Abstract
Background
Glycogen storage disease type Ib (GSD Ib) due to biallelic mutations in SLC37A4 is often associated with inflammatory bowel disease. Peritoneal inclusion cysts (PICs) are variable sized, fluid-filled, mesothelial-lined cysts that usually occur in premenopausal woman. Risk factors for the development of PICS comprise prior abdominal surgeries and inflammatory diseases.
Results
We herein report on a female patient with GSD Ib and Crohn’s like disease who underwent recurrent abdominal surgery due to suspected intraabdominal abscesses. At the age of 36, abdominal pain and an increase in the abdominal girth was observed. MRI revealed a large PIC. Due to multiple previous complications conservative management was chosen, and the cyst remained stable in size during a 1-year follow-up.
Conclusions
PIC should be included in the differential diagnosis of abdominal cystic masses especially in premenopausal women with either IBD or previous abdominal surgery. Radiologist, gynecologist, and gastroenterologist should be aware of this rare condition to prevent inappropriate and aggressive treatments.
A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families
