Related Experiment Video
Updated: Aug 29, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
[Complete rectal prolapse in a patient with Hirschsprung disease: a clinical case]
G Candela1, M Grillo, M Campione
1Seconda Università degli Studi di Napoli.
Insights
Hirschsprung disease (HD), a rare congenital condition, can manifest in adults. This case highlights successful surgical treatment for a young female with HD and rectal prolapse, leading to symptom remission.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Genetics
Background:
- Hirschsprung disease (HD) is a rare congenital disorder characterized by the absence of ganglion cells in the distal bowel.
- While typically diagnosed in infancy, HD can present in adulthood with varied symptoms.
- Associated genetic mutations can lead to diverse pathologies and malformations.
Observation:
- A young female presented with chronic constipation, tenesmus, and abdominal pain.
- Physical examination revealed complete rectal prolapse with mucosal ulcerations.
- Diagnostic studies confirmed Hirschsprung disease.
Findings:
- The patient underwent surgical correction using the Frykman and Goldberg technique.
- Postoperative follow-up showed complete symptom remission.
- Rectoanal inhibitory reflex normalized after surgery.
Implications:
- The study suggests ultrashort HD may predispose individuals to rectal prolapse due to subocclusive phenomena and straining.
- Early diagnosis and surgical intervention are crucial for managing HD and associated complications.
- This case underscores the importance of considering HD in adult patients with chronic constipation and rectal prolapse.
Abstract:
The disease of Mya-Hirschsprung (HD) it's rare and congenital, usually diagnosed in child age, but that it can also remain unknown until the adult age. It's associated to genetic mutations and it can involve other pathologies and malformations. The variability of the anatomopathological and clinical phenomena is correlated to the length of the aganglionic segment. The Authors describe the clinical case of one young female patient, who presented chronic constipation (less than 3 evacuations to week), tenesm, meteorism, abdominal pain. To the inspection of the anal region after the evacuation the presence of complete rectal prolapse (3) cylinders of the length of 30 cm was appraised, with presence of ulcerations of the mucosa. The patient came subordinate to diagnostic study that they demonstrated the presence of HD. The Authors operated the patient with the technique of Frykman and Goldberg. In the follow-up the patient had the complete remission of the symptomatology and resumption of the rectoanal inhibitory reflex, remarkable diminished in the preoperative manometric examination. The pathogenesis of the association of HD and rectal prolapse goes searched in the presence of ultrashort HD (aganglionic defect of a limited segment of rectum), pathological variety somewhat rare that can determine subocclusive phenomena and that it favors the prolapse of the rectum for the continuous evacuating strains.
Related Concept Videos
Inflammatory Bowel Disease V: Surgical Management
Here are some common surgical interventions for IBD:
Assessment of the Rectum and Anus
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
Diverticular Disease of the Colon