Ch. 332.4 - Congenital Aganglionic Megacolon (Hirschsprung Disease)

Question 1

MCC of lower intestinal obstruction in neonates

Answer 1

Hirschsprung disease

Question 2

Hirschsprung disease, gender

Answer 2

Male

Question 3

Hirschsprung disease is the result of absence of

Answer 3

Ganglion cells in the submucosal and myenteric plexus

Question 4

T/F Hirschsprung disease is usually sporadic

Answer 4

T

Question 5

In Hirschsprung disease, the aganglionic segment is limited to the ___ in 80% of patients

Answer 5

Rectosigmoid

Question 6

Long-segment Hirschsprung disease is defined as

Answer 6

Proximal to the sigmoid colon

Question 7

Enzyme found in high concentrations between muscular layers and in the submucosa seen in Hirschsprung disease

Answer 7

Acetylcholinesterase

Question 8

Hirschsprung disease is usually diagnosed in what period

Answer 8

Neonatal

Question 9

In 99% of healthy full-term infants, meconium is passed within ___

Answer 9

48 hrs of birth

Question 10

T/F Hirschsprung disease is unusual in preterm infants

Answer 10

T

Question 11

Hirschsprung disease is seen on barium enema as

Answer 11

Delayed evacuation of contrast (>24 hrs), and transition zone

Question 12

T/F In Hirschsprung disease, the rectum is usually empty of feces

Answer 12

T

Question 13

T/F In Hirschprung disease, stools are usually large

Answer 13

F, small pellets, ribbon-like, fluid consistency

Question 14

In older infants, the Currarino triad must be considered as a differential diagnosis for Hirschprung disease; the triad consists of

Answer 14

1) Anorectal malformations 2) Sacral bone anomalies 3) Presacral anomaly

Question 15

Gold standard for diagnosing Hirschsprung disease

Answer 15

Rectal suction biopsy

Question 16

In rectal biopsy for Hirschsprung disease, biopsy material should contain adequate amount of ___ to evaluate for the presence of ganglion cells

Answer 16

Submucosa

Question 17

Rectal suction biopsy should be obtained no closer than ___ above the dentate line to avoid obtaining biopsies from normal area of hypoganglionosis

Answer 17

2 cm

Question 18

In anorectal manometry, a balloon is distended in the rectum and the normal response is

Answer 18

Relaxation of the internal sphincter

Question 19

In the absence of classic findings of Hirschsprung disease with the use of contrast enema, it is imperative to compare the rectal diameter with the sigmoid diameter. ___ suggests Hirschprung disease

Answer 19

Rectal diameter ≤ sigmoid diameter

Question 20

T/F A normal contrast enema rules out Hirschsprung disease

Answer 20

F, normal in 10% of affected patients

Question 21

Hirschsprung disease where the aganglionic segment is limited to the internal sphincter

Answer 21

Ultra-short segment Hirschsprung disease

Question 22

Hirschprung disease where ganglion cells are present on rectal suction biopsy but anorectal manometry is abnormal

Answer 22

Ultra-short segment Hirschsprung disease

Question 23

Long-segment Hirschsprung disease involves what segments of the bowel

Answer 23

Entire colon and at times part of the small bowel

Question 24

Treatment of choice for long-segment Hirschsprung disease

Answer 24

Ileal-anal anastomosis, preserving part of the aganglionic colon to facilitate water absorption