Hirschsprung Disease

48 hour old infant with h/o trisomy 21, genitourinary anomalies, hearing impairment presents with delayed passage of meconium. Parents report bilious vomiting, decreased appetite. Fever, weight loss, abdominal distention, perforate anus, tight anal sphincter, empty rectum, squirt sign on exam.

• Obtain CBC, CMP

• Consider abdominal x-ray

• Obtain anorectal manometry, rectal suction biopsy

• Consider additional screening for congenital abnormalities of kidney/urinary tract (CAKUT)

• Parents advised that definitive management will include surgery

• Refer to pediatric surgeon

Notes

• Most common cause of lower intestinal obstruction in neonates

• Squirt sign is passage of stool with introduction of finger into rectum

• Suction biopsy show intestinal aganglionosis extending 2-4 cm proximal to internal anal sphincter