FMGE 2025 - Pediatrics Practice Questions

Q: A 3-month-old child has a respiratory rate of 56/min with no chest indrawing and no danger signs. As per IMNCI what is the most appropriate diagnosis?

Pneumonia. ***Pneumonia***- As per IMNCI guidelines, for a child aged 2 months up to 12 months, a respiratory rate of $\geq 50$ breaths/min is classified as **fast breathing**.- Since the child has **fast breathing** (56/min) but lacks **chest indrawing** or **danger signs**, the yellow category of **Pneumonia** is diagnosed.*Cold and cough*- This classification is utilized when the child has cough or cold but shows **no fast breathing** and **no chest indrawing** (Green classification, No Pneumonia).*Severe Pneumonia*- This classification requires the presence of **chest indrawing** or any **general danger sign** (e.g., lethargy, convulsions, inability to drink) alongside fast breathing or stridor (Red classification).*Allergy*- IMNCI focuses on classifying levels of severity of common infections (like respiratory infections, diarrhea, fever) for immediate management, and **allergy** is not one of the primary classification categories.

Q: A neonate was born to a controlled gestational diabetes mother. At the time of birth, he was fine but 4 days later, he developed dyspnea with SpO2 80% at room air. What is the initial management?

Give 100% O2. ***Give 100% O2***- The infant is suffering from **severe hypoxemia** (SpO2 80%), which is a life-threatening emergency requiring immediate stabilization.- The initial step in managing severe, unexplained neonatal hypoxemia or respiratory distress is to administer **100% oxygen** (maximal FiO2) to quickly improve SpO2 above critical levels (typically targeting >90-95%) while investigations or ventilation preparations are made.*Give 21% to 30% O2*- This concentration range represents minimal supplementation and is insufficient for treating **severe hypoxemia** (SpO2 80%) in a neonate.- Such low levels of supplemental oxygen are typically reserved for patients with very **mild desaturations** or during the process of weaning oxygen support.*Give 50% O2*- While this is a higher concentration than room air, 50% O2 may still be inadequate for the initial stabilization of an infant with **SpO2 80%**.- In severe, life-threatening hypoxemia, the priority is maximum oxygen concentration (100% O2) delivery to ensure rapid correction of tissue hypoxia.*Observation*- An oxygen saturation of 80% signifies acute **respiratory failure** or severe compromise and must be treated as a medical emergency, not simply observed.- **Observation** without immediate intervention inevitably leads to worsening hypoxemia, potential end-organ damage, and cardiorespiratory arrest.

Q: While evaluating a 3-year-old with short stature, height is measured at 90cm and the lower segment is 45 cm. What is the likely diagnosis?

Spondyloepiphyseal dysplasia. ***Spondyloepiphyseal dysplasia*** - This child has an **upper:lower segment ratio of 1:1** (45 cm each), which indicates **adult body proportions at age 3** - Normal U:L ratio at 3 years should be approximately **1.3:1** (relatively longer trunk than legs) - Spondyloepiphyseal dysplasia causes **short trunk dwarfism** due to vertebral and epiphyseal involvement - The **limbs are relatively preserved**, leading to a **lower U:L ratio** than expected for age (approaching adult 1:1 ratio prematurely) - This creates **disproportionate short stature** with the trunk being the primary affected segment *Congenital hypothyroidism* - Causes **proportionate short stature** with generalized growth retardation - Would maintain normal U:L ratio for age (1.3:1 at 3 years) - Associated with delayed bone age, developmental delay, and other systemic features *Rickets* - Primarily affects the **lower limbs** with bowing deformities (genu varum/valgum) - Would cause a **higher U:L ratio** (relatively shorter legs) if severe - Does not typically present with this specific 1:1 ratio pattern *Achondroplasia* - Causes **short limb dwarfism** (rhizomelic shortening) - Would result in a **high U:L ratio** (relatively longer trunk than limbs) - Opposite pattern to what is seen in this case

Q: A girl presents with microcephaly and a high-pitched cry. Which of the following is the most likely chromosomal abnormality?

