INI-CET 2022 - Pediatrics PYQs Practice Questions

Q: A 10-year-old boy presented with fatigue. Investigations revealed: Hemoglobin, 9 g/dL; MCV, 60 fL; MCH, 20 pg; and serum ferritin, 185 µg/L. The TLC was elevated and showed predominant lymphocytes and neutrophils. What is the likely diagnosis in this patient? **Normal values:** - Serum ferritin: 50-150 µg/L

Beta thalassemia trait. ***Beta thalassemia trait*** - The combination of **microcytic hypochromic anemia** (low MCV, MCH) with **normal to elevated ferritin** (185 µg/L is above the normal range of 50-150 µg/L) is highly suggestive of **beta thalassemia trait**, as iron stores are typically adequate or increased. - An elevated TLC with predominant lymphocytes and neutrophils is nonspecific but does not rule out thalassemia, as secondary infections or inflammatory processes can occur. *Anemia of chronic disease* - While anemia of chronic disease can cause **microcytic or normocytic anemia** and elevated ferritin (as ferritin is an acute phase reactant), the degree of **microcytosis** (MCV 60 fL) is more profound than typically seen in ACD. - ACD usually involves **inflammation or infection**, but the lab values provided more strongly point away from pure ACD. *Iron deficiency anemia* - **Iron deficiency anemia** is characterized by **microcytic hypochromic anemia** but would present with **low serum ferritin** levels, indicating depleted iron stores. - The patient's **elevated ferritin** (185 µg/L) rules out iron deficiency as the primary cause. *Lead poisoning* - **Lead poisoning** can cause **microcytic anemia** by interfering with heme synthesis, but it is typically associated with a **basophilic stippling** on peripheral blood smear and elevated blood lead levels. - It does not typically present with **elevated ferritin** as a classic feature, and the overall clinical picture is more consistent with a genetic hemoglobinopathy. [Practice more Pediatrics PYQs on OnCourse]

Q: A 10-year-old boy presents with fever, joint pain, and a lesion over his hand, as seen in the image below. Which of the following is the clinical finding, and what is the likely diagnosis?

Gottron's papules - Juvenile dermatomyositis. ***Gottron's papules - Juvenile dermatomyositis*** - The image clearly displays **Gottron's papules**, which are **erythematous, scaling papules** symmetrically distributed over the **dorsal aspects of the interphalangeal joints** (MCP and PIP joints). - The clinical presentation of a 10-year-old boy with **fever, joint pain**, and these characteristic skin lesions is highly indicative of **juvenile dermatomyositis (JDM)**, an inflammatory myopathy. *Malar rash - Systemic lupus erythematosus* - A **malar rash** is a common finding in **systemic lupus erythematosus (SLE)**, but it typically presents as an **erythematous rash over the cheeks and bridge of the nose**, sparing the nasolabial folds, and does not exhibit the papular, scaly appearance over the knuckles seen in the image. - While SLE can cause fever and joint pain, the specific skin lesion depicted is not consistent with a malar rash. *Heliotrope rash - Dermatomyositis* - A **heliotrope rash** is another classic skin manifestation of **dermatomyositis**, characterized by a **purplish discoloration around the eyelids**, often accompanied by periorbital edema. - This is distinct from the lesions shown on the knuckles, which are diagnostic of Gottron's papules, not a heliotrope rash. *Erythema multiforme - Stevens-Johnson syndrome* - **Erythema multiforme** is characterized by **targetoid lesions** with concentric rings, often appearing acutely in response to infections or medications. - **Stevens-Johnson syndrome (SJS)** is a severe form of erythema multiforme, involving extensive epidermal detachment and mucosal involvement, which does not match the chronic-appearing, papular lesions on the knuckles in the image. [Practice more Pediatrics PYQs on OnCourse]

Q: Adrenocorticotropic hormone is the drug of choice in which of the following conditions?

