q: A young child presents with episodes of inappropriate laughter. What is the most likely diagnosis?

Hypothalamic hamartoma. ***Hypothalamic hamartoma*** - **Gelastic seizures**, characterized by episodes of inappropriate laughter, are the hallmark symptom of a **hypothalamic hamartoma**. - These benign brain malformations are located near the **mammillary bodies** and can disrupt normal brain function, leading to these characteristic seizures. *Tetralogy of Fallot* - This is a **congenital heart defect** involving four specific abnormalities, leading to cyanosis. - Its symptoms include **"tet spells"** (bluish skin during crying or feeding), shortness of breath, and clubbing of fingers, not inappropriate laughter. *Nitrous oxide poisoning* - Inhalation of nitrous oxide can lead to euphoria, dizziness, and motor incoordination, but it does not typically cause recurrent episodes of involuntary, inappropriate laughter as a primary neurological symptom. - Chronic exposure can cause **vitamin B12 deficiency** and neurological dysfunction like neuropathy. *Seizure disorder* - While inappropriate laughter can be a symptom of a seizure (gelastic seizure), a general diagnosis of "seizure disorder" is too broad and does not pinpoint the specific, highly localized cause implied by this particular presentation. - The type of seizure (gelastic) specifically points to a lesion in the **hypothalamus**.

Q: What is the significance of the persistence of the asymmetric tonic neck reflex in a 9-month-old infant?

Increased muscle tone. ***Increased muscle tone*** - The **asymmetric tonic neck reflex (ATNR)** should integrate by **6 months of age**, and its persistence beyond this period is a sign of **neurological dysfunction**. - Persistent primitive reflexes, including ATNR, are often associated with **upper motor neuron lesions** and can manifest as increased muscle tone or **spasticity**. *Decreased muscle tone* - **Decreased muscle tone**, or **hypotonia**, is typically associated with **lower motor neuron lesions** or certain genetic conditions, not the persistence of primitive reflexes. - While some neurological conditions can cause hypotonia, persistent ATNR is a hallmark of problems leading to **hypertonia**. *Normal phenomenon* - The persistence of the ATNR beyond **6 months of age** is considered abnormal and indicates a potential developmental delay or neurological issue. - In a **9-month-old**, the reflex should have fully integrated, and its presence warrants further investigation. *None of the options* - As the persistence of the ATNR is indeed a significant finding, associated with increased muscle tone, this option is incorrect.

Q: What is correct about febrile seizures

Normal EEG. ***Normal EEG*** - An **electroencephalogram (EEG)** is generally **not recommended** after a simple febrile seizure because these seizures are due to the brain's response to fever, not an underlying epileptic disorder. - The **EEG typically appears normal** following a simple febrile seizure, as there is no intrinsic cerebral pathology to detect. - Simple febrile seizures are benign events that do not require routine EEG investigation. *Focal deficits* - **Focal neurological deficits** (e.g., weakness on one side of the body) are **not characteristic** of **simple febrile seizures** and would suggest a more complex neurological issue or an underlying etiology. - The presence of focal deficits would prompt further investigation for complex febrile seizures or other neurological conditions. *Repeated seizure* - While **recurrence of febrile seizures** is common (about 30-35% of children experience a second seizure), this refers to a **risk factor** for recurrence rather than a defining characteristic of febrile seizures. - Risk factors for recurrence include young age at first seizure, family history of febrile seizures, low fever at onset, and brief duration between fever onset and seizure. *Abnormal EEG* - An **abnormal EEG** in the context of a febrile seizure would raise concerns for an **underlying epileptic syndrome** or other neurological pathology, which is not typical for **simple febrile seizures**. - Routine EEG is not indicated for simple febrile seizures as it is unlikely to show abnormalities and is not predictive of future epilepsy.

