INI-CET 2025 - Pediatrics PYQs Practice Questions

Q: A 6-week-old infant presents with a history of non-bilious, non-projectile vomiting starting at 3 weeks of age. The infant's abdominal examination is normal. Which of the following is the most likely diagnosis?

Gastroesophageal reflux disease (GERD). ***Gastroesophageal reflux disease (GERD)*** - This is the most common cause of non-bilious, **non-projectile** vomiting (regurgitation) in healthy infants, often starting early and peaking around 4-5 months of age. - The history is consistent with simple **physiologic reflux**, characterized by non-forceful spitting up and a **normal abdominal examination**. *Pyloric stenosis* - Classically involves **projectile** non-bilious vomiting that becomes progressively worse, which contradicts the non-projectile description. - A physical exam would typically reveal an **olive-like mass** (hypertrophied pylorus) or visible gastric peristalsis, which is stated to be absent. *Cow Milk Protein Allergy* - Although vomiting can occur, it is usually accompanied by other symptoms like **bloody stools**, severe irritability, or **eczema**, which are not mentioned. - Isolated, mild, non-projectile vomiting without systemic signs is less specific for a protein allergy than for GERD. *Intestinal obstruction* - Obstruction distal to the ampulla of Vater (e.g., malrotation, atresia) typically causes **bilious vomiting**, which is absent in this case. - Such conditions usually lead to an **abnormal abdominal examination** or signs of acute illness, which are not present here. [Practice more Pediatrics PYQs on OnCourse]

Q: A 3-year-old child is brought to the clinic with a history of cyanosis since infancy. Which of the following is a component of Tetralogy of Fallot (TOF)?

Infundibular pulmonary stenosis. ***Infundibular pulmonary stenosis*** - This is the most common anatomic type of **pulmonary stenosis** seen in TOF, caused by hypertrophy of the muscle below the pulmonary valve (infundibulum). - The degree of this stenosis dictates the direction of flow across the VSD and, consequently, the severity of **cyanosis**. *Inter atrial septal defect* - An ASD is not a primary component of TOF. When TOF is associated with an ASD, the condition is termed **Pentalogy of Fallot**. - ASD typically causes a **left-to-right shunt** and is usually an acyanotic or late-onset cyanotic condition, unlike classic TOF. *Left ventricular hypertrophy (LVH)* - The pressure overload due to **pulmonary stenosis** and the large **VSD** leads to **Right Ventricular Hypertrophy (RVH)**. - LVH suggests conditions like severe **aortic stenosis** or systemic overloading, not the typical hemodynamics of TOF. *Transposition of the great arteries (TGA)* - **TGA** is a separate, distinct cyanotic congenital heart disease where the great arteries are transposed (aorta from RV, pulmonary artery from LV). - The components of TOF involve a single great artery relationship but with a large **Ventricular Septal Defect (VSD)** and overriding aorta. [Practice more Pediatrics PYQs on OnCourse]

Q: A neonate is found to have multiple hypopigmented macules and ash-leaf spots on Wood's lamp examination. Which of the following is the most likely diagnosis?

Tuberous Sclerosis. ***Tuberous Sclerosis*** - **Ash-leaf spots** (hypopigmented macules shaped like an ash leaf) are the most common cutaneous manifestation of **Tuberous Sclerosis Complex (TSC)** and are best visualized under a **Wood's lamp**. - TSC is an autosomal dominant neurocutaneous disorder characterized by hamartomatous lesions in multiple organs, including the brain (**subependymal giant cell astrocytomas**), kidneys (**angiomyolipomas**), and heart (**rhabdomyomas**). *Sturge-Weber Syndrome* - Characterized by a **port-wine stain** (capillary malformation) typically in the distribution of the ophthalmic branch of the **trigeminal nerve (V1)**. - Associated features include **leptomeningeal angioma** (causing seizures) and ocular abnormalities like **glaucoma**. *Neurofibromatosis Type 1* - The characteristic pigmented lesions are **café-au-lait spots** (uniform, light-brown macules), typically six or more, along with **axillary or inguinal freckling**. - Associated with **Lisch nodules** (iris hamartomas) and **neurofibromas**. *Incontinentia Pigmenti* - A rare X-linked dominant disorder, usually lethal in males, presenting with characteristic skin lesions in phases (vesicular, verrucous, hyperpigmented, and atrophic). - The hyperpigmented phase consists of swirling, marble-cake patterns of brown-gray macules along the **Blaschko lines**, not ash-leaf spots. [Practice more Pediatrics PYQs on OnCourse]

Q: A child presents with hepatosplenomegaly & cherry red spots in the eye. He also has developmental regression with normal startle response. Likely enzyme deficiency?

