FMGE 2025 — Pediatrics
51 Previous Year Questions with Answers & Explanations
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?
Chronic malnutrition is best measured by?
When is a blood sample taken to diagnose neonatal hypothyroidism?
A baby is born with microcephaly, intracerebral calcification and chorioretinitis. Which teratogenic infection is the mother suffering from?
A child with fused carpal bones comes to your clinic. What is the gene associated with Hand-Foot-Genital Syndrome?
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?
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?
A child presents with telecanthus, hypertelorism, antimongoloid slant, and cardiac defects. What is the most likely chromosomal abnormality?
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?
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?
FMGE 2025 - Pediatrics FMGE Practice Questions and MCQs
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?
- A. Chronic granulomatous disease
- B. Bruton syndrome (Correct Answer)
- C. DiGeorge syndrome
- D. Ataxia telangiectasia
Explanation: ***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.
Question 2: Chronic malnutrition is best measured by?
- A. Weight for height
- B. Body mass index
- C. Height for age (Correct Answer)
- D. Weight for age
Explanation: ***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.
Question 3: When is a blood sample taken to diagnose neonatal hypothyroidism?
- A. Immediately from the umbilical cord
- B. 72 hours after delivery (Correct Answer)
- C. 23-48 hours after delivery
- D. 24 hours after delivery
Explanation: ***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
Question 4: A baby is born with microcephaly, intracerebral calcification and chorioretinitis. Which teratogenic infection is the mother suffering from?
- A. CMV
- B. Varicella
- C. Rubella
- D. Toxoplasma (Correct Answer)
Explanation: ***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.
Question 5: A child with fused carpal bones comes to your clinic. What is the gene associated with Hand-Foot-Genital Syndrome?
- A. BCL6
- B. HOXA13 (Correct Answer)
- C. FGFR
- D. COL11
Explanation: ***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
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?
- A. Uncomplicated SAM (Correct Answer)
- B. Complicated SAM
- C. Acute malnutrition
- D. Normal nutrition
Explanation: ***Uncomplicated SAM*** - A Mid-Arm Circumference (**MUAC**) of 105mm in a child aged 6–59 months meets the criterion for defining **Severe Acute Malnutrition (SAM)** (MUAC < 115mm). - The eager consumption of therapeutic food implies a **good appetite** (passing the appetite test), which classifies the case as *uncomplicated*, enabling **outpatient treatment** with Ready-to-Use Therapeutic Food (RUTF). - This is the **most specific and accurate classification** for management purposes. *Complicated SAM* - This classification is reserved for children with SAM who fail the **appetite test**, have **bilateral pitting edema**, or present with medical danger signs (e.g., lethargy, severe vomiting, hypothermia, hypoglycemia). - Children with complicated SAM require immediate **inpatient care** for specialized treatment and stabilization. - Since this child has a **good appetite** and no complications mentioned, this classification is incorrect. *Acute malnutrition* - While technically SAM is a form of acute malnutrition, this term is **too broad and non-specific** for clinical management. - Acute malnutrition encompasses both Severe Acute Malnutrition (**SAM**) and Moderate Acute Malnutrition (MAM). - The question requires the **most specific classification** to guide appropriate treatment (RUTF for uncomplicated SAM vs. supplementary foods for MAM vs. inpatient care for complicated SAM). - This is therefore **not the best answer** despite being partially correct. *Normal nutrition* - A MUAC of 105mm is significantly below the threshold for **normal nutritional status** (typically MUAC > 125mm or > 135mm, depending on classification system). - Normal nutritional status would not necessitate the provision of specialized therapeutic food. - This option is clearly incorrect.
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?
- A. Hypophosphatemia
- B. Scurvy
- C. Rickets (Correct Answer)
- D. Osteogenesis imperfecta
Explanation: ***Rickets*** - The clinical presentation of **bow legs** combined with characteristic wrist X-ray findings demonstrates **metaphyseal cupping**, **fraying**, and **widening of the growth plates**, along with **osteopenia** - all pathognomonic features of rickets. - This condition results from defective **bone mineralization** at growth plates, most commonly due to **vitamin D deficiency**, leading to soft and deformed bones that cannot support normal weight-bearing. - The combination of clinical deformity and specific radiological changes at the metaphysis makes this diagnosis definitive. *Hypophosphatemia* - While **hypophosphatemia** can be an underlying biochemical cause of rickets (hypophosphatemic rickets), it represents the **etiology** rather than the radiological diagnosis itself. - The X-ray changes described are the manifestation of rickets, regardless of whether it's caused by vitamin D deficiency, phosphate deficiency, or other metabolic disorders. *Scurvy* - Scurvy from **vitamin C deficiency** produces distinctly different radiological findings, including the **dense metaphyseal line (white line of Fraenkel)**, **pencil-thin cortices**, and **subperiosteal hemorrhage**. - Clinical features include **bleeding gums**, **petechial rash**, and **irritability**, which differ from the bone deformities seen in rickets. *Osteogenesis imperfecta* - OI presents with **increased bone fragility** and **multiple fractures** rather than the metabolic bone changes seen in rickets. - X-rays would show **thin cortices**, **gracile bones**, and **wormian bones in the skull**, not the metaphyseal changes characteristic of rickets. - While both conditions cause bone deformities, the **metaphyseal cupping and fraying** are specific to rickets, not OI.
