FMGE 2026 - Pediatrics Practice Questions

Q: Crumpled tissue paper appearance.Patient with hepatosplenomegaly?

Gaucher disease. ***Gaucher disease*** - Characterized by the presence of **Gaucher cells** in the bone marrow or spleen, which are macrophages containing **glucocerebroside** that appear as **wrinkled tissue paper** or **crumpled tissue paper**. - It is an **autosomal recessive** lysosomal storage disease caused by a deficiency of the enzyme **glucocerebrosidase**, clinically manifesting with **hepatosplenomegaly**, **pancytopenia**, and **bone pain**. *Pompe disease* - Caused by a deficiency in **alpha-1,4-glucosidase** (acid maltase), leading to the accumulation of **glycogen** in lysosomes. - Primarily presents with **cardiomegaly** and **hypotonia** in infants, rather than the specific cytological finding of crumpled tissue paper. *Niemann–Pick disease* - Associated with **sphingomyelinase deficiency**, resulting in the accumulation of **sphingomyelin** within lysosomes. - Pathologically, it is characterized by the presence of **foam cells** (lipid-laden macrophages) rather than tissue paper cytoplasm; patients often present with hepatosplenomegaly and a **cherry-red spot** on the macula. *Tay–Sachs disease* - Caused by a deficiency of **hexosaminidase A**, leading to the accumulation of **GM2 ganglioside** in neurons. - It presents primarily with **neurodegeneration** (e.g., loss of milestones, exaggerated startle response) and a **cherry-red spot** on the exam, but typically lacks the hepatosplenomegaly seen in Gaucher disease.

Q: An infant presents with features of premature ageing, growth failure, and early-onset atherosclerosis. The child has a characteristic progeroid appearance. Which of the following genes is most commonly associated with this condition? Options:

LMNA gene. ***LMNA gene*** - Mutations in the **LMNA gene** lead to the production of **progerin**, a defective form of **lamin A** protein, which causes **Hutchinson-Gilford progeria syndrome**. - This condition is characterized clinically by **failure to thrive**, **alopecia**, **sclerodermatous skin**, and early-onset **atherosclerosis** often leading to myocardial infarction or stroke. *WRN gene* - Mutations in the **WRN gene** (encoding a **DNA helicase**) cause **Werner syndrome**, which presents as **adult-onset** progeria rather than infantile. - Werner syndrome patients typically present in late adolescence or early adulthood with short stature, **cataracts**, and premature graying, lacking the early infantile onset of Hutchinson-Gilford. *C-KIT gene* - Mutations in the **C-KIT gene** (encoding a **tyrosine kinase receptor**) are primarily associated with **gastrointestinal stromal tumors (GIST)** and **piebaldism**. - They are not associated with progeroid syndromes or premature aging, but rather with defects in hematopoiesis and melanogenesis. *TP53 gene* - Mutations in the **TP53 gene** are strongly associated with **Li-Fraumeni syndrome**, which predisposes patients to a wide spectrum of childhood and adult-onset **cancers**. - While p53 has roles in **cellular senescence**, it is not the primary causative gene for classic progeroid syndromes like Hutchinson-Gilford.

Q: A 2-month-old infant is brought to the pediatric clinic with a history of high-pitched inspiratory stridor that began shortly after birth. The mother notes that the sound is most noticeable when the baby is crying or feeding. Which of the following is true regarding the diagnosis?

Omega sign improves in the prone position. ***Omega sign improves in the prone position*** - The clinical presentation of chronic, high-pitched inspiratory stridor starting shortly after birth, which worsens with agitation or feeding, is classic for **laryngomalacia**. The hallmark finding on laryngoscopy is an omega-shaped (Ω) **epiglottis** that collapses inward during inspiration; placing the infant in a **prone position** often relieves airway obstruction by allowing the supraglottic tissues to fall forward. *Thumb sign improves in the supine position* - The **thumb sign** is a classic radiographic finding on a lateral neck X-ray indicative of **epiglottitis**, a medical emergency involving inflammation of the epiglottis. Laryngomalacia is a chronic, benign condition, whereas epiglottitis presents with acute onset drooling, tripod positioning, and fever, which are not described in this infant. *Steeple sign is characteristic* - The **steeple sign** seen on AP neck X-rays is diagnostic for **croup** (laryngotracheobronchitis), which typically presents with a barking cough and is caused by parainfluenza virus. This condition usually occurs in older infants and typically presents with acute symptoms rather than a chronic stridor persisting since birth. *Cherry-red epiglottis sign is characteristic* - A **cherry-red epiglottis** observed during examination is a specific sign of acute, bacterial **epiglottitis**, usually caused by *Haemophilus influenzae* type b. This condition presents with rapidly progressive respiratory distress and dysphagia, and looking in the throat is strictly contraindicated due to the risk of precipitating total airway obstruction.

Question 1

Crumpled tissue paper appearance.Patient with hepatosplenomegaly?

Accepted Answer

Gaucher disease

Answer

Pompe disease

Answer

Niemann –Pick disease

Answer

Tay–Sachs disease

Question 2

An infant presents with features of premature ageing, growth failure, and early-onset atherosclerosis. The child has a characteristic progeroid appearance. Which of the following genes is most commonly associated with this condition? Options:

Accepted Answer

LMNA gene

Answer

WRN gene

Answer

C-KIT gene

Answer

TP53 gene

Question 3

A 2-month-old infant is brought to the pediatric clinic with a history of high-pitched inspiratory stridor that began shortly after birth. The mother notes that the sound is most noticeable when the baby is crying or feeding. Which of the following is true regarding the diagnosis?

Accepted Answer

Omega sign improves in the prone position

Answer

Thumb sign improves in the supine position

Answer

Steeple sign is characteristic

Answer

Cherry-red epiglottis sign is characteristic

FMGE 2026 — Pediatrics