Paediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy – a case report

TL;DR

A case report describes a rare instance where caecal volvulus in a child led to the diagnosis of African degenerative leiomyopathy, a fatal condition causing intestinal pseudo-obstruction.

Contribution

This is the first reported case linking caecal volvulus to African degenerative leiomyopathy in a pediatric patient.

Findings

Histological analysis confirmed tiger-striped fibrosis and atrophy consistent with African degenerative leiomyopathy.

The patient's postoperative complications and death highlight the severity and poor outcomes associated with ADL.

Caecal volvulus in children should prompt investigation for underlying intestinal pseudo-obstruction.

Abstract

Caecal volvulus is a rare condition with an unknown prevalence, particularly in paediatric patients. Predisposing factors include fixation anomalies of the colon (with or without malrotation) and significant intestinal distension due to conditions such as chronic constipation, post-operative ileus, Hirschsprung disease (HD), or paediatric intestinal pseudo-obstruction (PIPO). African degenerative leiomyopathy (ADL) is a regional variant of visceral myopathy characterised by a fibrotic “tiger-striped” degeneration of the muscular layers of the colon, which causes PIPO. It is endemic to Sub-Saharan Africa and is associated with poor outcomes. To our knowledge, this is the first case in which a caecal volvulus led to the diagnosis of ADL.

An 11-year-old female, previously healthy, presented with a 2-day history of abdominal distension, bilious vomiting, and constipation. Abdominal radiography and a computed tomography (CT) scan were suggestive of a colonic volvulus. Endoscopic reduction was unsuccessful, and exploratory laparotomy revealed a caecal volvulus. A limited right hemicolectomy and end ileostomy were performed. Histology revealed the typical myopathic changes with “tiger-striped” fibrosis and atrophy. Postoperatively, she experienced recurrent episodes of bowel pseudo-obstruction. A full-thickness rectal biopsy confirmed the presence of ganglion cells, excluding HD and further supporting the diagnosis of ADL. The patient, unfortunately, died 6 months later due to abdominal compartment syndrome.

ADL is a rare and often fatal condition associated with intermittent bowel obstruction and systemic complications, including cardiac and urologic abnormalities. In paediatric patients, caecal volvulus should prompt consideration of PIPO as an underlying diagnosis.

The online version contains supplementary material available at 10.1007/s00384-026-05093-y.

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