Diagnosing and Managing Hirschsprung Disease in the Newborn

Abstract

Hirschsprung disease is characterized by the absence of enteric ganglia in the distal bowel and is caused by the failure of enteric neural crest–derived cells to complete their craniocaudal migration along the intestine during embryogenesis. Neonates typically present with failure to pass meconium within the first 48 hours after birth. Diagnosis relies on rectal biopsy to document the presence of aganglionosis, and management requires surgical resection of the aganglionic segment. Despite advances in the diagnosis and management of the disease, patients remain at risk for long-term gastrointestinal morbidity, including obstructive symptoms, fecal incontinence, and enterocolitis, with negative implications on quality of life. Neuronal stem cell–based therapy is being explored as a novel treatment for this disease.