FMGE 2025 - Pediatrics PYQs Practice Questions

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

Uncomplicated SAM. ***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. [Practice more Pediatrics PYQs on OnCourse]

Q: 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?

Rickets. ***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. [Practice more Pediatrics PYQs on OnCourse]

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

Microdeletion. ***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. [Practice more Pediatrics PYQs on OnCourse]

Q: 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?

Prader-Willi syndrome. ***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 [Practice more Pediatrics PYQs on OnCourse]

Question 1

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 2

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 3

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 4

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 5

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

Question 6

A 2-week-old neonate was brought to the hospital with a complaint of non-bilious vomiting. While examining the baby, the physician noted a lump in the right upper quadrant, which showed movement while feeding. What is the likely diagnosis of this child?

Accepted Answer

IHPS

Answer

Duodenal atresia

Answer

Esophageal atresia

Answer

Intusussception

Question 7

A 4-year-old unvaccinated child presents with fever, rash, and Bitot spots. What is the appropriate line of management?

Accepted Answer

Vitamin A Supplementation

Answer

Measles Vaccine

Answer

Supportive Care

Answer

Measles Vaccine + Vitamin A Supplementation

Question 8

A mother brings her 5-month-old baby to the clinic for a routine pediatric check-up. The pediatrician observes that the baby actively looks at his mother's face and responds with interest as she talks to him, showing recognition and engagement. At what age is this developmental milestone typically first achieved?

Accepted Answer

3 months

Answer

9 months

Answer

2 months

Answer

6 months

Question 9

A baby presents with the clinical features shown in the image, including characteristic perioral and perianal rash along with a history of diarrhea. Which of the following is the most likely deficiency responsible for this condition?

Accepted Answer

Zinc Deficiency

Answer

Niacin Deficiency

Answer

Selenium Deficiency

Answer

Magnesium Deficiency

Question 10

A neonate on examination has bilateral cataracts and, after investigations, is found to have a patent ductus arteriosus and salt and pepper retinopathy. What is the most likely congenital infection?

Accepted Answer

Rubella

Answer

Varicella

Answer

CMV

Answer

Toxoplasma

FMGE 2025 — Pediatrics