Gastrointestinal · Year 2 · from Gastrointestinal
Case 3: Hirschsprung Disease
Patient Presentation
Demographics: 3-day-old male neonate
Chief Complaint: Failure to pass meconium, abdominal distension
History of Present Illness: Full-term male born via uncomplicated vaginal delivery has not passed meconium in the first 48 hours of life. The nursing staff noted progressive abdominal distension. The infant is feeding poorly and has had one episode of bilious vomiting.
Birth History: Term delivery, Apgar 8/9, birth weight 3.4 kg
Physical Examination
- Vital Signs: Temperature 37.2C, HR 150 bpm, RR 48/min
- General: Irritable neonate with distended abdomen
- Abdomen: Markedly distended, tympanitic, visible bowel loops, no peritoneal signs
- Rectal: Tight anal sphincter; after examination, explosive release of stool and gas with temporary relief of distension
Workup and Results
- Abdominal X-ray: Dilated bowel loops with absence of air in the rectum
- Contrast Enema: Transition zone in the rectosigmoid with dilated proximal colon
- Rectal Suction Biopsy: Absence of ganglion cells in the submucosal and myenteric plexuses; hypertrophied nerve fibers present
Contrast enema demonstrating the transition zone in Hirschsprung disease, with narrow aganglionic distal segment and dilated ganglionic proximal colon.
Image Source: Case courtesy of Radiopaedia.org
Diagnosis
Hirschsprung Disease (Congenital Aganglionic Megacolon)
Clinical Correlation to Enteric Nervous System
Hirschsprung disease results from failure of neural crest cell migration during embryonic development, producing an aganglionic segment of distal colon lacking both myenteric (Auerbach's) and submucosal (Meissner's) plexuses. Without enteric nervous system ganglia, the affected segment cannot relax, maintaining tonic contraction that creates functional obstruction. The normal proximal colon dilates (megacolon) as it attempts to overcome the obstruction.
Treatment
- Initial stabilization with rectal irrigations to decompress
- Surgical resection of the aganglionic segment (pull-through procedure)
- Long-term monitoring for enterocolitis and continence issues