Deletion. ***Deletion***- The combination of **microcephaly** and a peculiar **high-pitched cry** (often described as 'cat-like') is the hallmark clinical presentation of **Cri-du-chat syndrome**.- Cri-du-chat syndrome is caused by a **deletion** of the distal part of the short arm of chromosome 5 (5p-).*Isochromosome*- An **isochromosome** is a structural chromosomal abnormality where an arm is duplicated, resulting in two copies of one arm and none of the other (e.g., often seen in X chromosome abnormalities like **Turner syndrome**).- This type of structural error does not typically result in the specific features of Cri-du-chat syndrome, which require the loss of specific genes on **chromosome 5 short arm**.*Trisomy*- **Trisomy** is the presence of an extra copy of a chromosome (47 total chromosomes, e.g., **Down syndrome - Trisomy 21**).- Syndromes resulting from autosomal trisomies (like Patau or Edwards) present with different constellations of congenital and developmental abnormalities, lacking the pathognomonic **cat-like cry**.*Mosaicism*- **Mosaicism** describes the presence of two or more populations of cells with different genotypes in one individual, often mitigating the severity of major aneuploidies.- While it can occur with some deletions, **mosaicism** is not the primary mechanism or classification for the specific **Cri-du-chat syndrome** which is defined by the **5p deletion**.

Q: A child presents with recurrent Staphylococcus infections. Laboratory examination shows very low levels of immunoglobulins (G, A, M, E), and a low quantity of B cells. There is a normal reaction to environmental antigens on the skin. What is the most likely diagnosis?

Bruton's agammaglobulinemia. ***Bruton's agammaglobulinemia***- This X-linked disease is caused by a defect in the **Bruton tyrosine kinase (BTK)** gene, which is essential for B-cell maturation.- The deficiency results in a severe block in B-cell development, leading to **near absence of mature B cells** and consequently, extremely **low levels of all immunoglobulin isotypes** (IgG, A, M, E).*DiGeorge syndrome*- Primary feature is **T-cell deficiency** due to failure of the 3rd and 4th pharyngeal pouches, leading to **thymic hypoplasia**; this would typically impair the skin test response. - Although B cell numbers can sometimes be affected, the hallmark is severe T-cell deficiency, and Ig levels are often normal or near-normal, unlike the pan-hypogammaglobulinemia seen here.*Hyper IgM syndrome*- This condition is characterized by a failure in **isotype switching** (often due to defects in **CD40L**), resulting in normal or high levels of **IgM** but very low levels of IgG, IgA, and IgE.- B cells are present in normal counts, distinguishing it from this patient who has very few B cells and very low IgM.*Common variable immunodeficiency*- CVID typically presents later, in adolescence or adulthood, and causes **hypogammaglobulinemia** (low IgG and usually low IgA/IgM).- While B-cell function is impaired, patients usually have **normal B-cell counts**, contrasting with the severe reduction in B cells seen in this child.

Q: What is the recommended treatment for nephrotic syndrome in children?

Steroids. ***Steroids***- **Corticosteroids** (typically Prednisone/Prednisolone) are the recommended **first-line therapy** for pediatric nephrotic syndrome, as *minimal change disease* (**MCD**) is the most common cause (90% of cases).- The vast majority of children with MCD are **steroid-sensitive**, exhibiting remission (proteinuria cessation) within 2-4 weeks of high-dose treatment.*Steroids and cyclophosphamide*- Combination therapy including **cyclophosphamide** is typically reserved for children who show **steroid dependence** or **frequent relapses**, not for initial therapy.- Adding cyclophosphamide as a first-line agent is unnecessary due to its potential for significant **gonadal toxicity** and other systemic side effects.*Cyclophosphamide*- **Cyclophosphamide** is a powerful **second-line immunosuppressive agent** used primarily for children who are steroid-dependent or **steroid-resistant**.- Using it as initial monotherapy is inappropriate because children with MCD usually respond well to steroids alone, avoiding risks like **myelosuppression**.*ACE inhibitors*- **Angiotensin-converting enzyme (ACE) inhibitors** are used primarily to reduce **proteinuria** by lowering **glomerular hydrostatic pressure**.- Their role is generally adjunctive management for resistant proteinuria or for treating associated **hypertension**, not as the primary agent to induce remission.

