Practice questions, congenital GI disorders

Practice questions
Congenital GI disorders
Updated: 03/01/2019
© Jun Wang, MD, PhD
1. Use this image for this question. A new born boy has thick oral secretions and choke after suckling, followed by respiratory distress. The prenatal course is significant for polyhydramnios. Physical examination is unremarkable. The neonatologist failed to insert a nasogastric tube to stomach. An image of his chest X-ray with contrast is shown. What is the diagnosis?

(image credit: DrM!key/WikiCommons)
A. Diaphragmatic hernia
B. Esophageal atresia
C. Esophageal duplication
D. Tracheoesophagial fistula
E. Vacterl syndrome

2. Use this image and this case for the next 2 questions. A 1-month-old girl presents with coughing and choking with feed and recurrent bilateral pneumonia since birth. The prenatal and delivery course are unremarkable. An image of chest X-ray with contrast is shown. What is the diagnosis?

(Image credit: Kinderradiologie Olgahospital Klinikum Stuttgart/WikiCommons)
A. Diaphragmatic hernia
B. Esophageal atresia
C. Pulmonary hypoplasia
D. Tracheoesophagial fistula
E. Vacterl syndrome

3. A 1-month-old girl presents with coughing and choking with feed and recurrent bilateral pneumonia since birth. The prenatal and delivery course are unremarkable. An image of chest X-ray with contrast is shown. What is the cause of these findings?

(Image credit: Kinderradiologie Olgahospital Klinikum Stuttgart/WikiCommons)
A. Abnormal fetal gut rotation
B. Diaphragm defect
C. Failure of vitelline duct involution
D. Rupture of amnion in second trimester
E. Tracheoesophageal septum abnormality


4. A three-day-old boy presents with recurrent choking following suckling since birth. Prenatal and delivery course are unremarkable. Physical examination reveals scoliosis towards right side, and absence of thumb on right hand. Image studies reveals hemi-vertebrae, and absence of right radius and thumb. Left kidney is absent as well. What is the likely the cause of his recurrent choking after suckling?
A. Gastroschisis
B. Omphalocele
C. Pulmonary hypoplasia
D. Thymus hypoplasia
E. Tracheoesophageal fistula

5. Use this image and this case for the next 2 questions. A full term new born boy was found to have a periumbilical swelling. The swelling appear to be translucent and normal appearing intestines can be seen through the covering. No other abnormalities are noted. What is the diagnosis?
A. Diaphragmatic hernia
B. Gastroschisis
C. Meckel diverticulum
D. Omphalocele
E. Umbilical hernia

6. A full term new born boy was found to have a periumbilical swelling. The swelling appear to be translucent and normal appearing intestines can be seen through the covering. No other abnormalities are noted. What is the cause of these findings?
A. Abnormal fetal gut rotation
B. Diaphragm defect
C. Failure of vitelline duct involution
D. Rupture of amnion in second trimester
E. Tracheoesophageal septum abnormality


7. Use this case for the next 2 questions. A new born full term boy presents with sudden respiratory distress. The prenatal and delivery course are unremarkable. Chest X-ray reveal may air bubble like structures in his left chest. The mediastinum is shifted to the right. No other abnormalities are noted. What is the diagnosis?
A. Diaphragmatic hernia
B. Esophageal atresia
C. Hirschprung disease
D. Pneumothorax
E. Tracheoesophagus fistula

8. A new born full term boy presents with sudden respiratory distress. The prenatal and delivery course are unremarkable. Chest X-ray reveal may air bubble like structures in his left chest. The mediastinum is shifted to the right. No other abnormalities are noted. What is the cause of his respiratory distress?
A. Aspiration
B. Pneumonia
C. Pneumothorax
D. Pulmonary hypoplasia
E. Thoracic cage abnormality


9. Use this image and this case for the next 2 questions. A 2-week-old boy presents with non-bilious vomiting after feeding. The prenatal course and delivery process are unremarkable. Physical examination reveals body weight at the 10th percentile, and height at 75th percentile. A firm mass is noted at right upper abdomen. No other abnormalities are noted. An image of the sonographic exam is shown. What is the diagnosis?

