Paediatric Caecal Volvulus, a Rare Presentation of African Degenerative Leiomyopathy – A Case Report

BACKGROUND 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) or significant intestinal distension due to conditions such as chronic constipation, post-operative ileus, Hirschsprung Disease or Paediatric Intestinal Pseudo-Obstruction (PIPO). African Degenerative Leiomyopathy (ADL) is a subtype of PIPO characterised by a fibrotic “tiger striped” degeneration of the muscular layers of the colon. It is endemic to Sub-Saharan Africa and is associated with poor outcomes. CASE PRESENTATION: an 11-year-old female, previously healthy, presented with a two-day history of abdominal distension, bilious vomiting and constipation. Abdominal radiography and computed tomography (CT) scan were suggestive of colonic volvulus. Endoscopic reduction was unsuccessful, and exploratory laparotomy revealed a caecal volvulus. A limited right hemicolectomy and end ileostomy was performed. Histology revealed myopathic changes with a “tiger stripes” appearance. Postoperatively she experienced recurrent episodes of bowel pseudo-obstruction. A full-thickness rectal biopsy confirmed the presence of ganglion cell, excluding Hirschsprung Disease (HD) and further supporting the diagnosis of ADL. The patient unfortunately demised six months later due to abdominal compartment syndrome. CONCLUSIONS 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.