INI-CET 2026 - Pediatrics PYQs Practice Questions

Q: A neonate presents with prolonged neonatal jaundice, an umbilical hernia, and generalized hypotonia. Which of the following is the most likely underlying diagnosis?

Congenital hypothyroidism. ***Congenital hypothyroidism*** - Prolonged neonatal jaundice is a classic finding due to delayed maturation of hepatic glucuronyl transferase, often combined with an umbilical hernia caused by hypoventilation/hypotonia. - Generalized hypotonia, lethargy, macroglossia, and a large posterior fontanelle are key clinical signs requiring early diagnosis through newborn screening to prevent intellectual disability. *Galactosemia* - Typically presents with vomiting, poor feeding, lethargy, and failure to thrive shortly after milk ingestion, leading to E. coli sepsis and liver failure. - While jaundice is present, the diagnosis is primarily characterized by hepatosplenomegaly and cataracts, rather than umbilical hernia and isolated hypotonia. *Down syndrome* - Features such as hypotonia, upslanting palpebral fissures, and epicanthal folds are common, but they do not typically cause prolonged pathological jaundice. - An umbilical hernia is frequently seen in Down syndrome, but the child would exhibit other dysmorphic stigmata rather than the specific constellation of hypothyroidism signs. *Biliary atresia* - Presents with persistent conjugated hyperbilirubinemia, acholic stools, and hepatomegaly, rather than generalized hypotonia or umbilical hernia. - It is a surgical emergency characterized by progressive fibrosis of the extrahepatic biliary tree, not a metabolic or endocrine issue like the patient's presentation. [Practice more Pediatrics PYQs on OnCourse]

Q: A neonate presents with differential cyanosis, characterized by pink upper extremities and cyanosed lower extremities. Which of the following congenital heart diseases is most likely responsible for this clinical presentation?

Large patent ductus arteriosus (PDA). ***Large patent ductus arteriosus (PDA)*** - Differential cyanosis occurs when **deoxygenated blood** from the pulmonary artery is shunted right-to-left through a large **patent ductus arteriosus** into the descending aorta, affecting distal perfusion while leaving the pre-ductal (upper extremity) circulation supplied by the oxygenated blood from the ascending aorta. - This is typically associated with **pulmonary hypertension** or other conditions causing **reversed (right-to-left) shunt** across the ductus, leading to cyanosis strictly in the lower body. *Atrioventricular septal defect* - This condition results in central mixing of blood, typically leading to generalized (not differential) cyanosis and **congestive heart failure** symptoms. - It is classically associated with **Down syndrome** and involves defects in the atrial and ventricular septa. *Severe mitral stenosis* - Pulmonary venous hypertension and congestion are the primary findings, which lead to **pulmonary edema** and respiratory distress rather than differential cyanosis. - Cyanosis in left-sided obstructive lesions is usually late-stage or secondary to severe **pulmonary hypertension** affecting both upper and lower body circulation globally. *Peripheral vascular disease* - This condition is extremely rare in neonates and typically suggests anatomical obstructions like **coarctation of the aorta** or thromboembolic events rather than congenital cardiac defects. - Clinical presentation involving **pulm pulses** or blood pressure discrepancies in coarctation is distinct from the cyanotic manifestation of a shunted PDA. [Practice more Pediatrics PYQs on OnCourse]

Q: A female child had normal developmental milestones until 6-8 months of age, after which she developed progressive regression in language, social interaction, and adaptive behavior. The regression was accompanied by loss of purposeful hand use replaced by stereotyped repetitive hand-wringing or clapping movements, and deceleration of head circumference growth. Which of the following is the most likely diagnosis?

Rett syndrome. ***Rett syndrome*** - This condition is characterized by **normal development** until 6-18 months, followed by characteristic **regression** that includes loss of purposeful hand skills and the development of **stereotyped hand movements** like wringing or clapping. - It is classically associated with **deceleration of head growth** (acquired microcephaly) and is most commonly caused by **MECP2 gene mutations** on the X chromosome. *Childhood disintegrative disorder* - This disorder requires a period of **normal development for at least 2 years** followed by the loss of previously acquired skills. - It involves a more profound regression in multiple areas (social, communication, play) than is typically seen in the early phases of Rett syndrome. *Down syndrome* - This is a chromosomal disorder caused by **trisomy 21**, typically presenting with **intellectual disability** and characteristic dysmorphic facial features from **birth**. - Developmental delays are usually present early, rather than characterized by a distinct period of normal development followed by regression. *Asperger syndrome* - Historically defined as a high-functioning form of autism, it is characterized by social impairment and repetitive behaviors but **lacks the loss of acquired skills** or motor regression seen in Rett syndrome. - There is typically no associated **deceleration in head circumference** or specific hand stereotypies characteristic of Rett syndrome. [Practice more Pediatrics PYQs on OnCourse]

Q: A 6-week-old infant with prolonged NICU stay with presentation of fever, lethargy, poor feeding with CSF analysis showing features of bacterial meningitis. Which of the following are responsible? a. Staphylococcus aureus b. Hemophilus influenzae c. Streptococcus pneumoniae d. Listeria Choose the correct answer:

