Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Abstract

Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient with GSDIa and very early-onset inflammatory bowel disease (VEO-IBD). Larger studies are needed to better understand this possible association, elucidate the mechanism of VEO-IBD in GSDIa, and inform management.

Keywords: Glycogen storage disease type 1a; Very early-onset inflammatory bowel.

Fig. 1

Upper endoscopy demonstrated esophagitis, diffuse mild inflammation of the stomach, and erythematous duodenal mucosa with white plaques (Panel A shows the duodenal bulb). Colonoscopy demonstrated diffuse moderate inflammation characterized by erythema, friability, and shallow ulcerations in the rectum, sigmoid colon, descending colon, transverse colon, and ascending colon (Panel B shows the descending colon). Panel C shows a longitudinal view of the liver on ultrasound, demonstrating hepatomegaly, mild coarsening of hepatic parenchyma, and diffuse increase in hepatic echogenicity but no evidence of focal hepatic masses or adenomas. Panel D demonstrates histopathology of duodenal mucosa with severe villous blunting, increased inflammatory cells in the lamina propria, and crypt hyperplasia. Panel E demonstrates histopathology of the cecum with cryptitis (intraepithelial neutrophils) and crypt abscess (collection of neutrophils within the crypt) consistent with active colitis. No chronic mucosal injury is seen. Panel F shows histopathology of the sigmoid/rectum with features suggestive of chronic mucosal injury (crypt architecture disarray and basal plasmacytosis) and active colitis. These findings are consistent with a chronic active colitis and concerning for IBD.