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Old 01-21-2013
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Arrow Billy Step 1 Questions # 99

A 2-month-old boy is brought to his pediatrician for a regular check-up. His parents report that he has a poor appetite and is very constipated. He has small bowel movements once a week, which his parents believe are very painful. Although he was at the 75th percentile for both height and weight at birth, he is currently at the 25th percentile for height and is below the 5th percentile for weight. His abdomen is distended, but his bowel sounds are normal and his abdomen does not appear to be tender. Barium enema shows a narrow rectosigmoid with a dilation of the segment above thenarrowing, and a rectosigmoid biopsy shows a conspicuous absence of acetylcholinesterasepositive ganglion cells. Which of the following genetic conditions is most commonly associated with this patient’s disease?


(A) Cystic fibrosis
(B) Down’s syndrome
(C) Sickle cell disease
(D) Tay-Sachs disease
(E) Turner’s syndrome
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Old 01-21-2013
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down syndrome
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Old 01-21-2013
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B) downs syndrome
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Old 01-21-2013
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Default Down syndrome

Due to the migration defect of neural crest cells
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Old 01-21-2013
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Quote:
Originally Posted by billy View Post
A 2-month-old boy is brought to his pediatrician for a regular check-up. His parents report that he has a poor appetite and is very constipated. He has small bowel movements once a week, which his parents believe are very painful. Although he was at the 75th percentile for both height and weight at birth, he is currently at the 25th percentile for height and is below the 5th percentile for weight. His abdomen is distended, but his bowel sounds are normal and his abdomen does not appear to be tender. Barium enema shows a narrow rectosigmoid with a dilation of the segment above thenarrowing, and a rectosigmoid biopsy shows a conspicuous absence of acetylcholinesterasepositive ganglion cells. Which of the following genetic conditions is most commonly associated with this patient’s disease?


(A) Cystic fibrosis
(B) Down’s syndrome
(C) Sickle cell disease
(D) Tay-Sachs disease
(E) Turner’s syndrome






Hirschsprug's disease - Down syndrome!!!!!!!
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Old 01-22-2013
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Default B

(B) Down’s syndrome
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Old 01-22-2013
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Down's syndrome obviously......
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Old 01-24-2013
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Correct Answer B is correct

This patient suffers from Hirschsprung’s disease, which develops when neural crest cells fail to migrate to the distal colon. Consequently, enteric neurons do not form in a segment of the rectosigmoid; these neurons are normally responsible for relaxation of the rectum to allow defecation. Ten percent of cases of Hirschprung’s disease occur in children with Down’s syndrome, caused by trisomy 21. Children with Down’s syndrome also have an increased risk of duodenal atresia, congenital heart disease, and acute lymphoblastic leukemia.
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