FMGE 2025 - Pediatrics Practice Questions

Q: A newborn, born to a diabetic mother, presents after 24 hours of life with a blood glucose level of <35 mg/dL. The baby is symptomatic. What is the next best step in management?

Administer IV glucose and recheck blood glucose after 20 minutes. ***Administer IV glucose and recheck blood glucose after 20 minutes*** - Symptomatic hypoglycemia (blood glucose <40–45 mg/dL, often <35 mg/dL) requires immediate treatment with an **IV dextrose bolus** (typically D10W at 2 mL/kg) to rapidly correct the glucose deficit and prevent **neurological injury**. - After administering the IV bolus, the effectiveness of the treatment must be confirmed by repeating the blood glucose level measurement within 15–30 minutes (recheck after 20 minutes) to ensure target levels are maintained. *Administer IV bolus of Hartmann solution* - **Hartmann solution (Lactated Ringer's)** is an isotonic crystalloid mainly used for volume expansion and contains negligible dextrose, making it ineffective for treating severe, symptomatic **hypoglycemia**. - Using an IV fluid without sufficient glucose will lead to a dangerous delay in restoring adequate **cerebral glucose delivery**. *Recheck blood glucose after 20 minutes* - Since the infant is **symptomatic**, there is an immediate risk of irreversible **neurological damage**; therefore, treatment cannot be delayed for confirmation. - Immediate intervention with **IV dextrose** is mandatory for all symptomatic neonates regardless of the time since the last measurement, followed by a recheck. *Start oral feeds and observe* - Oral feeds are appropriate only for managing **asymptomatic, mild to moderate hypoglycemia** (e.g., in high-risk infants who screen positive but are clinically well). - Given the symptoms and blood glucose <35 mg/dL, relying on slow absorption from oral feeds is inadequate and exposes the infant to the risk of seizures and **brain injury**.

Q: A young boy is brought to the clinic for developmental assessment. On examination, he has a prominent epicanthal fold, a single transverse palmar crease, hypotonia, and intellectual disability. Facial features appear flat with upslanting palpebral fissures. What is the most likely diagnosis?

Down syndrome. ***Down syndrome*** (Trisomy 21) is the most likely diagnosis, as the combination of **hypotonia**, **intellectual disability**, **flat facial features**, **upslanting palpebral fissures**, and a **single transverse palmar crease** (Simian crease) are classic findings. The presence of these multiple congenital anomalies suggests a chromosomal abnormality, with Trisomy 21 being the most common cause of intellectual disability associated with these findings. *Patau syndrome* (Trisomy 13) is characterized by severe midline defects such as **cleft lip and palate**, **microphthalmia**, and **polydactyly**, features not mentioned in this presentation. *Edward syndrome* (Trisomy 18) is typically associated with **rocker-bottom feet**, **micrognathia**, and characteristic **clenched hands** with overlapping fingers, making this option less likely. Finally, *Fragile X syndrome* is an X-linked disorder presenting with large ears, a long face, and **macroorchidism** (in post-pubertal males), but lacks the specific facial and palmar crease findings described here.

Q: A 10-year-old child weighs 40 kg and presents with mental retardation. On examination, the upper segment to lower segment (US:LS) ratio is 1.1:1. What is the most likely diagnosis?

