Congenital defects Practice Questions

Q: A 2 -month-old child presents with the following condition as shown in the image. What is the ideal management protocol?

Medical management. ***Medical management*** - The image shows **epicanthal folds**, which are normal in many Asian infants and children. They are **congenital, benign skin folds** that cover the inner corner of the eye. - In a 2-month-old child, these folds are a normal variant and typically **recede with age**. No medical intervention, surgical or otherwise, is usually required. *Operate immediately* - **No medical indication** for immediate surgery as epicanthal folds are not a pathological condition requiring urgent correction. - Surgical intervention for cosmetic purposes is typically considered much later in life, if at all, when facial features are more developed. *Surgery after 6 months of age* - Epicanthal folds are **still a normal finding** in infants up to 6 months of age and often persist for several years. - Premature surgical correction could be unnecessary as the folds may resolve naturally with the development of the **nasal bridge**. *Surgery after 2 years of age* - While epicanthal folds can still be present at 2 years of age, surgery is **rarely indicated** unless they cause significant vision problems (e.g., pseudostrabismus) or severe cosmetic concerns that persist into later childhood. - By this age, many children will have developed a more prominent nasal bridge, which can lessen the appearance of the folds naturally. *Refer to pediatric ophthalmology for evaluation* - While specialist referral might be considered if there are concerns about **vision impairment or true strabismus**, isolated epicanthal folds in a 2-month-old infant are a **normal anatomical variant** that does not require specialist evaluation. - Referral would be appropriate only if there were functional concerns beyond the cosmetic appearance of the folds.

Q: A patient presents with an X-ray showing cardiomegaly, along with symptoms of hypotonia, macroglossia, hepatomegaly, and floppy baby syndrome. The X ray of the infant is shown below. What is the most likely diagnosis?

Pompe's disease. ***Pompe's disease*** - Pompe's disease (Type II glycogen storage disease) is characterized by a deficiency of **alpha-glucosidase**, leading to **glycogen accumulation** in lysosomes. - This accumulation results in **cardiomegaly**, **hypotonia** ("floppy baby"), **hepatomegaly**, and **macroglossia**, which perfectly match the clinical presentation. *Ebstein anomaly* - This is a congenital heart defect involving the **tricuspid valve**, leading to its displacement into the right ventricle. - While it causes cardiomegaly, it does not typically present with the systemic features like **hypotonia, macroglossia, or hepatomegaly** described. *Transposition of great arteries* - This is a complex congenital heart defect where the **aorta and pulmonary artery are switched**, resulting in two separate circulatory systems. - It causes severe cyanosis and cardiomegaly but does not explain the widespread glycogen storage symptoms such as **hypotonia** or **hepatomegaly**. *Von Gierke's disease* - **Von Gierke's disease** (Type I glycogen storage disease) is caused by a deficiency of **glucose-6-phosphatase**. - It primarily affects the **liver and kidneys**, causing severe hypoglycemia, hepatomegaly, and **nephromegaly**, but typically not significant cardiomegaly or profound hypotonia. *Congenital hypothyroidism* - Can present with **macroglossia, hypotonia, and hepatomegaly** similar to Pompe's disease. - However, the **massive cardiomegaly** seen on X-ray is not typical of hypothyroidism, and other features like prolonged jaundice, constipation, and umbilical hernia would be more prominent.

Question 1

A 4-week-old male infant is brought to the emergency department with a 3-day history of progressive non-bilious, forceful vomiting after every feeding. He appears hungry and roots immediately after vomiting. On examination, weight is 3.1 kg (birth weight 3.4 kg), he is mildly lethargic, his anterior fontanelle is slightly sunken, and a small olive-shaped mass is palpable in the epigastrium. An abdominal ultrasound confirms the suspected diagnosis. Laboratory values show: Na 132 mEq/L, K 3.0 mEq/L, Cl 88 mEq/L, HCO3 30 mEq/L, pH 7.50. Which of the following represents the most appropriate sequence of management steps?

Accepted Answer

Correct fluid and electrolyte abnormalities with IV normal saline plus potassium chloride, then proceed to surgical pyloromyotomy once metabolic parameters normalize

Answer

Begin nasogastric tube feeds with thickened formula and reassess surgical need in 24–48 hours

Answer

Proceed immediately to surgical pyloromyotomy given the degree of weight loss and dehydration

Answer

Administer IV atropine infusion as first-line treatment and reserve surgery for non-responders

Answer

Perform upper GI contrast study to confirm diagnosis, then initiate IV fluid resuscitation prior to surgery

Question 2

A 3-year-old child presents with respiratory distress and a history of recurrent respiratory infections. Based on the provided imaging, what is the most likely diagnosis?

Accepted Answer

CPAM (Congenital Pulmonary Airway Malformation)

Answer

Lung abscess

Answer

Pyopneumothorax

Answer

CDH (Congenital Diaphragmatic Hernia)

Answer

Pulmonary sequestration

Question 3

A 2 -month-old child presents with the following condition as shown in the image. What is the ideal management protocol?

Accepted Answer

Medical management

Answer

Operate immediately

Answer

Surgery after 6 months of age

Answer

Surgery after 2 years of age

Answer

Refer to pediatric ophthalmology for evaluation

Question 4

A 13-year-old boy presents with jaundice, fatigue, muscle stiffness, tremors, and behavioral changes. Examination reveals an enlarged liver and spleen. A Kayser-Fleischer ring was noted. What is the definitive diagnostic test?

Accepted Answer

Hepatic parenchymal copper concentration

Answer

Urinary copper

Answer

Serum ceruloplasmin

Answer

Slit lamp examination

Answer

Genetic testing for ATP7B mutation

Question 5

A patient presents with an X-ray showing cardiomegaly, along with symptoms of hypotonia, macroglossia, hepatomegaly, and floppy baby syndrome. The X ray of the infant is shown below. What is the most likely diagnosis?

Accepted Answer

Pompe's disease

Answer

Ebstein anomaly

Answer

Transposition of great arteries

Answer

Von Gierke's disease

Answer

Congenital hypothyroidism

Congenital defects — MCQs

Congenital defects — MCQs

On this page

Practice by Chapter

Want unlimited practice?