(Image credit: Doc James, wiki commons)
A. Diaphragmatic hernia
B. Esophageal atresia
C. Hirschprung disease
D. Pyloric stenosis
E. Tracheoesophagus fistula

10. A 2-week-old boy presents with non-bilious vomiting after feeding. The prenatal course and delivery process are unremarkable. Physical examination reveals body weight at the 10th percentile, and height at 75th percentile. A firm mass is noted at right upper abdomen. No other abnormalities are noted. An image of the sonographic exam is shown. What is the cause of his symptoms?

(Image credit: Doc James, wiki commons)
A. Gastrointestinal stromal tumor
B. Helicobacter gastritis
C. Menetrier’s disease
D. Pyloric smooth muscle neoplasm
E. Pyloric sphincter hypertrophy


11. Use this image and this case for the next 2 questions. A 21-year-old man presents with fever, vomiting and dull right lower abdominal pain for 5 hours. His past medical history is unremarkable. His temperature is 39.2 degree Celsius. Other vital signs are normal.  Physical examination reveals slightly rigid abdomen with tenderness and rebound tenderness, worst at lower abdomen. Laboratory tests reveal a white cell count of 15 x 109/L (normal 4.5-10.3 x 109/L) with left shift. No immature cells are seen. Laparotomy reveals a necrotic appendix. In addition, a lesion as shown in the image is seen at terminal ileum. What is the diagnosis?


(Image credit: Milliways Wiki Commons)
A. Carcinoid
B. Ileal fistula
C. Hirschsprung disease
D. Meckel diverticulum
E. Mesothelioma

12. A 21-year-old man presents with fever, vomiting and dull right lower abdominal pain for 5 hours. His past medical history is unremarkable. His temperature is 39.2 degree Celsius. Other vital signs are normal.  Physical examination reveals slightly rigid abdomen with tenderness and rebound tenderness, worst at lower abdomen. Laboratory tests reveal a white cell count of 15 x 109/L (normal 4.5-10.3 x 109/L) with left shift. No immature cells are seen. Laparotomy reveals a necrotic appendix. In addition, a lesion as shown in the image is seen at terminal ileum. What is the cause of these findings?


(Image credit: Milliways Wiki Commons)
A. Abnormal fetal gut rotation
B. Developmental failure of enteric ganglions
C. Hypergastrinemia
D. Failure of vitelline duct involution
E. Rupture of amnion in second trimester


13. Use this image and this case for the next 3 questions. An 8-year-old boy presents with progressive abdominal distension for a year. He has a history of constipation since age 3. Physical examination reveals a distended abdomen with tympany to percussion. Laboratory tests results are unremarkable. Abdominal X-ray reveals markedly dilated colonic loops. An image of barium enema is shown. What is most likely the diagnosis?
A. Carcinoid
B. Ileal fistula
C. Hirschsprung disease
D. Meckel diverticulum
E. Mesothelioma
14. An 8-year-old boy presents with progressive abdominal distension for a year. He has a history of constipation since age 3. Physical examination reveals a distended abdomen with tympany to percussion. Laboratory tests results are unremarkable. Abdominal X-ray reveals markedly dilated colonic loops. An image of barium enema is shown. What is most likely the causing these changes?

A. Abnormal fetal gut rotation
B. Developmental failure of enteric ganglions
C. Hypergastrinemia
D. Failure of vitelline duct involution
E. Rupture of amnion in second trimester

15. An 8-year-old boy presents with progressive abdominal distension for a year. He has a history of constipation since age 3. Physical examination reveals a distended abdomen with tympany to percussion. Laboratory tests results are unremarkable. Abdominal X-ray reveals markedly dilated colonic loops. An image of barium enema is shown. Mutation of what gene is associated with these changes?

A. APC
B. EGFR
C. MEN1
D. RET
E. WT1

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