Cretinism. ***Cretinism*** - **Cretinism** (untreated congenital **hypothyroidism**) is the classic cause of the combination of **mental retardation** and **short stature with increased US:LS ratio** in children. - **Mental retardation** is a hallmark feature of cretinism due to the critical role of thyroid hormone in brain development during fetal and early postnatal life. - The **increased US:LS ratio** (1.1:1 at age 10, compared to normal 1.0:1) results from **disproportionate skeletal growth** with delayed bone maturation and relatively shorter lower limbs. - Clinical features include coarse facial features, large tongue, umbilical hernia, prolonged jaundice, hypotonia, and delayed developmental milestones. *Incorrect: Rickets* - **Rickets** (vitamin D deficiency) causes skeletal deformities including bowing of legs, rachitic rosary, and growth retardation with possible increased US:LS ratio. - However, **rickets does NOT cause mental retardation** — it is purely a disorder of bone mineralization and does not affect cognitive development. - The presence of mental retardation in this case rules out rickets as the primary diagnosis. *Incorrect: Achondroplasia* - Achondroplasia causes **rhizomelic dwarfism** with markedly increased US:LS ratio (typically >1.5:1), far more dramatic than the 1.1:1 seen here. - Crucially, **intelligence is normal** in achondroplasia, which contradicts the finding of mental retardation in this case. *Incorrect: Hypothyroidism* - **Acquired juvenile hypothyroidism** (after age 2-3 years) can cause growth failure and mild increase in US:LS ratio. - However, **severe mental retardation is rare** in acquired hypothyroidism because brain development is largely complete by this age. - The term "hypothyroidism" without qualifier typically refers to acquired disease, whereas **cretinism** specifically denotes congenital hypothyroidism with its characteristic neurological sequelae.

Q: An 8-year-old child presents with enuresis (bedwetting). The parents mention the child had a fall from bed once, but has no other significant medical history. There are no signs of urinary tract infection or neurological deficits. What is the best next step in management?

Behavioral modification. ***Behavioral modification*** - **Behavioral modification** is the established first-line management approach for **monosymptomatic nocturnal enuresis (MNE)** in children aged 5 years and older, particularly when underlying organic causes are ruled out. - This includes techniques like **bedwetting alarms** (most effective long-term treatment), motivational therapy, and restricting evening fluid intake. *Start desmopressin therapy* - **Desmopressin (DDAVP)** is the most common pharmacological agent for MNE, used for severe symptoms or situational control (e.g., sleepovers). - However, desmopressin is typically initiated *after* an adequate trial (3-6 months) of **behavioral therapies** has failed, making it a second-line, not first-line, option. *Order renal ultrasound and voiding cystourethrogram* - Imaging studies are **not routinely indicated** in uncomplicated primary MNE without red flags. - These investigations are reserved for cases with **secondary enuresis**, daytime symptoms, recurrent UTIs, abnormal physical findings, or suspected anatomical abnormalities. - The current presentation has no concerning features warranting immediate imaging. *Prescribe oxybutynin* - Oxybutynin is an anticholinergic agent used primarily when enuresis is due to **reduced functional bladder capacity** or **daytime wetting** associated with urgency. - It is typically a **second-line agent** or used only when a full workup identifies specific bladder dynamics issues, following the failure of behavioral therapy.

Q: A 5-year-old child presents with exertional dyspnea and a history of cyanotic spells. On examination, there is clubbing and a harsh systolic murmur heard at the left upper sternal border. Chest X-ray is shown below. What is the most likely diagnosis?

Tetralogy of Fallot. ***Tetralogy of Fallot*** - The clinical triad of **exertional dyspnea**, **cyanotic spells** (tet spells), and a **harsh systolic murmur** at the left upper sternal border (due to pulmonary stenosis) is classic for this condition. - The chest X-ray shows a characteristic **"boot-shaped heart"** (coeur en sabot), which results from **right ventricular hypertrophy** (forming the toe) and a concave main pulmonary artery segment. *Total Anomalous Pulmonary Venous Connection* - The classic chest X-ray finding for TAPVC is a **"snowman sign"** or **"figure-of-eight"** appearance, which is not seen in the provided image. - While it is a cyanotic condition, it results from the mixing of oxygenated and deoxygenated blood and is associated with signs of right heart failure and pulmonary edema. *Transposition of the Great Arteries* - This condition typically presents with severe **cyanosis at birth** and requires immediate intervention for survival; presentation at age 5 is highly unlikely without prior surgery. - The characteristic radiographic sign is an **"egg-on-a-string"** appearance with a narrow superior mediastinum, differing from the boot shape seen here. *Atrial Septal Defect* - An ASD is an **acyanotic** heart defect (left-to-right shunt), so it does not cause cyanotic spells or clubbing in a 5-year-old. - The hallmark physical finding is a **wide, fixed splitting of S2**, not a harsh systolic murmur.

