Hirschsprung Disease (HD)

Obstructed neonate, full stomach - Failure to pass meconium within the first 48 hours occurs in up to 90%, alongside bilious emesis, obstipation, and abdominal distension. Decompress with an orogastric tube first, then RSI. Maternal polyhydramnios in the chart is another pointer to a prenatal obstruction.

Enterocolitis is what makes these cases sick - Hirschsprung-associated enterocolitis (HAEC) is the most devastating complication: diarrhea, abdominal distention, and systemic manifestations. Definite and severe HAEC is managed with IV fluid resuscitation and broad-spectrum antibiotics before anything else. If HAEC is the reason the child is on your list, expect a septic, hypovolemic infant rather than a routine pull-through.

Resuscitate before you induce - Vomiting, diarrhea, and third-spacing into distended bowel deplete these babies, and fluid and electrolyte replacement is part of standard HAEC management. Give the volume first; an infant with an empty tank will not tolerate an induction dose.

Preoperative rectal irrigation helps you too - Irrigation before surgery decompresses the colon and is recommended specifically to reduce enterocolitis risk. A decompressed abdomen splints the diaphragm less and gives you better compliance at induction.

Know which operation is booked - Short-segment disease without comorbidities goes to a single-stage pull-through, and a transanal Soave in the neonatal period can avoid an abdominal incision entirely. HAEC or a markedly dilated colon gets a decompressive colostomy first, with the definitive pull-through four to six months later. The abdominal approaches change your access, your fluid plan, and your postoperative disposition.

Positioning for the perineal work - Transanal pull-through and the Soave dilations put the surgeon at the perineum with the airway turned away from you. Secure the tube, then reconfirm depth and breath sounds after the child is positioned.

Check the syndrome workup - HD is reported with trisomy 21 and with neurocristopathies such as Waardenburg syndrome. Review the genetics and any cardiac workup already on file before you plan the airway and the anesthetic; the syndrome, not the colon, may be the harder problem.

Keep the baby warm - An exposed neonatal abdomen and irrigation fluid strip heat quickly. Forced-air warming, warmed irrigation and IV fluids, and a warm room from the start of the case.

Expect repeat anesthetics - Anastomotic leak occurs in up to 1.5%, with stricture, wound infection, and bleeding on the list as well. Frequent mechanical anastomotic dilations follow a Soave procedure, so document what worked — you or a colleague will see this child again.

Hirschsprung disease (HD) is the congenital absence of ganglion cells in the Meissner (submucosal) and Auerbach (myenteric) plexuses of the terminal rectum, extending a variable distance proximally. Neural crest cells fail to complete their migration into the enteric nervous system, a process governed largely by the RET proto-oncogene. Without those inhibitory ganglion cells the aganglionic segment stays tonically contracted while acetylcholine release continues, and the healthy colon above it dilates progressively.

The rectosigmoid alone is involved in about 80% of cases, disease extends past the sigmoid in 15% to 20%, and the entire colon is aganglionic in 5%. Incidence is roughly 1 in 5,000 live births with a 4:1 male predominance, and 65% are diagnosed before one month of age. Perioperatively HD presents as a distended, obstructed neonate at risk of enterocolitis and sepsis.