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

TL;DR

A rare adult case of chronic megacolon with family history highlights diagnostic and surgical challenges and suggests a possible genetic cause.

Contribution

Reports a rare adult-onset idiopathic megacolon case with familial predisposition and successful surgical treatment.

Findings

Chronic idiopathic megacolon diagnosed in a 30-year-old with family history and prior colectomy.

Subtotal colectomy with ileorectal anastomosis resolved symptoms and histopathology showed normal ganglion cells.

Suggests genetic susceptibility and highlights subtotal colectomy as an effective treatment in refractory cases.

Abstract

Chronic idiopathic megacolon is a rare disorder characterized by persistent colonic dilatation without obstruction or secondary causes. It is usually diagnosed in childhood, often linked to Hirschsprung’s disease; adult-onset cases are exceedingly rare, especially with familial predisposition. We report a man in his 30s with progressive abdominal distension, prior adolescent colectomy, and family history suggesting genetic susceptibility. After excluding secondary causes, chronic idiopathic megacolon was diagnosed. Conservative management failed, necessitating subtotal colectomy with ileorectal anastomosis, leading to complete symptom resolution. Histopathology confirmed normal ganglion cells. Adult-onset idiopathic megacolon poses diagnostic and therapeutic challenges and may have a genetic basis. Subtotal colectomy is safe and effective in refractory cases.

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