Q: Which of the following is considered harmful to a newborn baby in the immediate postnatal period?

Giving a bath immediately after birth. ***Giving a bath immediately after birth***- Immediate bathing is associated with a high risk of **neonatal hypothermia** due to rapid evaporative heat loss, as newborns have immature thermoregulatory systems.- Current guidelines (e.g., WHO) recommend delaying bathing for at least 6 hours, and ideally 24 hours, to allow for temperature stabilization and to preserve the protective **vernix caseosa**.*Cleaning the eyes with a wet sterile swab*- This is standard practice, usually followed by applying prophylactic eye ointment (e.g., erythromycin), to prevent **ophthalmia neonatorum** caused by organisms like *Neisseria gonorrhoeae* or *Chlamydia trachomatis*.- It is a safe and necessary procedure to prepare the eyes for prophylaxis, ensuring the area is free of potentially infectious material.*Initiating breastfeeding within 1 hour*- Early initiation of breastfeeding is part of **Essential Newborn Care** and is highly beneficial, helping to stabilize the neonate's blood glucose levels and preventing **hypoglycemia**.- Colostrum provides crucial passive immunity and facilitates strong **maternal-infant bonding**, stimulating uterine involution in the mother.*Placing the baby on the mother's chest*- This practice, known as **skin-to-skin contact** (SSC), is vital for maintaining the baby's temperature, as the mother’s chest provides optimal **thermal regulation**.- SSC reduces infant stress, stabilizes heart rate and respiration, and greatly facilitates the transition to **early breastfeeding**.

Q: A 4-month-old infant is brought to the emergency department with a respiratory rate of 66 breaths per minute, along with chest indrawing and nasal flaring. There are no other significant findings. What is the most likely diagnosis?

Severe pneumonia. ***Severe pneumonia*** - According to **WHO/IMCI guidelines**, pneumonia in infants (2-12 months) is classified based on clinical signs. - This 4-month-old has a respiratory rate of **66 breaths/minute** (tachypnea, as RR ≥ 50 is abnormal) along with **chest indrawing** and **nasal flaring**. - The presence of **chest indrawing** is the defining feature that classifies this as **severe pneumonia** rather than simple fast-breathing pneumonia. - WHO classification: Fast breathing alone = pneumonia; Fast breathing + chest indrawing = **severe pneumonia**; danger signs (inability to feed, lethargy, cyanosis) = very severe disease. *Pneumonia* - Simple **pneumonia** (or fast-breathing pneumonia) would be diagnosed if the infant had only **tachypnea** (RR ≥ 50/min) **without** chest indrawing or other danger signs. - Since this infant has **chest indrawing**, it automatically upgrades the classification to severe pneumonia per WHO/IMCI criteria. - This distinction is clinically important as it determines management (severe pneumonia requires hospitalization and parenteral antibiotics). *Severe asthma* - **Asthma** is very uncommon in a 4-month-old infant, as it typically develops later following sensitization and recurrent episodes, often associated with atopy. - The hallmark feature of asthma is audible **wheezing**, which is not mentioned in this presentation. - While respiratory distress can occur in asthma, the absence of wheezing and the age make this diagnosis unlikely. *Common cold* - A **common cold** is a mild upper respiratory tract infection (URTI) that presents with nasal congestion, rhinorrhea, and possibly mild cough. - It does not cause significant respiratory distress such as severe **tachypnea** (RR 66/min) or **chest indrawing**. - The degree of respiratory compromise described here is far beyond what would be expected in a common cold.

Q: A 2-week-old infant presents with high conjugated (direct) bilirubin, dark-colored urine, and clay-colored stools. On examination, the infant appears jaundiced, but is feeding normally. What is the most likely diagnosis?

