FMGE 2025 - Pediatrics PYQs Practice Questions

Q: A 9-month-old child was admitted to ICU with a history of recurrent sinusitis and otitis media by Staphylococcus aureus. Blood test shows decreased serum IgA, IgG, IgM, IgE, and plasma B cells. What is the diagnosis?

Bruton syndrome. ***Bruton syndrome***- This diagnosis (X-linked agammaglobulinemia or XLA) is defined by the failure of **B cell maturation** due to a mutation in the **BTK gene**, leading to near-total absence of mature B cells and plasma cells.- The clinical presentation is recurrent infections, often *S. aureus* and encapsulated bacteria, correlated with the drastic reduction of all serum **immunoglobulin levels** (IgA, IgG, IgM, IgE).*Ataxia telangiectasia*- This is an **autosomal recessive** T-cell/B-cell defect associated with defects in **DNA repair** (ATM gene), causing progressive cerebellar ataxia and oculocutaneous telangiectasias.- While associated with immunodeficiency, it typically presents with low **IgA** and **IgE**, not the complete absence of plasma B cells seen here.*Chronic granulomatous disease*- This is a phagocytic disorder due to a defect in the **NADPH oxidase** complex, preventing neutrophils from generating a respiratory burst necessary to kill catalase-positive organisms (like *S. aureus*).- Although the child has *S. aureus* infection, **serum Ig and B cell levels** remain normal, which contradicts the profound pan-hypogammaglobulinemia seen in this scenario.*DiGeorge syndrome*- Caused by defective development of the 3rd and 4th pharyngeal pouches, resulting in **T-cell deficiency** (thymic hypoplasia), **hypocalcemia**, and cardiac defects.- The primary immunodeficiency affects T cells, leading to susceptibility to **viral and fungal infections**; B cell numbers are usually normal, even though antibody production might be secondarily impaired. [Practice more Pediatrics PYQs on OnCourse]

Q: Chronic malnutrition is best measured by?

Height for age. ***Height for age*** - This index measures **stunting**, which is the definitive indicator of **chronic malnutrition** (long-term failure to achieve expected height). - A low height-for-age indicates that a child has suffered from sustained nutritional deficiencies or repeated infections over a prolonged period. *Weight for age* - This index measures **underweight**, reflecting a mixture of both **acute** and **chronic malnutrition**. - Since it is influenced by both weight loss (wasting) and long-term growth delay (stunting), it is less specific than H/A for solely quantifying chronicity. *Weight for height* - This index measures **wasting**, which is the indicator of **acute malnutrition** (recent, rapid weight loss). - It assesses current nutritional status and is essential for identifying conditions like severe acute malnutrition (SAM). *Body mass index* - BMI is a measure of generalized nutritional status, often used to define overweight or obesity in adults, but it is **not the primary index** for assessing stunting in children. - While correlated with weight-for-height, it does not specifically capture the historical growth failure characterized by low height-for-age. [Practice more Pediatrics PYQs on OnCourse]

Q: When is a blood sample taken to diagnose neonatal hypothyroidism?

72 hours after delivery. ***72 hours after delivery*** - Newborn screening for congenital hypothyroidism is ideally performed **48-72 hours after birth** - This timing avoids false-positive results from the **physiological TSH surge** that occurs in the first 24-48 hours of life - At 72 hours, TSH levels have stabilized and accurately reflect thyroid function - Early detection allows prompt treatment to prevent neurodevelopmental impairment *Immediately from the umbilical cord* - Too early - will capture the physiological TSH surge immediately after birth - Results in high false-positive rate - Not recommended for screening *24 hours after delivery* - Still within the period of physiological TSH elevation - May yield false-positive results - Not optimal timing for screening *23-48 hours after delivery* - The lower end (24-48 hours) is acceptable in some screening programs - However, 48-72 hours is preferred to ensure TSH has normalized from the physiological surge - 72 hours provides more reliable results [Practice more Pediatrics PYQs on OnCourse]

Q: A baby is born with microcephaly, intracerebral calcification and chorioretinitis. Which teratogenic infection is the mother suffering from?

Toxoplasma. ***Toxoplasma*** - The triad of **microcephaly**, diffuse **intracerebral calcifications**, and **chorioretinitis** is pathognomonic for symptomatic congenital **Toxoplasmosis**. - This parasitic infection, caused by *Toxoplasma gondii*, is often acquired by the mother through exposure to **cat feces** or ingestion of **undercooked meat** during pregnancy. *CMV* - While CMV causes microcephaly and calcifications (part of the TORCH complex), its calcifications are typically located **periventricularly** rather than diffusely throughout the cortex. - CMV is the leading infectious cause of **sensorineural hearing loss** in children, a major feature often emphasized in its presentation. *Varicella* - Congenital varicella syndrome typically involves specific cutaneous findings, such as **zig-zag skin scarring**, along with **limb hypoplasia**. - Ocular findings in varicella are usually limited to **microphthalmia** and cataracts, not the characteristic chorioretinitis seen here. *Rubella* - Congenital rubella syndrome is defined by defects like **sensorineural hearing loss**, ocular abnormalities (e.g., **cataracts**), and congenital heart defects (**patent ductus arteriosus**). - Although it causes microcephaly, it usually does **not** cause prominent diffuse intracerebral calcifications or chorioretinitis as the primary ophthalmic lesion. [Practice more Pediatrics PYQs on OnCourse]

Q: A child with fused carpal bones comes to your clinic. What is the gene associated with Hand-Foot-Genital Syndrome?

