Practice question answers congenital GI disorders

Practice question answers

Congenital GI disorders

Updated: 03/01/2019

© Jun Wang, MD, PhD

1. B. Presentation of choke after suckling is suggestive for esophageal atresia or tracheoesophageal fistula. Failure of passing nasogastric tube to stomach is consistent with esophageal atresia. Image studies reveal blind end of esophagus without contrast in trachea ruled out tracheoesophageal fistula. Diaphragmatic hernia has abdominal organs in chest. Esophageal duplication has rounded fluid/soft tissue density on radiograph, not blind end. Vacterl syndrome has at least three of the following disorders: Vertebral abnormalities, Anorectal abnormalities, Cardiac defects, TracheoEsophageal fistula, Renal anomalies, and Limb deformities.

2. D. Coughing and choking with feed and recurrent bilateral pneumonia since birth is highly suggestive of tracheoesophageal fistula, as confirmed by the H-shaped contrast distribution. Also see discussion of question 1.

3. E. Tracheoesophageal fistula is associated with in complete separation of trachea from esophagus due to tracheoesophageal septum abnormality. Abnormal fetal gut rotation is associated with omphalocele. Diaphragm defect is associated with diaphragmatic hernia. Failure of vitelline duct involution is associated with Meckel diverticulum. Rupture of amnion in second trimester is probably associated with gastroschisis.

4. E. This patient has multiple deformalities including Vertebral abnormalities, Renal anomalies, Limb deformities and clinical presentation of choking following suckling. These features are highly suggestive of Vacterl syndrome, that commonly has tracheoesophageal fistula. Omphalocele and gastroschisis are abdominal wall defects that result in exposure of abdominal organs, with or without membranous covering. Pulmonary hypoplasia is associated with diaphragmatic hernia and any conditions that may cause oligohydramnios, including autosomal recessive polycystic kidney disease. Thymus hypoplasia is associated with DiGeorge syndrome and severe combined immunodeficiency.

5. D. Omphalocele and gastroschisis are abdominal wall defects that result in exposure of abdominal organs, with or without membranous covering. Diaphragmatic hernia is diaphragm defect resulting abdominal organs herniated into chest. Meckel diverticulum is a outpouching of terminal ileum, usually not associated with abdominal wall defects. Umbilical hernia does not have near full thickness abdominal wall defect, and the internal organs are not visible through abdominal wall.

6. A. See discussion of question 3.

7. A. Diaphragmatic hernia is diaphragm defect resulting abdominal organs herniated into chest. Esophageal atresia has blind end of esophagus that can be detected by image studies. Hirschprung disease has markedly dilated colon within abdominal cavity. Pneumothorax has clear air in the pleural cavity, not intestines. Tracheoesophageal fistula is seen as contrast in both esophagus and trachea.

8. D. In patients with diaphragmatic hernia the lungs are usually hypoplastic, due to compressions.

9. D. Non-bilious vomiting after feeding, PE finding of right upper with sonographic findings of elongated and thickened pylorus is most consistent with pyloric stenosis. Also see discussion of question 7.

10. E. Pyloric stenosis is associated with pyloric sphincter hypertrophy. GIST and smooth muscle tumors occur usually in older population and presents as a mass. Helicobacter gastritis and Menetrier disease do not have elongated and thickened pylorus.

11. D. Meckel diverticulum is a outpouching of terminal ileum from the antimesenteric side. Carcinoid and mesothelioma are solid tumors, more commonly seen in adults. Fistula is a connection between two hollow organs. Hirschprung disease has markedly dilated colon within abdominal cavity.

12. D. See discussion of question 3. Developmental failure of enteric ganglion is associated with Hirschprung disease.

13. C. See discussion of question 11.

14. B. Developmental failure of enteric ganglion is associated with Hirschprung disease.

See discussion of question 3.

15. D. Hirschprung disease is associated with RET mutation. APC mutation is seen in various GI tract adenocarcinomas, including intestinal type gastric adenocarcinoma and colon adenocarcinoma. EGFR mutation can be seen in adenocarcinoma of lung. MEN1 mutation is seen in multiple endocrine neoplasia 1. WT1 mutation can be seen in Wilms tumor.

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