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.

Q: What is the diagnosis based on the image shown ![img-5.jpeg](img-5.jpeg)

Bladder exstrophy. ***Bladder exstrophy*** - The image distinctly shows an **exposed urinary bladder** on the abdominal wall, a hallmark of bladder exstrophy. - This congenital anomaly results from a **failure of midline closure** of the infraumbilical abdominal wall and bladder. *Omphalocele* - An omphalocele involves protrusion of **abdominal viscera** (intestines, liver) into the base of the umbilical cord. - The herniated organs are typically **covered by a sac** composed of peritoneum and amnion, which is absent in the image. *Umbilical hernia* - An umbilical hernia is a protrusion of abdominal contents through the **umbilical ring**, but the skin remains intact and covers the defect. - The image clearly shows an **exposed organ** without skin coverage, ruling out an umbilical hernia. *Gastroschisis* - Gastroschisis involves the **evisceration of intestines** through a full-thickness abdominal wall defect, usually to the right of the umbilical cord. - Unlike the image, the defect in gastroschisis is typically **much smaller** and primarily involves the bowel, not the bladder, and there is no covering sac. *Epispadias* - Epispadias is a **urethral defect** where the urethral opening is on the dorsal (upper) surface of the penis or anterior bladder neck. - While epispadias is part of the **exstrophy-epispadias complex** and often associated with bladder exstrophy, it does not present with an **exposed bladder** on the abdominal wall as seen in the image.

Q: A 6-week-old baby is brought in by the mother with complaints of vomiting. An X-ray shows a single bubble appearance. What is the most likely diagnosis?

Congenital hypertrophic pyloric stenosis (CHPS). ***Congenital hypertrophic pyloric stenosis (CHPS)*** - The **single bubble appearance** observed in the X-ray, along with vomiting in a 6-week-old, is characteristic of an obstruction at the gastric outlet due to **pyloric stenosis**. The "bubble" represents the dilated stomach. - Infants with CHPS typically present with **non-bilious projectile vomiting** around 3-6 weeks of age, often accompanied by good appetite. *Duodenal atresia* - This condition classically presents with a **"double bubble" sign** on X-ray, representing dilation of the stomach and the proximal duodenum. - Vomiting is usually **bilious** and occurs earlier, often from birth. *Annular pancreas* - Annular pancreas can cause duodenal obstruction, leading to a **"double bubble" sign** similar to duodenal atresia. - The presentation would also be earlier, typically with **bilious vomiting** from birth or shortly thereafter. *Jejunal atresia* - Jejunal atresia would result in **multiple dilated loops of small bowel** proximal to the obstruction with air-fluid levels, rather than a single bubble. - The vomiting would be **bilious** and abdominal distension would be more prominent. *Malrotation with midgut volvulus* - This presents with **bilious vomiting** and can occur at any age, though commonly in the first few weeks of life. - X-ray findings include a **"corkscrew" or "whirl" sign** on contrast studies, or a gasless abdomen if complete obstruction occurs. - Unlike the single bubble of pyloric stenosis, malrotation typically shows abnormal bowel gas patterns or a paucity of gas in the abdomen.

Q: A 3-year-old child presents to the OPD with a history of recurrent urinary tract infections, poor urinary stream, and difficulty voiding. The radiological image is shown below. What is the most appropriate management?

Endoscopic ablation. ***Endoscopic ablation*** - The image shows a distended bladder with a dilated, elongated posterior urethra and a narrow stream of contrast beyond the bladder neck, characteristic findings of **posterior urethral valves (PUV)**. - **Endoscopic ablation (incision or fulguration)** of the valves is the definitive treatment for PUV to relieve obstruction and prevent further kidney damage. - This is the **gold standard primary treatment** for PUV in children who are large enough to undergo the procedure safely. *Dilation of urethra* - **Dilation** is generally ineffective because PUV are folds of tissue that require incision rather than simple stretching. - This approach does not address the underlying anatomical obstruction caused by the valves and could potentially cause damage to the urethra. *Dilation of urethra and bladder* - **Dilation of the urethra** is not an effective treatment for PUV. The bladder is already dilated due to the obstruction, and further dilation would not resolve the issue. - This approach would not remove the obstruction and could worsen bladder function or lead to further complications like reflux. *Conservative* - **Conservative management** with watchful waiting is not appropriate for PUV, as untreated obstruction can lead to progressive and irreversible kidney damage, bladder dysfunction, and recurrent UTIs. - Timely intervention is crucial to preserve renal function and improve long-term outcomes in boys with PUV. *Vesicostomy* - **Vesicostomy** (temporary bladder diversion) is reserved for specific scenarios such as neonates or very young infants too small for safe endoscopic ablation, severe hydronephrosis with renal failure, or failed primary ablation. - In this **3-year-old child**, endoscopic ablation is preferred as the primary definitive treatment rather than temporary diversion, which would require a second procedure later.

