Related Experiment Video
Updated: Jun 2, 2026
05:45
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
Skip segment Hirschsprung's disease: a rare phenomenon.
Takashi Doi1, Anne-Marie O'Donnell, Michael McDermott
1The Children's Research Centre, Dublin, Ireland. Takashi.doi@ucd.ie
Pediatric Surgery International
|April 26, 2011
Summary
Skip segment Hirschsprung's disease (SSHD) is a rare condition with a normal ganglionated segment within aganglionic bowel. This case report details SSHD in an infant with total colonic aganglionosis, supporting SSHD as a distinct entity.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Medical Genetics
Background:
- Hirschsprung's disease (HSCR) is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
- Skip segment Hirschsprung's disease (SSHD) presents a unique challenge, defined by normally innervated bowel segments within the aganglionic region.
Observation:
- This report details a rare case of SSHD in an infant diagnosed with total colonic aganglionosis (TCA).
- The infant presented with clinical and pathological findings consistent with both SSHD and TCA.
Findings:
- The study confirms the existence of SSHD, even in complex cases involving total colonic aganglionosis.
- Diagnostic evaluation identified a distinct skip segment of normally ganglionated intestine amidst extensive aganglionosis.
Implications:
- SSHD should be recognized as a definitive entity in the diagnostic spectrum of Hirschsprung's disease.
- This understanding can refine diagnostic and surgical approaches for complex HSCR cases.
- Further research into the genetic and developmental mechanisms of SSHD is warranted.
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