Hirschsprung Disease: Diagnosis to Long-Term Management

Hirschsprung disease results from absent ganglion cells in the distal colon, causing a contracted aganglionic segment that cannot relax and a dilated proximal colon [e13877-c2, e13877-c3]. Definitive diagnosis requires rectal biopsy demonstrating both absent ganglion cells and hypertrophic nerve trunks >40 microns [e13821-c10, e13877-c19]. Contrast enema typically shows rectosigmoid ratio <1 and sawtoothing from hyperperistalsis [e13821-c13, e13848-c8]. Initial management centers on rectal irrigations using 20 mL/kg warm saline 2–3 times daily to prevent enterocolitis [e13821-c3, e13870-c13]. Modern surgical technique—transanal ± laparoscopic assistance—allows single-stage primary pull-through in the first week of life [e13877-c24, e13877-c25]. The Swenson full-thickness rectal dissection remains foundational; contemporary Soave procedures use minimal (<1 cm) cuffs that must be split [e13818-c5, e13864-c14]. Frozen section can rule out Hirschsprung (by showing ganglion cells) but cannot confirm it, as confirmation requires 100 levels without ganglion cells . Post-pull-through problems divide into obstruction (cuff, stricture, twist, transition-zone pull-through) and soiling (sphincter injury, hypermotility); methodical evaluation with contrast study and EUA identifies correctable pathology in most cases [e13875-c2, e13875-c38]. Enterocolitis persists in some patients despite anatomically correct surgery because preserved sphincters cannot relax . Botox at sphincter level is under investigation for enterocolitis prevention, though one published trial was negative [e13848-c29, e13848-c30].