Q: A 6-week-old child with a history of vomiting undergoes an ultrasound, which shows an antral nipple sign or target sign, as shown in the image. What is the diagnosis?

Congenital pyloric stenosis. ***Congenital pyloric stenosis*** - The ultrasound findings of an **antral nipple sign** and **target sign** are classic indicators of **hypertrophic pyloric stenosis**. - This condition presents with **projectile vomiting** in infants, typically between 3-6 weeks of age, due to hypertrophy of the pyloric muscle. *Umbilical hernia* - An **umbilical hernia** is a protrusion of abdominal contents through the umbilical ring. It is usually diagnosed clinically and presents as a bulge, not with vomiting. - Ultrasound for an umbilical hernia would show bowel loops or omentum protruding through the abdominal wall defect, not the specific pyloric signs described. *Small bowel obstruction* - While small bowel obstruction can cause vomiting, the ultrasound findings would typically show **dilated loops of bowel** and a **transition point**, not an antral nipple or target sign specifically at the pylorus. - Other clinical features, such as abdominal distention and absence of stool, would also be more prominent. *Jejunal atresia* - **Jejunal atresia** is a congenital anomaly where part of the jejunum is underdeveloped or absent, leading to a complete obstruction. - Ultrasound would reveal **dilated loops of small bowel**, typically without peristalsis past the obstruction, and polyhydramnios antenatally, but not the specific pyloric ultrasound signs. *Duodenal atresia* - **Duodenal atresia** is a congenital obstruction of the duodenum that typically presents with bilious vomiting soon after birth. - The characteristic ultrasound finding is the **"double bubble" sign**, representing a distended stomach and proximal duodenum, not the target or antral nipple sign seen at the pylorus.

Q: A 2-year-old boy presents with a history of recurrent urinary tract infections, poor urinary stream, and failure to thrive. A voiding cystourethrogram (VCUG) is performed, and the images provided show dilated posterior urethra and a thickened bladder wall with a keyhole appearance. Based on these findings, the diagnosis of posterior urethral valves (PUV) is made. What is the management for this condition?

Endoscopic valve ablation. ***Endoscopic valve ablation*** - This is the **definitive treatment** for posterior urethral valves (PUV) as it directly addresses the anatomical obstruction. - Ablating the valves with a **cystoscope** relieves the outflow obstruction, preventing further damage to the bladder and kidneys. *Antibiotic prophylaxis and monitoring* - While important for managing recurrent UTIs and preventing future infections in children with PUV, it does **not address the underlying anatomical obstruction**. - Without surgical intervention, the obstruction would persist, leading to progressive urinary tract damage despite antibiotic use. *Suprapubic cystostomy* - This procedure involves placing a catheter directly into the bladder via the abdominal wall to **divert urine**. - It is typically a **temporary measure** used for initial decompression in severely ill patients or those with complete obstruction, not the definitive management. *Urinary diversion with vesicostomy* - Vesicostomy creates an opening between the bladder and abdominal wall for temporary urinary diversion. - This may be used in **very young infants** or critically ill patients as a temporizing measure, but **endoscopic ablation remains the definitive treatment**. *Observation with follow-up imaging* - **Observation is not appropriate** for symptomatic PUV due to the risk of progressive and irreversible renal damage. - The condition requires **prompt intervention** to relieve the obstruction and prevent long-term complications like renal failure.