Q: In a child presenting with a beaded appearance in the chest with the following X-ray, what is the diagnosis? ![img-94.jpeg](img-94.jpeg)

Rickets. ***Rickets*** - The clinical finding of a "beaded appearance" in the chest refers to **rachitic rosary**, which is a classic sign of rickets caused by the enlargement of the costochondral junctions. - The wrist X-ray confirms the diagnosis by showing characteristic features of defective bone mineralization, including **cupping**, **fraying**, and widening of the distal metaphysis of the radius and ulna. *Scurvy* - Scurvy, caused by **vitamin C deficiency**, typically presents with **bleeding gums**, poor wound healing, and perifollicular hemorrhage, not skeletal deformities like a rachitic rosary. - Radiographic findings in scurvy include a **white line of Fraenkel** (a dense metaphyseal line) and subperiosteal hemorrhages, which are absent in the provided X-ray. *Beri Beri* - Beri Beri is a result of **thiamine (vitamin B1) deficiency** and primarily manifests with neurological (dry beriberi) or cardiovascular (wet beriberi) symptoms. - This condition does not cause the characteristic skeletal abnormalities or radiographic changes seen in rickets. *Pellagra* - Pellagra is caused by **niacin (vitamin B3) deficiency** and is characterized by the classic triad of **dermatitis**, **diarrhea**, and **dementia** (the "3 Ds"). - It is a systemic illness that does not involve the skeletal system in the manner described or shown in the X-ray.

Q: A newborn male presents with urinary retention, lethargy and a distended bladder. Antenatal ultrasound showed a "keyhole sign" with a thickened bladder wall. Which of the following is the most likely diagnosis?

Posterior urethral valves. ***Posterior urethral valves***- The **"keyhole sign"** seen on antenatal ultrasound, characterized by a dilated posterior urethra and a thickened, distended bladder, is highly specific for **posterior urethral valves (PUV)**.- PUV is the most common cause of severe **lower urinary tract obstruction** in male newborns, leading directly to symptoms like lethargy, a palpable **distended bladder**, and urinary retention.*Hypospadias*- *Hypospadias* is an abnormal location of the **urethral meatus** on the ventral aspect of the penis.- It does not cause the severe **obstructive uropathy** (like urinary retention and bladder distension) or the **keyhole sign** observed in this patient.*Vesicoureteral reflux*- *Vesicoureteral reflux* (VUR) involves the reflux of urine from the bladder back up to the ureters and is typically a **non-obstructive** cause of hydronephrosis and UTIs.- While VUR can coexist with PUV, it is the secondary phenomenon, and VUR itself does not cause the primary **urethral obstruction** or the characteristic **keyhole appearance**.*Neurogenic bladder*- A *neurogenic bladder* results from impaired nerve supply, often due to conditions like **spina bifida**, leading to poor bladder emptying.- While it can cause retention, the unique finding of the **keyhole sign** points specifically to a fixed, **anatomical obstruction** in the posterior urethra, which is not characteristic of neurological issues.

Q: A child with progressive pallor and bone pain has an elevated HbS based on the HPLC report. Which is the best treatment to manage hemolysis in this patient?

