Glycogen storage disease Ib and crohn colitis in a young woman

The occurrence of inflammatory bowel disease in patients with glycogen storage disease Ib is rare (GSD-Ib). We present the case of a young woman with the diagnosis of GSD-Ib Crohn-like colitis developed at age 22. Clinical evaluation revealed severe malnutrition, secondary amenorrhea, leukopenia, neutropenia, dysfunctions of phagocytosis, and subtotal stenosis of the ascending colon. Right hemicolectomy was performed and pathohistologic analysis of the resected bowel showed chronic bowel inflammation consistent with Crohn disease. Clinical status of the patient markedly improved after surgery.