Sphingomyelinase. ***Sphingomyelinase (Correct Answer)*** - The triad of **hepatosplenomegaly**, **developmental regression**, and **cherry red spots** in the eye is the classic presentation of **Type A Niemann-Pick disease (NPD A)**. - **NPD A** is caused by the deficient activity of the lysosomal enzyme **sphingomyelinase**, leading to the accumulation of **sphingomyelin** in the reticuloendothelial system and CNS. - The **normal startle response** is a key distinguishing feature from Tay-Sachs disease. *Hexosaminidase A (Incorrect)* - Deficiency of **Hexosaminidase A** causes **Tay-Sachs disease**, which presents with **cherry red spots** and severe neurodegeneration, but **lacks hepatosplenomegaly**. - The **exaggerated startle response** (hyperacusis) is a classic feature of Tay-Sachs, which is noted as **normal** in this specific clinical presentation—making it a key differentiator. *Arylsulfatase A (Incorrect)* - Deficiency of **Arylsulfatase A** causes **Metachromatic Leukodystrophy (MLD)**, characterized by progressive demyelination and neurological regression. - **MLD** does not typically present with **cherry red spots** or significant **hepatosplenomegaly**. *Glucocerebrosidase (Incorrect)* - Deficiency of **Glucocerebrosidase** causes **Gaucher's disease**, which is characterized by massive **hepatosplenomegaly** and bone crises. - **Gaucher's disease** does **not** typically present with **cherry red spots** or the unique pattern of early neurodegeneration seen here (except for the rare Type 2 form). [Practice more Pediatrics PYQs on OnCourse]

Question 1

A 6-week-old infant presents with a history of non-bilious, non-projectile vomiting starting at 3 weeks of age. The infant's abdominal examination is normal. Which of the following is the most likely diagnosis?

Accepted Answer

Gastroesophageal reflux disease (GERD)

Answer

Cow Milk Protein Allergy

Answer

Intestinal obstruction

Answer

Pyloric stenosis

Question 2

A 3-year-old child is brought to the clinic with a history of cyanosis since infancy. Which of the following is a component of Tetralogy of Fallot (TOF)?

Accepted Answer

Infundibular pulmonary stenosis

Answer

Inter atrial septal defect

Answer

Left ventricular hypertrophy (LVH)

Answer

Transposition of the great arteries (TGA)

Question 3

A neonate is found to have multiple hypopigmented macules and ash-leaf spots on Wood's lamp examination. Which of the following is the most likely diagnosis?

Accepted Answer

Tuberous Sclerosis

Answer

Sturge-Weber Syndrome

Answer

Neurofibromatosis Type 1

Answer

Incontinentia Pigmenti

Question 4

A child presents with hepatosplenomegaly & cherry red spots in the eye. He also has developmental regression with normal startle response. Likely enzyme deficiency?

Accepted Answer

Sphingomyelinase

Answer

Arylsulfatase A

Answer

Glucocerebrosidase

Answer

Hexosaminidase A

Question 5

Which of the following best explains the mechanism of breast milk jaundice?

Accepted Answer

Enhanced enterohepatic circulation due to beta-glucuronidase in breast milk deconjugating bilirubin

Answer

Increased RBC breakdown producing more unconjugated bilirubin

Answer

Reduced intestinal absorption of bilirubin

Answer

Hepatocellular injury by breast milk

Question 6

Which of the following is/are incorrect regarding breastfeeding technique? 1. Infant's chin should be touching the breast 2. Infant's lower lip should be inverted during latching to the breast 3. A greater part of areola above the breast should be covered than below 4. Infant's cheeks should appear full during effective sucking.

Accepted Answer

2 & 3

Answer

1 & 4

Answer

2, 3 & 4

Answer

1, 2, 3 & 4

Question 7

Which of the following is not true regarding Marasmus in a child?

Accepted Answer

Protein loss is responsible for edema in this patient

Answer

Weight-for-age is less than 60 % of expected

Answer

Seen due to carbohydrate (caloric) deficiency

Answer

Child appears emaciated with loss of subcutaneous fat

Question 8

A 9-month-old child is brought to OPD with developmental concerns. The child cannot sit without support, says "dada" and "mama", and has stranger anxiety. What is the appropriate management?

Accepted Answer

Refer to neurologist for developmental assessment

Answer

Reassure the parents that it's normal development

Answer

Order an immediate MRI

Answer

Advise parents to start exercises

Question 9

A neonate delivered at 36-week gestation develops respiratory distress soon after birth. CXR is as shown. Likely diagnosis?

Accepted Answer

Respiratory Distress Syndrome

Answer

Meconium Aspiration Syndrome

Answer

Transient Tachypnea of Newborn

Answer

Neonatal Pneumonia

Question 10

A young boy presented with petechiae and his platelet count was 10,000/cu mm. Bone marrow aspirate revealed normal cellularity with megakaryocyte hyperplasia. Most appropriate initial therapy?

Accepted Answer

IVIG

Answer

Bone Marrow Transplant

Answer

Methotrexate

Answer

Aspirin

INI-CET 2025 — Pediatrics