48. Hirschsprung disease Flashcards Preview

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Flashcards in 48. Hirschsprung disease Deck (15):
1

Hirschsprung disease- definition , findings

congenital megacolon characterized by lack of ganglion cells . enteric nervous plexuses ( both ) in distal segment of colon

2

Hischsprung disease - due to

failure of neural crest cell migration
RET MUTATION

3

Hirschsprung disease is associated with

Down syndrome

4

Hischsprung disease - diagnosis / treatment

diagnosed by rectal suction biopsy
treatment: resection

5

Hirschsprung disease present with

bilious emesis, abdominal distention and dailure to pass meconium within 48h --> chronic constipation

6

Hischsprung disease - image

Normal portion of the colon proximal to the aganglionic segment is dilated ---> transition zone

7

• In a patient with Hirschsprung disease, where is the dilated segment of the colon relative to the aganglionic segment?

Proximal

8

• What would the biopsy of a patient with Hirschsprung disease likely demonstrate?

Lack of ganglionic cells (Auerbach and Meissner plexuses) that allow relaxation of the affected bowel

9

• At birth, a baby presents with an aganglionic segment of the colon, causing him to not pass meconium. Could genetic screening be of value?

Yes, as this is Hirschsprung disease, which is associated with RET gene mutations (risk is also increased in patients with Down syndrome)

10

• Hirschsprung disease results from the failure of what process?

Neural crest cell migration

11

• A woman who heard about a condition called Hirschsprung disease wonders if her baby may have it. What symptoms would you ask about?

Inability to pass meconium after birth or chronic constipation in a child, bilious emesis, abdominal distention

12

• A newborn has bilious emesis and fails to pass meconium after 48 hours. What is the treatment for this disease? How is it diagnosed?

Treated with resection; diagnosed by rectal suction biopsy (this is Hirschsprung disease

13

• Colonoscopy is performed on a newborn with Hirschsprung disease. What will be found proximal to the diseased segment of bowel?

A transition zone (dilated portion of bowel) proximal to the diseased (aganglionic) segment

14

• Does Hirschsprung disease involve the rectum?

Yes

15

• Trisomy 21 (or Down syndrome, which increases risk for Hirschsprung disease)

.

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