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This report aims to highlight the unique challenges in diagnosing and treating familial adult-onset chronic idiopathic megacolon.

Familial adult-onset chronic idiopathic megacolon: diagnostic and surgical challenges—a case report

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This report aims to highlight the unique challenges in diagnosing and treating familial adult-onset chronic idiopathic megacolon.
Documented case of an adult male with chronic idiopathic megacolon
Conducted differential diagnosis to exclude secondary causes
Performed subtotal colectomy with ileorectal anastomosis
Histopathological examination of colonic tissue
Diagnosis of chronic idiopathic megacolon confirmed after excluding secondary causes
Conservative management was ineffective, leading to surgical intervention
Subtotal colectomy resulted in complete symptom resolution
Histopathology revealed normal ganglion cells, supporting diagnosis

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Case report demonstrating diagnostic and therapeutic challenges of chronic idiopathic megacolon in an adult, suggesting a genetic basis.

Shbaro et al. (2026) studied this question.

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