All of the above. ***All of the above*** - In a **6-week-old infant** who has stayed in the **NICU**, the etiology of meningitis is broad and reflects both community-acquired and hospital-acquired (**nosocomial**) risk factors. - All listed organisms—**Staphylococcus aureus**, **Haemophilus influenzae**, **Streptococcus pneumoniae**, and **Listeria monocytogenes**—are clinically relevant pathogens capable of causing meningitis in this population depending on maternal transmission, colonization, and environmental exposure. *Listeria* - While classically associated with **neonatal early-onset disease** (transplacental transmission), it remains a significant pathogen in this age group due to its ability to persist. - It is a facultative intracellular organism that often requires specific suspicion, especially in infants with compromised immunity or history of NICU admission. *b and d* - This option is incomplete as it ignores **Staphylococcus aureus** and **Streptococcus pneumoniae**, which are common causes of **healthcare-associated meningitis** in NICU environments. - Excluding these common pathogens fails to account for the risk of indwelling lines and procedure-related infections prevalent in NICU stays. *a, b, d* - This option is incorrect because it erroneously omits **Streptococcus pneumoniae**. - **Streptococcus pneumoniae** is a leading cause of bacterial meningitis in infants, and excluding it provides an insufficient assessment of the differential diagnosis. [Practice more Pediatrics PYQs on OnCourse]

Question 1

A neonate presents with prolonged neonatal jaundice, an umbilical hernia, and generalized
hypotonia. Which of the following is the most likely underlying diagnosis?

Accepted Answer

Congenital hypothyroidism

Answer

Galactosemia

Answer

Down syndrome

Answer

Biliary atresia

Question 2

A child diagnosed with Dravet syndrome is receiving multi-drug anti-seizure therapy and is being
considered for add-on treatment with fenfluramine. Which of the following monitoring strategies is
most critical before initiating and during the course of this therapy, given the known
pharmacological adverse-effect profile of fenfluramine?

Accepted Answer

Serial echocardiography to evaluate for cardiac valvular disease and pulmonary hypertension

Answer

Monthly complete blood count to monitor for agranulocytosis and aplastic anemia

Answer

Baseline and periodic ophthalmic examinations to monitor for visual field defects

Answer

Serial liver function tests and serum ammonia levels to monitor for hepatotoxicity

Question 3

A neonate presents with differential cyanosis, characterized by pink upper extremities and
cyanosed lower extremities. Which of the following congenital heart diseases is most likely
responsible for this clinical presentation?

Accepted Answer

Large patent ductus arteriosus (PDA)

Answer

Atrioventricular septal defect

Answer

Severe mitral stenosis

Answer

Peripheral vascular disease

Question 4

A female child had normal developmental milestones until 6-8 months of age, after which she
developed progressive regression in language, social interaction, and adaptive behavior. The
regression was accompanied by loss of purposeful hand use replaced by stereotyped repetitive
hand-wringing or clapping movements, and deceleration of head circumference growth. Which of
the following is the most likely diagnosis?

Accepted Answer

Rett syndrome

Answer

Childhood disintegrative disorder

Answer

Down syndrome

Answer

Asperger syndrome

Question 5

A 6-week-old infant with prolonged NICU stay with presentation of fever, lethargy, poor feeding
with CSF analysis showing features of bacterial meningitis. Which of the following are responsible?
a. Staphylococcus aureus
b. Hemophilus influenzae
c. Streptococcus pneumoniae
d. Listeria
Choose the correct answer:

Accepted Answer

All of the above

Answer

Listeria

Answer

b and d

Answer

a, b, d

Question 6

A pregnant woman with SLE delivers a neonate who is found to have a heart rate of 45 beats per
minute. ECG confirms complete heart block. Which maternal antibody is most likely responsible?

Accepted Answer

Anti-Ro antibody

Answer

Anti-dsDNA antibody

Answer

Anti-histone antibody

Answer

Anti-Smith antibody

Question 7

Which of the following is NOT a recognized diagnostic feature of Kawasaki disease?

Accepted Answer

Purulent conjunctivitis

Answer

Non-purulent (bilateral) conjunctivitis

Answer

Cervical lymphadenopathy

Answer

Fever lasting more than 5 days

Question 8

A child presents with fever, altered level of consciousness, and signs of meningeal irritation.
Cerebrospinal fluid (CSF) analysis reveals the following findings:
- Cell differential: Predominantly lymphocytes
- Protein: Elevated
- Glucose: Low
Based on these CSF findings, what is the most likely diagnosis?

Accepted Answer

Tuberculous meningitis

Answer

Pyogenic (bacterial) meningitis

Answer

Viral meningitis

Answer

Fungal meningitis

Question 9

A 3-hour-old newborn is found to have a blood glucose level of 38 mg/dL on routine screening.
The neonate is asymptomatic. What is the most appropriate next step in management?

Accepted Answer

Continue breastfeeding and reassess blood glucose after the next feed

Answer

Initiate 5% dextrose infusion intravenously

Answer

Leave as is and reassure the parents

Answer

Administer a 5% dextrose bolus and reassess

Question 10

A 20-month-old child walks independently without support, scribbles spontaneously, and
appropriately follows and obeys simple commands. However, the child speaks only one meaningful
word. What is the most appropriate next step in management?

Accepted Answer

Suspect isolated speech delay and arrange a formal hearing assessment

Answer

Reassure the parents and schedule a routine follow-up at 5 years of age

Answer

Evaluate the child for autism spectrum disorder (ASD)

Answer

Reassess in 3 months to allow for spontaneous improvement

INI-CET 2026 — Pediatrics