Q: A child presents with a webbed neck, short stature, and a low posterior hairline. What is the most likely diagnosis?

Turner syndrome. ***Turner syndrome*** - **Turner syndrome** is characterized by the presence of a **single X chromosome (45,XO)** and is associated with a **webbed neck**, **short stature**, and a **low posterior hairline**. - Other classic features include **gonadal dysgenesis**, **cardiac anomalies** (e.g., coarctation of the aorta), and **renal anomalies**. - **Occurs only in females** due to the chromosomal abnormality. *Edwards syndrome* - **Edwards syndrome** (Trisomy 18) is characterized by severe developmental delays, a **rocker-bottom feet deformity**, **micrognathia**, and **clenched hands with overlapping fingers**. - **Webbed neck** and **short stature** are not primary distinguishing features of Edwards syndrome. *Patau syndrome* - **Patau syndrome** (Trisomy 13) is associated with severe midline defects, including **cleft lip and palate**, **polydactyly**, **microphthalmia**, and **holoprosencephaly**. - It does not typically present with a **webbed neck** or a **low posterior hairline**. *Down syndrome* - **Down syndrome** (Trisomy 21) is typically characterized by **upslanting palpebral fissures**, a **single palmar crease**, **intellectual disability**, and **cardiac defects**. - While **short stature** can be present, the classic combination of a **webbed neck** and **low posterior hairline** is not characteristic of Down syndrome. *Noonan syndrome* - **Noonan syndrome** shares phenotypic similarities with Turner syndrome, including **webbed neck**, **short stature**, and **cardiac defects** (especially pulmonary stenosis). - However, it occurs in **both males and females** with a **normal karyotype** and is caused by mutations in genes of the RAS-MAPK pathway. - Key differentiating features include **pectus excavatum**, **cryptorchidism in males**, and the absence of gonadal dysgenesis.

Question 1

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 2

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 3

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 4

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

Question 5

What is the diagnosis based on the image shown
![img-5.jpeg](img-5.jpeg)

Accepted Answer

Bladder exstrophy

Answer

Omphalocele

Answer

Umbilical hernia

Answer

Gastroschisis

Answer

Epispadias

Question 6

A 6-week-old baby is brought in by the mother with complaints of vomiting. An X-ray shows a single bubble appearance. What is the most likely diagnosis?

Accepted Answer

Congenital hypertrophic pyloric stenosis (CHPS)

Answer

Duodenal atresia

Answer

Annular pancreas

Answer

Jejunal atresia

Answer

Malrotation with midgut volvulus

Question 7

A 3-year-old child presents to the OPD with a history of recurrent urinary tract infections, poor urinary stream, and difficulty voiding. The radiological image is shown below. What is the most appropriate management?

Accepted Answer

Endoscopic ablation

Answer

Dilation of urethra

Answer

Dilation of urethra and bladder

Answer

Conservative

Answer

Vesicostomy

Question 8

A 6-week-old child with a history of vomiting undergoes an ultrasound, which shows an antral nipple sign or target sign, as shown in the image. What is the diagnosis?

Accepted Answer

Congenital pyloric stenosis

Answer

Umbilical hernia

Answer

Small bowel obstruction

Answer

Jejunal atresia

Answer

Duodenal atresia

Question 9

A 2-year-old boy presents with a history of recurrent urinary tract infections, poor urinary stream, and failure to thrive. A voiding cystourethrogram (VCUG) is performed, and the images provided show dilated posterior urethra and a thickened bladder wall with a keyhole appearance. Based on these findings, the diagnosis of posterior urethral valves (PUV) is made. What is the management for this condition?

Accepted Answer

Endoscopic valve ablation

Answer

Antibiotic prophylaxis and monitoring

Answer

Suprapubic cystostomy

Answer

Observation with follow-up imaging

Answer

Urinary diversion with vesicostomy

Question 10

A child presents with a webbed neck, short stature, and a low posterior hairline. What is the most likely diagnosis?

Accepted Answer

Turner syndrome

Answer

Edwards syndrome

Answer

Patau syndrome

Answer

Down syndrome

Answer

Noonan syndrome

Congenital defects — MCQs

Congenital defects — MCQs

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