FMGE 2026 - Pediatrics PYQs Practice Questions

Q: A child is evaluated for cardiomegaly and features of heart failure. Laboratory investigations show maltase deficiency. What is the most likely diagnosis?

Pompe disease. ***Pompe disease*** - Also known as **Glycogen Storage Disease Type II**, this condition is caused by a deficiency of the lysosomal enzyme **acid alpha-glucosidase (acid maltase)**, which leads to glycogen accumulation in tissues. - It is classically characterized by severe **cardiomegaly** and **hypertrophic cardiomyopathy** in infancy, often leading to early heart failure, alongside **hypotonia** and macroglossia. *McArdle disease* - This is **Glycogen Storage Disease Type V**, caused by a deficiency of **muscle phosphorylase**, which typically presents in adolescence or adulthood. - Patients characteristically suffer from **exercise intolerance**, **muscle cramps**, and **myoglobinuria** rather than cardiac involvement. *Von Gierke disease* - This is **Glycogen Storage Disease Type I**, resulting from a deficiency of **glucose-6-phosphatase**. - Clinical features are dominated by **severe fasting hypoglycemia**, **hepatomegaly**, and **lactic acidosis**, not primary cardiomyopathy. *Cori disease* - This is **Glycogen Storage Disease Type III**, caused by a deficiency of the **debranching enzyme**. - It presents primarily with **hepatomegaly**, growth retardation, and variable **myopathy**, but it generally lacks the severe hypertrophic cardiomyopathy seen in Pompe disease. [Practice more Pediatrics PYQs on OnCourse]

Q: What is the characteristic murmur of a ventricular septal defect detected incidentally in a child?

Pansystolic murmur. ***Pansystolic murmur*** - A **ventricular septal defect (VSD)** is classically associated with a harsh, loud **pansystolic (holosystolic) murmur** heard best at the left lower sternal border. - This sound is generated by the left-to-right shunting of blood across the **interventricular septum** throughout the entirety of ventricular systole. *Ejection systolic murmur* - Typically heard in conditions like **aortic stenosis** or **pulmonary stenosis**, where blood is forced through a narrowed valve during systolic ejection. - Unlike the VSD murmur, this usually exhibits a crescendo-decrescendo pattern and peaks mid-systole. *Late systolic murmur* - This finding is most characteristic of **mitral valve prolapse**, often preceded by a **mitral click**. - It does not fit the hemodynamic flow dynamics of a small-to-moderate sized VSD, which allows flow throughout the entire phase of ventricular contraction. *Mid diastolic murmur* - Often associated with conditions causing significant **mitral stenosis** or high-flow states across the mitral valve (like large ASDs). - This murmur represents flow across the atrioventricular valves during filling, not the systolic shunt across the ventricular septum. [Practice more Pediatrics PYQs on OnCourse]

Q: A child presents with fever, conjunctival redness, and bluish -white spots on the buccal mucosa. What is the most likely diagnosis?

Measles. ***Measles*** - The presence of **Koplik spots** (bluish-white spots on the buccal mucosa) is a pathognomonic feature of **measles** (rubeola) infection. - The clinical triad of **cough, coryza, and conjunctivitis** (the 3 Cs) alongside high fever strongly supports this diagnosis. *Mumps* - Primarily presents with **parotitis** (swelling and tenderness of the parotid glands), not conjunctival redness or specific buccal spots. - It is caused by the **mumps virus**, which typically involves glandular structures like salivary glands, testes, or ovaries. *Chickenpox* - Characterized by a **vesicular rash** that appears in different stages (macules, papules, vesicles, crusts) simultaneously. - The hallmark is a **pruritic rash** that starts centrally and spreads peripherally, distinguishable from the morbilliform rash of measles. *Rubella* - Also known as German measles, it typically features a **fine, pink maculopapular rash** and marked **lymphadenopathy** (especially postauricular and suboccipital). - While it presents with fever, it lacks the classic **Koplik spots** seen in true measles and is generally a milder, shorter-lived illness. [Practice more Pediatrics PYQs on OnCourse]

Q: Due to persistence of the Moro reflex, a child will have difficulty achieving which of the following developmental milestones?