Biliary atresia. ***Biliary atresia*** - High **conjugated hyperbilirubinemia** combined with characteristic signs of biliary obstruction, such as **acholic (clay-colored) stools** and **dark urine**, is the classic presentation of **biliary atresia** in infants typically presenting after the first week of life. - This condition involves progressive obliteration of the extrahepatic **biliary tree**, requiring urgent diagnosis and treatment (Kasai procedure) before 60 days of age to prevent irreversible **cirrhosis**. *Crigler-Najjar syndrome* - This disorder results from a severe deficiency or absence of **UGT1A1** activity, leading exclusively to severe **unconjugated hyperbilirubinemia** and a high risk of **kernicterus**. - It does not involve excretion issues causing **conjugated hyperbilirubinemia** or evidence of biliary blockage like **acholic stools**. *Gilbert's syndrome* - This syndrome is characterized by **unconjugated hyperbilirubinemia** due to reduced activity of the hepatic enzyme **UDP-glucuronosyltransferase (UGT1A1)**, not the conjugated form seen here. - It is generally an inherited, benign condition that presents later in life (adolescence/adulthood) and does not cause **biliary obstruction** symptoms (clay stools, dark urine). *Physiological jaundice* - **Physiological jaundice** typically presents with **unconjugated hyperbilirubinemia**, begins *after* 24 hours of life, peaks around 3-5 days, and usually resolves by 1-2 weeks. - The presentation at 2 weeks with *conjugated* hyperbilirubinemia (which is always pathological) and signs of obstruction rules out this benign, self-limiting cause.

Q: A newborn presents with jaundice, conjugated hyperbilirubinemia, intrahepatic cholestasis, and elevated alkaline phosphatase. Liver biopsy reveals eosinophilic, PAS-positive cytoplasmic granules in hepatocytes. What is the most likely diagnosis?

Neonatal hepatitis. ***Neonatal hepatitis***- **Neonatal hepatitis** is a broad term encompassing various causes of **intrahepatic cholestasis** in infants, including viral infections and metabolic disorders like **Alpha 1 AT deficiency**.- The presence of eosinophilic, **PAS-positive cytoplasmic granules** in the liver biopsy is virtually pathognomonic for **Alpha 1 AT deficiency**, which is a leading identifiable cause grouped under this overall diagnosis.*Hypoplasia of the biliary tract*- This refers to a reduction or paucity of bile ducts (e.g., in **Alagille syndrome**) leading to cholestasis, but it is less common than other causes of intrahepatic cholestasis.- While it causes conjugated hyperbilirubinemia, the damage pattern is primarily related to duct paucity rather than the specific hepatocyte injury and granule accumulation of **A1AT deficiency**.*Choledochal cyst*- A **choledochal cyst** is an extrahepatic cause of cholestasis resulting from obstruction and dilatation of the **common bile duct**.- It typically presents with extrahepatic obstruction, and while it causes conjugated hyperbilirubinemia, it would not explain the classic **intrahepatic cellular findings** (PAS-positive granules) seen with A1AT deficiency.*Physiological*- **Physiological jaundice** is caused by the inability of the immature liver to process bilirubin, resulting exclusively in **unconjugated hyperbilirubinemia**.- Since this neonate presents with **conjugated hyperbilirubinemia**, physiological jaundice is excluded, as this finding always mandates immediate investigation for underlying pathology (**cholestasis**).

Q: A child presents with recurrent sinusitis and repeated lung infections. Genetic testing shows a mutation in the CFTR gene. Which test is considered the gold standard to confirm the diagnosis?

Sweat chloride test. ***Sweat chloride test*** - It is recognized as the **gold standard** test for diagnosing Cystic Fibrosis in patients with suggestive symptoms or positive genetic screening (CFTR mutation). - The test measures non-reabsorbed chloride ions in the sweat, with levels **≥ 60 mEq/L** typically confirming the diagnosis due to **CFTR protein dysfunction**. *Lung biopsy* - This is an **invasive procedure** with significant risk and is not required for the standard diagnosis of Cystic Fibrosis. - While it might show findings consistent with severe CF (e.g., **bronchiectasis**), genetic testing and the sweat test provide definitive, less invasive confirmation. *Chest X-ray* - A Chest X-ray is a **radiographic imaging tool** used to monitor the progression of lung disease (e.g., presence of **hyperinflation** or **bronchiectasis**). - It is not a diagnostic test for the underlying CFTR defect and cannot definitively confirm the diagnosis of Cystic Fibrosis. *Nasal swab culture* - This test is used to identify common pathogens such as **Pseudomonas aeruginosa** or **Staphylococcus aureus**, which frequently colonize the airways of CF patients. - It is essential for managing **pulmonary exacerbations** and guiding antibiotic selection but does not assess CFTR function or establish the primary diagnosis.