Voxelotor. ***Voxelotor*** - It is a **hemoglobin polymerization inhibitor** that stabilizes the oxygenated form of red blood cells, preventing **sickling** and subsequent hemolytic anemia, thereby directly managing the hemolysis. - It significantly improves **hemoglobin levels** and reduces markers of hemolysis, such as **indirect bilirubin** and **reticulocyte count**. *Hydroxyurea* - Its primary mechanism is inducing the production of **fetal hemoglobin (HbF)**, thereby diluting the concentration of HbS and *indirectly* reducing hemolysis over time. - Although crucial for managing **vaso-occlusive crises** (VOCs), it is not as direct an anti-hemolytic agent as Voxelotor. *Azacytidine* - This is a **DNA methyltransferase inhibitor**, primarily used in high-risk **Myelodysplastic Syndrome (MDS)** and Acute Myeloid Leukemia (AML). - While it can induce HbF like Hydroxyurea, it is not a standard or approved frontline treatment for the routine management of Sickle Cell Disease (SCD). *Bortezomib* - This drug is a **proteasome inhibitor** used exclusively in the treatment of **Multiple Myeloma** and certain related plasma cell dyscrasias. - It has no therapeutic role or clinical indication in the specific management of hemolysis or the underlying pathophysiology of SCD.

Question 1

An unvaccinated 5-year-old child of a migrant worker family was brought to the casualty with fever and a characteristic skin rash. Upon eye examination, Bitot's spot was seen. What is the appropriate management?

Accepted Answer

Isolate and give nutritional supply with vitamin A supplement

Answer

Only measles vaccine

Answer

Institutional Isolation, nutritional management with vitamin A supplement

Answer

Give measles vaccine and vitamin A supplement

Question 2

A 3-month-old child has a respiratory rate of 56/min with no chest indrawing and no danger signs. As per IMNCI what is the most appropriate diagnosis?

Accepted Answer

Pneumonia

Answer

Cold and cough

Answer

Severe Pneumonia

Answer

Allergy

Question 3

A neonate was born to a controlled gestational diabetes mother. At the time of birth, he was fine but 4 days later, he developed dyspnea with SpO2 80% at room air. What is the initial management?

Accepted Answer

Give 100% O2

Answer

Observation

Answer

Give 50% O2

Answer

Give 21% to 30% O2

Question 4

While evaluating a 3-year-old with short stature, height is measured at 90cm and the lower segment is 45 cm. What is the likely diagnosis?

Accepted Answer

Spondyloepiphyseal dysplasia

Answer

Congenital hypothyroidism

Answer

Rickets

Answer

Achondroplasia

Question 5

A girl presents with microcephaly and a high-pitched cry. Which of the following is the most likely chromosomal abnormality?

Accepted Answer

Deletion

Answer

Mosaicism

Answer

Trisomy

Answer

Isochromosome

Question 6

A child presents with recurrent Staphylococcus infections. Laboratory examination shows very low levels of immunoglobulins (G, A, M, E), and a low quantity of B cells. There is a normal reaction to environmental antigens on the skin. What is the most likely diagnosis?

Accepted Answer

Bruton's agammaglobulinemia

Answer

Common variable immunodeficiency

Answer

Hyper IgM syndrome

Answer

DiGeorge syndrome

Question 7

What is the recommended treatment for nephrotic syndrome in children?

Accepted Answer

Steroids

Answer

ACE inhibitors

Answer

Cyclophosphamide

Answer

Steroids and cyclophosphamide

Question 8

In a child presenting with a beaded appearance in the chest with the following X-ray, what is the diagnosis? ![img-94.jpeg](img-94.jpeg)

Accepted Answer

Rickets

Answer

Beri Beri

Answer

Pellagra

Answer

Scurvy

Question 9

A newborn male presents with urinary retention, lethargy and a distended bladder. Antenatal ultrasound showed a "keyhole sign" with a thickened bladder wall. Which of the following is the most likely diagnosis?

Accepted Answer

Posterior urethral valves

Answer

Hypospadias

Answer

Vesicoureteral reflux

Answer

Neurogenic bladder

Question 10

A child with progressive pallor and bone pain has an elevated HbS based on the HPLC report. Which is the best treatment to manage hemolysis in this patient?

Accepted Answer

Voxelotor

Answer

Azacytidine

Answer

Hydroxyurea

Answer

Bortezomib

FMGE 2025 — Pediatrics