HOXA13. ***HOXA13 (Correct Answer)*** - Mutations in the **HOXA13** gene, a member of the HOX family of transcription factors, are responsible for **Hand-Foot-Genital Syndrome (HFGS)** - HFGS is an autosomal dominant disorder characterized by skeletal defects, including **fused carpal and tarsal bones** (as presented in this case), short digits, and genitourinary anomalies - The carpal fusion is a classic diagnostic feature of HOXA13 mutations *Incorrect: BCL6* - **BCL6** (B-cell lymphoma 6) is a transcriptional repressor primarily known for its role in regulating B-cell maturation and germinal center formation - Mutations or translocations involving BCL6 are implicated in **diffuse large B-cell lymphoma** and follicular lymphoma, not congenital skeletal abnormalities *Incorrect: FGFR* - **FGFR** (Fibroblast Growth Factor Receptor) genes are associated with skeletal dysplasias involving abnormal endochondral ossification - Mutations in FGFR genes cause conditions like **Achondroplasia** (FGFR3) or **craniosynostoses** (FGFR2), rather than the specific carpal-tarsal fusion pattern seen in HOXA13 defects *Incorrect: COL11* - **COL11A1** and **COL11A2** genes encode collagen type XI and are associated with **Stickler syndrome** and various collagenopathies - These conditions affect connective tissue broadly, causing features like myopia, hearing loss, and joint hypermobility, rather than the isolated carpal fusions characteristic of Hand-Foot-Genital Syndrome [Practice more Pediatrics PYQs on OnCourse]

Question 1

A 9-month-old child was admitted to ICU with a history of recurrent sinusitis and otitis media by Staphylococcus aureus. Blood test shows decreased serum IgA, IgG, IgM, IgE, and plasma B cells. What is the diagnosis?

Accepted Answer

Bruton syndrome

Answer

Chronic granulomatous disease

Answer

DiGeorge syndrome

Answer

Ataxia telangiectasia

Question 2

Chronic malnutrition is best measured by?

Accepted Answer

Height for age

Answer

Weight for height

Answer

Body mass index

Answer

Weight for age

Question 3

When is a blood sample taken to diagnose neonatal hypothyroidism?

Accepted Answer

72 hours after delivery

Answer

Immediately from the umbilical cord

Answer

23-48 hours after delivery

Answer

24 hours after delivery

Question 4

A baby is born with microcephaly, intracerebral calcification and chorioretinitis. Which teratogenic infection is the mother suffering from?

Accepted Answer

Toxoplasma

Answer

CMV

Answer

Varicella

Answer

Rubella

Question 5

A child with fused carpal bones comes to your clinic. What is the gene associated with Hand-Foot-Genital Syndrome?

Accepted Answer

HOXA13

Answer

BCL6

Answer

FGFR

Answer

COL11

Question 6

A 4-year-old child with mid-arm circumference of 105mm, upon providing therapeutic food, eagerly completed all of it. This patient is considered under?

Accepted Answer

Uncomplicated SAM

Answer

Complicated SAM

Answer

Acute malnutrition

Answer

Normal nutrition

Question 7

A 7-year-old child was brought with bow legs and on x-ray of wrist showed metaphyseal cupping, fraying, and widening of growth plates with osteopenia. What is the diagnosis?

Accepted Answer

Rickets

Answer

Hypophosphatemia

Answer

Scurvy

Answer

Osteogenesis imperfecta

Question 8

A child presents with telecanthus, hypertelorism, antimongoloid slant, and cardiac defects. What is the most likely chromosomal abnormality?

Accepted Answer

Microdeletion

Answer

Inversion

Answer

Translocation

Answer

Trisomy

Question 9

Which of the following represents the most severe form of neural tube defect where neural tissue is completely exposed without overlying skin, vertebral arches, or meninges?

Accepted Answer

Open Neural tube defect

Answer

Meningocele

Answer

Spina bifida

Answer

Myelomeningocele

Question 10

A child presents with features of short stature, muscle weakness, and learning disability. Chromosome analysis reveals a deletion on the long arm of chromosome 15q on the paternal side. What is the most likely diagnosis?

Accepted Answer

Prader-Willi syndrome

Answer

Rett syndrome

Answer

Angelman syndrome

Answer

Cri du chat syndrome

FMGE 2025 — Pediatrics