An Unsuspected Case of Hirschsprung Disease in an Adolescent: A Case Report
Abstract
A rare adolescent presentation of previously undiagnosed Hirschsprung disease managed with staged surgical treatment.
Hirschsprung disease is a congenital disorder characterised by absence of ganglion cells within the Meissner submucosal and Auerbach myenteric plexuses. Late presentation is uncommon, with the majority of cases diagnosed during infancy.
A 15-year-old female patient presented with five days of failure to pass stool associated with abdominal distension. She had experienced persistent constipation and abdominal distension from childhood and had required repeated treatment with enemas and oral laxatives, which provided only temporary symptomatic relief.
Abdominal radiography demonstrated markedly dilated bowel loops with faecal loading. Contrast barium enema showed a transition zone involving the proximal one-third of the rectum and a reversed rectosigmoid ratio, raising suspicion of Hirschsprung disease.
Rectal biopsy confirmed aganglionosis. A decompressive sigmoid loop colostomy was initially performed. Three months later, the patient underwent a Soave pull-through procedure. The postoperative course was uneventful, and at six-month follow-up she demonstrated marked improvement in bowel function with rapid weight gain.
Adolescents with longstanding childhood-onset constipation should be assessed for the possibility of previously undiagnosed Hirschsprung disease. Appropriate diagnosis and surgical treatment can substantially improve bowel function and quality of life.
Adolescent female with longstanding constipation since childhood.
Failure to pass stool with significant abdominal distension.
Histopathology confirmed aganglionosis.
Soave pull-through performed three months after decompressive colostomy.
Childhood-Onset Constipation
The patient had recurrent constipation and abdominal distension from an early age, resulting in repeated admissions to local health centres and temporary relief with enemas and laxatives.
Chronic Illness & Distension
At presentation she appeared chronically ill and wasted, with marked abdominal distension. Rectal examination revealed loose stool with normal sphincter tone.
Transition Zone Identified
Plain abdominal radiography demonstrated substantially dilated bowel loops with faecal loading. Barium enema demonstrated a transition zone and reversed rectosigmoid ratio suggestive of Hirschsprung disease.
Rectosigmoid Transition
Surgical exploration revealed a transition zone at the rectosigmoid junction with marked dilatation of the proximal colon.
Decompressive Sigmoid Loop Colostomy
A diverting decompressive loop colostomy was performed, with tissue samples obtained from the rectum and colostomy site for histopathological examination.
Aganglionic Rectum Confirmed
Histopathology demonstrated an aganglionic rectum and a ganglionated colostomy site, confirming the diagnosis and helping guide definitive surgery.
Soave Pull-Through
Three months after initial decompression, the patient underwent a Soave pull-through procedure as the definitive surgical treatment.
Marked Clinical Improvement
At six months the patient reported dramatic improvement in bowel function and demonstrated rapid weight gain, with no reported postoperative complication.
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Clinical Case Report
The article describes an uncommon adolescent presentation of Hirschsprung disease in a patient with longstanding childhood-onset constipation and abdominal distension.
SCARE Criteria
The published article states that the case report was prepared in accordance with the SCARE case-report criteria.
15-Year-Old Female
The patient presented with acute failure to pass stool superimposed on a longstanding history of constipation and abdominal distension dating from childhood.
Radiography & Contrast Enema
Abdominal radiography demonstrated dilated bowel loops with faecal loading. Contrast enema showed a transition zone with reversed rectosigmoid ratio.
Rectal Histopathology
Histopathological examination confirmed an aganglionic rectum and a ganglionated colostomy site, establishing the diagnosis of Hirschsprung disease.
Two-Stage Management
Given malnutrition, marked bowel dilatation and the unavailability of frozen-section pathology, the clinical team selected staged treatment with initial diverting sigmoid loop colostomy followed by definitive pull-through.
Soave Pull-Through
Three months after decompression, the patient underwent a Soave pull-through procedure. This technique is described in the article as the preferred approach at the authors’ institution.
Uneventful Recovery
The postoperative course was uneventful. At six-month follow-up the patient reported marked improvement in bowel function and experienced rapid weight gain.
Not Required by Institution
The published article states that this type of study does not require ethical approval at the authors’ institution.
Written Maternal Consent
Written informed consent was obtained from the patient’s mother for publication of the case report and accompanying images. The article states that a copy of the written consent is available on request.
Contributor Statement
Equal contributions.
Conflict of Interest & Funding
Conflict of Interest:
No conflict of interest.
Funding:
No funding received by the authors.
Not Applicable
The published article records the acknowledgements section as not applicable.
Editorial Timeline
CC BY 4.0
This article is published by The Operating Room Global
Journal under the Creative Commons Attribution 4.0
International licence.
DOI: 10.64573/torgj2512007
Volume 2 · Issue 1 · 2026
The Operating Room Global Journal (TORGJ). ISSN 3105-3262. Article DOI: 10.64573/torgj2512007.
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