Question 8: A child presents with telecanthus, hypertelorism, antimongoloid slant, and cardiac defects. What is the most likely chromosomal abnormality?
- A. Microdeletion (Correct Answer)
- B. Inversion
- C. Translocation
- D. Trisomy
Explanation: ***Microdeletion***- The combination of craniofacial irregularities like **telecanthus** and **hypertelorism**, along with congenital **cardiac defects** (often conotruncal like **Tetralogy of Fallot**), is the classical presentation of the **22q11.2 deletion syndrome** (DiGeorge syndrome or VCFS).- A **microdeletion** is the loss of a small, contiguous segment of a chromosome, identifiable via **Fluorescence In Situ Hybridization (FISH)** or chromosomal microarray, which is the underlying cause of this syndrome.*Translocation*- **Translocations** (exchange of genetic material between non-homologous chromosomes) are typically associated with large structural rearrangements or specific syndromes like **familial Down syndrome**, not the specific phenotype described here.- These features are characteristic of a small, defined contiguous gene deletion syndrome, which is not the primary consequence of a standard **translocation**.*Inversion*- An **inversion** is the reversal of a segment within a chromosome; while pathogenic if breakpoints disrupt critical genes, it is not the primary chromosomal mechanism responsible for the **22q11.2 deletion syndrome**.- Most inversions are **balanced rearrangements** and often have no phenotypic consequence unless gene expression is significantly altered.*Trisomy*- **Trisomy** refers to an extra whole copy of a chromosome (e.g., Trisomy 13, 18, 21), and the resulting syndromes have unique and different facial features (e.g., **Trisomy 21** classically presents with upslanting palpebral fissures).- While trisomies cause significant cardiac defects, the specific constellation of **telecanthus** and **antimongoloid slant** helps differentiate this from common trisomy syndromes.
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?
- A. Meningocele
- B. Spina bifida
- C. Open Neural tube defect (Correct Answer)
- D. Myelomeningocele
Explanation: ***Open Neural tube defect*** - The image displays a severe congenital anomaly where the neural tube has failed to close, leaving the neural tissue completely exposed. This specific presentation is consistent with **rachischisis**, the most severe form of spina bifida. - Characteristic features visible are the complete absence of overlying skin, vertebral arches, and meninges, exposing the flattened, malformed spinal cord (neural placode) along the entire spine. *Meningocele* - A **meningocele** is a less severe defect where a sac containing only meninges and cerebrospinal fluid protrudes through an opening in the spine; the spinal cord itself is not displaced. - This is incorrect as the image clearly shows exposed **neural tissue**, which is not a feature of a simple meningocele. *Spina bifida* - **Spina bifida** is a broad term for a range of defects involving incomplete closure of the spine. It includes mild forms like **spina bifida occulta** and severe forms like myelomeningocele, which are typically localized. - The defect in the image is far more extensive than a typical localized spina bifida, affecting a large portion or the entire spine, making it a severe type of open neural tube defect known as rachischisis. *Myelomeningocele* - In a **myelomeningocele**, both the meninges and the spinal cord protrude through the defect, typically forming a sac on the infant's back. - The image does not show a contained sac but rather a completely open, flattened neural plate, which is characteristic of **rachischisis**, a more severe condition than a typical 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?
- A. Rett syndrome
- B. Angelman syndrome
- C. Cri du chat syndrome
- D. Prader-Willi syndrome (Correct Answer)
Explanation: ***Correct: Prader-Willi syndrome*** - Caused by deletion or loss of function of **paternally inherited genes on chromosome 15q11-q13** - Classic features include **hypotonia, hyperphagia leading to obesity, short stature, hypogonadism, and learning disabilities** - The paternal origin of the deletion is key to diagnosis (genomic imprinting disorder) - Diagnostic criteria: characteristic facial features (almond-shaped eyes, narrow forehead), small hands and feet *Incorrect: Angelman syndrome* - Also involves chromosome 15q11-q13 but from **maternal deletion** (not paternal) - Features: severe intellectual disability, ataxia, happy demeanor with inappropriate laughter, seizures - Different clinical presentation despite same chromosomal region (imprinting disorder) *Incorrect: Rett syndrome* - X-linked dominant disorder caused by **MECP2 gene mutation** on chromosome X (not 15) - Primarily affects females with normal early development followed by regression - Characteristic hand-wringing movements and loss of purposeful hand skills *Incorrect: Cri du chat syndrome* - Caused by deletion on the **short arm of chromosome 5p** (not 15) - Named for characteristic cat-like cry in infancy - Features: microcephaly, wide-set eyes, low-set ears, severe intellectual disability