West syndrome. ***West syndrome*** - **Adrenocorticotropic hormone (ACTH)** is considered the drug of choice for West syndrome, also known as infantile spasms, due to its efficacy in reducing spasm frequency and improving neurodevelopmental outcomes. - **Steroid therapy**, including ACTH, is thought to work by modulating cortisol levels and neurotransmitter activity, suppressing the abnormal brain activity characteristic of these seizures. *Juvenile myoclonic epilepsy* - The drug of choice for juvenile myoclonic epilepsy is typically **valproate**, or newer antiepileptic drugs like levetiracetam or lamotrigine, known for their efficacy against myoclonic seizures. - ACTH is not used in this condition, as it is generally effective for specific types of **epileptic encephalopathies** and not generalized idiopathic epilepsies like JME. *Rolandic epilepsy* - **Rolandic epilepsy** (benign epilepsy with centrotemporal spikes) often resolves spontaneously and may not require treatment, but if seizures are frequent, drugs like gabapentin or carbamazepine are used. - ACTH has no established role in the treatment of Rolandic epilepsy, which is a **focal idiopathic epilepsy** with a good prognosis. *Lennox Gastaut syndrome* - While a severe epileptic encephalopathy, the initial management for **Lennox-Gastaut syndrome** (LGS) typically involves a combination of antiepileptic drugs such as valproate, lamotrigine, clobazam, or rufinamide. - ACTH may be considered as an adjunctive treatment in refractory cases of LGS, but it is not the **first-line drug of choice**, unlike in West syndrome where it holds a primary role. [Practice more Pediatrics PYQs on OnCourse]

Q: Which of the following cyanotic heart diseases cause increased pulmonary blood flow? 1. Ebstein anomaly 2. Tetralogy of Fallot 3. Transposition of the great arteries (TGA) 4. Total anomalous pulmonary venous communication (TAPVC) Select the correct combination:

3,4. ***3,4 (TGA and TAPVC)*** - **Transposition of the great arteries (TGA)** involves two parallel circulations with the aorta arising from the right ventricle and pulmonary artery from the left ventricle. Mixing occurs through defects (ASD, VSD, or PDA), leading to **pulmonary overcirculation** as oxygenated blood recirculates through the lungs. - **Total anomalous pulmonary venous connection (TAPVC)** results in all pulmonary veins draining into the systemic venous circulation (typically right atrium). This causes **increased volume load on the right heart** and subsequently increased pulmonary blood flow, with obligatory mixing at the atrial level. *1,2 (Ebstein and ToF)* - Both conditions cause **decreased pulmonary blood flow**. - **Ebstein anomaly** involves apical displacement of the tricuspid valve with "atrialization" of the right ventricle, causing tricuspid regurgitation and right-to-left shunting through an ASD/PFO. - **Tetralogy of Fallot** features right ventricular outflow tract obstruction (pulmonary stenosis) as its defining feature, causing reduced pulmonary blood flow. *2,4* - Incorrect combination: **Tetralogy of Fallot causes decreased pulmonary blood flow** due to RVOT obstruction, not increased. *1,4* - Incorrect combination: **Ebstein anomaly causes decreased pulmonary blood flow**, not increased. [Practice more Pediatrics PYQs on OnCourse]

Q: An 11-year-old boy was brought to the outpatient clinic with intention tremor and poor scholastic performance. His sister has similar complaints. On examination, hepatomegaly is seen. The eye finding is shown in the image. What is the probable diagnosis?

