Chronic constipation and abdominal distension in a patient with adult Hirschprung’s disease and bilateral ovarian teratomas

TL;DR

A 29-year-old woman with long-term constipation was diagnosed with Hirschprung’s disease and had large ovarian cysts discovered during her evaluation.

Contribution

This paper presents a rare case of Hirschprung’s disease diagnosed in adulthood alongside bilateral ovarian teratomas.

Findings

Diagnostic colonoscopy revealed aganglionic bowel consistent with Hirschprung’s disease.

CT scan identified large, bilateral ovarian dermoid cysts.

Histopathology confirmed absence of ganglionic cells using calretinin immunostaining.

Abstract

Hirschprung’s disease is a congenital disorder characterized by aganglionic bowel, usually diagnosed in infancy. Here, we present a unique case of Hirschprung’s disease diagnosed in a 29-year-old female with acute on chronic constipation. As part of her work up, a computerized tomography of her abdomen and pelvis revealed large, bilateral dermoid cysts. A diagnostic and therapeutic colonoscopy allowed manual disimpaction and decompression of her bowel, as well as biopsy attainment. Histopathology revealed absence of ganglionic cells on haematoxylin and eosin stain and calretinin immunostaining. This case underscores the diagnostic challenges of Adult Hirschprung’s disease and how this impacts patient quality of life, as well as the work up and management of concurrent causes abdominopelvic conditions.

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