Hirschsprung disease

Purpose of review Hirschsprung disease is relatively common in children. Surgical techniques are available to remove the aganglionic bowel and reconstruct the intestinal tract. Despite many advances, these children may still be difficult to diagnose, and may have ongoing functional problems after surgical correction. Recent findings The genetic basis and cause of Hirschsprung disease are becoming increasingly clearer. Definitive diagnosis is based on rectal biopsy, but more sophisticated techniques are permitting earlier and more accurate diagnosis. Surgical correction has evolved from routine use of a colostomy and open laparotomy to one-stage transanal and laparoscopic approaches. The range of postoperative problems is reviewed so that the practicing pediatrician and primary care physician can effectively care for these children. Future advances may include better genotype-phenotype correlation and development of neuronal stem cell techniques. Summary Pediatricians and primary care physicians have an important role to play in diagnosing and managing children with Hirschsprung disease.