Rare complication of inflammatory bowel disease-like colitis from glycogen storage disease type 1b and its surgical management: A case report

BACKGROUND: Glycogen storage disease (GSD) is an autosomal recessive inborn metabolic disorder. Patients with GSD are prone to hypoglycaemia, hyperlactacidemia and bleeding. GSD type 1b (GSD-1b) patients specifically can develop neutropenia, recurrent bacterial infection and inflammatory bowel disease (IBD). Documentation of the long-term outcomes of surgical management of GSD-1b has been scarce, especially for Asian patients. We herein describe a case of GSD-1b complicated by IBD-like colitis and coloduodenal fistula. The patient was managed successfully with surgical intervention. CASE SUMMARY: A 20-year-old Chinese lady confirmed by genetic testing to have GSD-1b was initially managed with uncooked cornstarch and granulocyte-colony stimulating factor. With recurrent abdominal symptoms, her condition was treated as clinical “Crohn’s disease” with mesalazine, prednisolone and azathioprine conservatively. Colonoscopy showed a tight stricture at the hepatic flexure. Subsequent computerized tomographic colonography revealed a phlegmon at the ileocaecal region with a suspected coloduodenal fistula. Eventually an exploratory laparotomy was performed and severe colitis at the ascending colon with coloduodenal fistula was confirmed. Right hemicolectomy with primary anastomosis and repair of the duodenum were performed. Surgical management of complications from GSD-1b associated IBD-like colitis has rarely been described. First-line treatment would usually be conservative. Surgical intervention like hemicolectomy is mainly reserved for refractory cases. CONCLUSION: Surgical management of coloduodenal fistula in GSD-1b patients is a feasible and safe option when failed conservative management.