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Updated: Oct 20, 2025

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
A case of ultrashort-segment Hirschsprung's disease discovered after taking polyethylene glycol electrolyte solution
1Department of Pediatric Surgery, Saku Central Hospital Advanced Care Center, Nagano 385-0051, Japan.
Insights
This case study details ultrashort-segment Hirschsprung
Area of Science:
- Pediatric Surgery
- Gastroenterology
Background:
- Hirschsprung's disease (HD) is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
- Ultrashort-segment HD involves aganglionosis limited to the rectum or rectosigmoid region.
- Diagnosis can be challenging, especially in milder forms.
Observation:
- A 4-year-old girl with a history of constipation since birth presented with acute abdominal distension.
- Imaging revealed a significant stool burden and rectal/sigmoid dilation.
- Anorectal manometry and rectal biopsy confirmed Hirschsprung's disease.
Findings:
- The patient underwent a Soave endorectal pull-through procedure.
- Postoperatively, stool frequency was initially high (4-10 times/day) but gradually decreased.
- Long-term stool frequency normalized without ongoing medication.
Implications:
- This case highlights the importance of considering ultrashort-segment HD in pediatric patients with chronic constipation.
- Surgical intervention can be effective in managing symptoms.
- The Soave procedure provided a favorable outcome in this patient.
Abstract:
We report a case of ultrashort-segment Hirschsprung's disease (HD) involving a 4-year-old girl. She was born at 29 weeks gestation from a twin pregnancy. She weighed 1013 g. After birth, she received glycerin enemas and sodium picosulfate hydrate to facilitate defecation. She passed stool once every 4-5 days. When she was 4 years old, she was medicated with polyethylene glycol electrolyte solution. After she drank the solution twice, the abdomen distended rapidly without passage of stool. An abdominal X-ray showed a stored stool mass and a barium enema study revealed dilatation from the rectum to the sigmoid colon due to the stool mass. She underwent anorectal manometry and a rectal biopsy, and was suspected to have HD. She underwent a Soave endorectal pull-through with an oblique anastomosis. She passed stool 4-10 times a day for 6 months postoperatively, but the frequency of passing stool gradually deceased without medications.
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