Q: Treatment of simple febrile convulsion is based on

Control of fever. ***Control of fever*** - Among the given options, **control of fever** is the most appropriate answer as it represents the **immediate supportive care** for a child with a simple febrile seizure. - Management includes using antipyretics like **paracetamol** or **ibuprofen** to reduce fever and improve comfort. - **Important note:** While fever control is good supportive care, evidence shows that antipyretics do **NOT prevent recurrence** of febrile seizures. The actual cornerstone of management is **reassurance and parental education**. - According to AAP guidelines, simple febrile seizures are benign, self-limited events that require no specific anticonvulsant treatment. *Rectal diazepam* - **Rectal diazepam** is used for **acute termination** of prolonged seizures (>5 minutes) or as rescue therapy for recurrent episodes. - It is NOT indicated for routine management of simple febrile seizures, which typically last <15 minutes and resolve spontaneously. - May be prescribed for home use in select cases with recurrent seizures. *CSF finding* - **CSF analysis** is a **diagnostic procedure**, not a treatment basis. - It is indicated only when there is clinical suspicion of meningitis or meningoencephalitis (e.g., altered sensorium, meningeal signs, complex seizure features). - NOT routinely required for simple febrile seizures in well-appearing children. *Blood reports* - **Blood investigations** are diagnostic, not treatment-guiding for simple febrile seizures. - They may be considered to identify the source of fever or rule out electrolyte abnormalities, but are not the basis of seizure management itself. - Simple febrile seizures do not require routine laboratory workup.

Question 1

Which of the following is NOT a feature of Rett's syndrome?

Accepted Answer

Focal Convulsions

Answer

Cardiac arrhythmias

Answer

Microcephaly

Answer

Regression of milestones

Question 2

What is the recurrence rate of febrile seizures?

Accepted Answer

30-50%

Answer

10-20%

Answer

20-30%

Answer

50-70%

Question 3

An 8-year old child has difficulty walking and getting up from a squatting position. A muscle    biopsy was done and is as shown in the image. Which of the following is true about this    condition?

Accepted Answer

Death occurs in the 3rd decade for certain types of muscular dystrophy.

Answer

Previous history of viral prodrome

Answer

It is a mitochondrial storage disorder

Answer

Early treatment has excellent prognosis

Question 4

A 10-month-old infant was brought with complaints of jerking movements of limbs towards the body. On examination, there is regression of developmental milestones. Electroencephalogram shows hypsarrhythmia. What is the most appropriate first-line treatment?

Accepted Answer

Adrenocorticotropic hormone (ACTH)

Answer

Phenytoin

Answer

Levetiracetam

Answer

Phenobarbitone

Question 5

Which of the following is not a known cause of neuroregression in children?

Accepted Answer

ADHD

Answer

Vitamin B12 deficiency

Answer

Ataxia telangiectasia

Answer

Wilson's disease

Question 6

Which of the following statements about encephalocoele is false?

Accepted Answer

Common in the parietal region

Answer

It is a neural tube defect

Answer

Can be associated with hydrocephalus

Answer

It is protrusion of neural tissue through a defect

Question 7

A young child presents with episodes of inappropriate laughter. What is the most likely diagnosis?

Accepted Answer

Hypothalamic hamartoma

Answer

Tetralogy of Fallot

Answer

Nitrous oxide poisoning

Answer

Seizure disorder

Question 8

What is the significance of the persistence of the asymmetric tonic neck reflex in a 9-month-old infant?

Accepted Answer

Increased muscle tone

Answer

Decreased muscle tone

Answer

Normal phenomenon

Answer

None of the options

Question 9

What is correct about febrile seizures

Accepted Answer

Normal EEG

Answer

Focal deficits

Answer

Repeated seizure

Answer

Abnormal EEG

Question 10

Treatment of simple febrile convulsion is based on

Accepted Answer

Control of fever

Answer

Rectal diazepam

Answer

CSF finding

Answer

Blood reports

Neurology — MCQs

Neurology — MCQs

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