Wilson's disease. ***Wilson's disease*** - The combination of **intention tremor**, **poor scholastic performance** (indicating neurological involvement), **hepatomegaly**, and the **eye finding** (Kayser-Fleischer ring seen in the image) points strongly to Wilson's disease. The sister having similar complaints suggests an **autosomal recessive** inheritance pattern, consistent with Wilson's disease. - The image shows **Kayser-Fleischer ring**, a golden-brown ring at the corneal limbus due to **copper deposition in Descemet's membrane**, which is pathognomonic for Wilson's disease with neurological involvement. - Wilson's disease is caused by mutations in the **ATP7B gene**, leading to impaired copper excretion and accumulation in the liver, brain, and cornea. *Glutaric aciduria* - This is a rare **autosomal recessive metabolic disorder** that primarily affects the brain, leading to **dystonia** and **developmental delay**. - While it can cause neurological symptoms, it typically does not present with **hepatomegaly** or **Kayser-Fleischer rings** as prominent features. *Hepatitis A* - **Hepatitis A** is an acute viral infection of the liver, causing symptoms like fever, fatigue, nausea, vomiting, and **jaundice**. - However, it typically does not cause **intention tremor**, **poor scholastic performance**, or have a familial pattern suggesting an inherited neurological disorder. It also does not cause Kayser-Fleischer rings. *Huntington's chorea* - **Huntington's chorea** is an **autosomal dominant neurodegenerative disorder** characterized by **chorea**, psychiatric symptoms, and cognitive decline, typically manifesting in adulthood. - It does not present with **hepatomegaly** or **Kayser-Fleischer rings** at this age and is not associated with the constellation of liver and neurological symptoms described. [Practice more Pediatrics PYQs on OnCourse]

Question 1

A 10-year-old boy presented with fatigue. Investigations revealed: Hemoglobin, 9 g/dL; MCV, 60 fL; MCH, 20 pg; and serum ferritin, 185 µg/L. The TLC was elevated and showed predominant lymphocytes and neutrophils. What is the likely diagnosis in this patient?

**Normal values:**
- Serum ferritin: 50-150 µg/L

Accepted Answer

Beta thalassemia trait

Answer

Anemia of chronic disease

Answer

Iron deficiency anemia

Answer

Lead poisoning

Question 2

A 10-year-old boy presents with fever, joint pain, and a lesion over his hand, as seen in the image below. Which of the following is the clinical finding, and what is the likely diagnosis?

Accepted Answer

Gottron's papules - Juvenile dermatomyositis

Answer

Malar rash - Systemic lupus erythematosus

Answer

Heliotrope rash - Dermatomyositis

Answer

Erythema multiforme - Stevens-Johnson syndrome

Question 3

Adrenocorticotropic hormone is the drug of choice in which of the following conditions?

Accepted Answer

West syndrome

Answer

Juvenile myoclonic epilepsy

Answer

Rolandic epilepsy

Answer

Lennox Gastaut syndrome

Question 4

Which of the following cyanotic heart diseases cause increased pulmonary blood flow?

1. Ebstein anomaly
2. Tetralogy of Fallot
3. Transposition of the great arteries (TGA)
4. Total anomalous pulmonary venous communication (TAPVC)

Select the correct combination:

Accepted Answer

3,4

Answer

1,2

Answer

2,4

Answer

1,4

Question 5

An 11-year-old boy was brought to the outpatient clinic with intention tremor and poor scholastic performance. His sister has similar complaints. On examination, hepatomegaly is seen. The eye finding is shown in the image. What is the probable diagnosis?

Accepted Answer

Wilson's disease

Answer

Glutaric aciduria

Answer

Hepatitis A

Answer

Huntington's chorea

Question 6

An unconscious child is brought to the casualty. What is the correct sequence of the management?

Accepted Answer

Airway, Breathing, Circulation

Answer

Circulation, Airway, Breathing

Answer

Breathing, Circulation, Airway

Answer

Circulation, Breathing, Airway

Question 7

A child presents with poor growth and swelling at joints. A radiograph of his wrist is given below. Lab investigations reveal serum ALP levels of >1500. What is the possible diagnosis?

Accepted Answer

Rickets

Answer

Osteoporosis

Answer

Osteomalacia

Answer

Osteogenesis imperfecta

INI-CET 2022 — Pediatrics