Rolling over. ***Rolling over*** - The persistent **Moro reflex** causes involuntary abduction and extension of the arms, which interferes with the integration of motor patterns required for independent **rolling over**. - Typically, the Moro reflex integrates (disappears) by **3 to 4 months** of age, which coincides closely with the timing of when an infant should be mastering the skill of rolling. *Neck holding* - **Neck holding** (or head control) is typically achieved by **2 to 3 months** of age, which overlaps with the later stages of the Moro reflex persistence. - Because the Moro reflex is triggered by a sudden change in head position or support, it primarily affects limb movement rather than the primary strengthening of the neck muscles required for head control. *Sitting with support* - **Sitting with support** is generally achieved around **5 to 6 months** of age, well after the Moro reflex should have integrated. - Persistence of the reflex at this age would indicate a severe **neurological disorder** rather than just a simple delay in motor development. *Sitting without support* - **Sitting without support** is a later developmental milestone, typically reached by **7 to 8 months** of age. - By this stage, the Moro reflex should have long since disappeared; if present, it is pathognomonic for **cerebral palsy** or other significant brain injury, not merely a hurdle for this specific milestone. [Practice more Pediatrics PYQs on OnCourse]

Q: A newborn has blue skin, heart rate less than 80/min, absent reflexes, and irregular respiration. What is the Apgar score?

2. ***2*** - The score is calculated as follows: Appearance (blue color) = 0, Pulse (<100 bpm) = 1, Grimace (no response) = 0, Activity (limp) = 0, and Respiration (irregular/slow) = 1, totaling **2**. - An Apgar score of 2 indicates that the newborn is experiencing **severe depression** and requires immediate **resuscitative measures**. *1* - A score of 1 would imply even more severe compromise, likely with an absent heart rate or complete apnea. - Scoring systems are strictly additive based on the **five categories** of Appearance, Pulse, Grimace, Activity, and Respiration. *4* - A score of 4 would require better scores, such as some **flexion of extremities** and a stronger heart rate. - Infants with a score of 4 are typically considered to have **moderate depression** compared to this case. *5* - A score of 5 suggests that the neonate is breathing regularly or has a higher heart rate and better muscle tone. - Five is within the range that might improve with **tactile stimulation** and routine care, unlike score 2 cases needing active resuscitation. [Practice more Pediatrics PYQs on OnCourse]

Question 1

A child is evaluated for cardiomegaly and features of heart failure. Laboratory investigations show maltase deficiency. What is the most likely diagnosis?

Accepted Answer

Pompe disease

Answer

McArdle disease

Answer

Von Gierke disease

Answer

Cori disease

Question 2

What is the characteristic murmur of a ventricular septal defect detected incidentally in a child?

Accepted Answer

Pansystolic murmur

Answer

Ejection systolic murmur

Answer

Late systolic murmur

Answer

Mid diastolic murmur

Question 3

A child presents with fever, conjunctival redness, and bluish -white spots on the buccal mucosa. What is the most likely diagnosis?

Accepted Answer

Measles

Answer

Mumps

Answer

Chickenpox

Answer

Rubella

Question 4

Due to persistence of the Moro reflex, a child will have difficulty achieving which of the following developmental milestones?

Accepted Answer

Rolling over

Answer

Neck holding

Answer

Sitting with support

Answer

Sitting without support

Question 5

A newborn has blue skin, heart rate less than 80/min, absent reflexes, and irregular respiration. What is the Apgar score?

Accepted Answer

2

Answer

1

Answer

4

Answer

5

Question 6

A preterm infant presents with respiratory distress soon after birth. The chest X -ray is given below. What is the most likely diagnosis?

Accepted Answer

Hyaline membrane disease

Answer

Transient tachypnea of the newborn

Answer

Pneumothorax

Answer

Diaphragmatic hernia

Question 7

A 12-year-old girl is being evaluated for pubertal development. On examination, she has early breast development and sparse, thin pubic hair. Based on the Tanner staging diagram provided, what stage does she correspond to?

Accepted Answer

Stage II

Answer

Stage I

Answer

Stage III

Answer

Stage IV

Question 8

A child was brought to the hospital with fever and rashes at both lower extremities. Labs: normal PT, APTT, & decreased platelet count. Peripheral smear: increased megakaryocyte count. What is the most probable diagnosis?

Accepted Answer

ITP

Answer

Measles

Answer

Mumps

Answer

Chicken pox

Question 9

Which among the following channels is affected in CFTR gene mutation?

Accepted Answer

Chloride

Answer

Potassium

Answer

Sodium

Answer

Magnesium

Question 10

What is the diagnosis ?

Accepted Answer

Ureterocele

Answer

Bladder diverticula

Answer

Pseudoureteroceles

Answer

Gartner's duct cysts

FMGE 2026 — Pediatrics