Question 1

A newborn, born to a diabetic mother, presents after 24 hours of life with a blood glucose level of <35 mg/dL. The baby is symptomatic. What is the next best step in management?

Accepted Answer

Administer IV glucose and recheck blood glucose after 20 minutes

Answer

Administer IV bolus of Hartmann solution

Answer

Start oral feeds and observe

Answer

Recheck blood glucose after 20 minutes

Question 2

A young boy is brought to the clinic for developmental assessment. On examination, he has a prominent epicanthal fold, a single transverse palmar crease, hypotonia, and intellectual disability. Facial features appear flat with upslanting palpebral fissures. What is the most likely diagnosis?

Accepted Answer

Down syndrome

Answer

Patau syndrome

Answer

Edward syndrome

Answer

Fragile X syndrome

Question 3

A 10-year-old child weighs 40 kg and presents with mental retardation. On examination, the upper segment to lower segment (US:LS) ratio is 1.1:1. What is the most likely diagnosis?

Accepted Answer

Cretinism

Answer

Achondroplasia

Answer

Hypothyroidism

Answer

Rickets

Question 4

An 8-year-old child presents with enuresis (bedwetting). The parents mention the child had a fall from bed once, but has no other significant medical history. There are no signs of urinary tract infection or neurological deficits. What is the best next step in management?

Accepted Answer

Behavioral modification

Answer

Start desmopressin therapy

Answer

Order renal ultrasound and voiding cystourethrogram

Answer

Prescribe oxybutynin

Question 5

A 5-year-old child presents with exertional dyspnea and a history of cyanotic spells. On examination, there is clubbing and a harsh systolic murmur heard at the left upper sternal border. Chest X-ray is shown below. What is the most likely diagnosis?

Accepted Answer

Tetralogy of Fallot

Answer

Total Anomalous Pulmonary Venous Connection

Answer

Atrial Septal Defect

Answer

Transposition of the Great Arteries

Question 6

Which of the following is considered harmful to a newborn baby in the immediate postnatal period?

Accepted Answer

Giving a bath immediately after birth

Answer

Placing the baby on the mother's chest

Answer

Cleaning the eyes with a wet sterile swab

Answer

Initiating breastfeeding within 1 hour

Question 7

A 4-month-old infant is brought to the emergency department with a respiratory rate of 66 breaths per minute, along with chest indrawing and nasal flaring. There are no other significant findings. What is the most likely diagnosis?

Accepted Answer

Severe pneumonia

Answer

Pneumonia

Answer

Severe asthma

Answer

Common cold

Question 8

A 2-week-old infant presents with high conjugated (direct) bilirubin, dark-colored urine, and clay-colored stools. On examination, the infant appears jaundiced, but is feeding normally. What is the most likely diagnosis?

Accepted Answer

Biliary atresia

Answer

Crigler-Najjar syndrome

Answer

Gilbert’s syndrome

Answer

Physiological jaundice

Question 9

A newborn presents with jaundice, conjugated hyperbilirubinemia, intrahepatic cholestasis, and elevated alkaline phosphatase. Liver biopsy reveals eosinophilic, PAS-positive cytoplasmic granules in hepatocytes. What is the most likely diagnosis?

Accepted Answer

Neonatal hepatitis

Answer

Physiological

Answer

Hypoplasia of the biliary tract

Answer

Choledochal cyst

Question 10

A child presents with recurrent sinusitis and repeated lung infections. Genetic testing shows a mutation in the CFTR gene. Which test is considered the gold standard to confirm the diagnosis?

Accepted Answer

Sweat chloride test

Answer

Chest X-ray

Answer

Lung biopsy

Answer

Nasal swab culture

FMGE 2025 — Pediatrics