title: Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib.
abstract: Glycogen storage disease (GSD) type Ib is a congenital disorder of glycogen metabolism that is associated with neutropenia, neutrophil dysfunction, and an inflammatory bowel disease that mimics a Crohn phenotype. Gastrointestinal inflammation in GSD Ib has been successfully treated with 5-aminosalicylic acid and granulocyte colony-stimulating factor (G-CSF). However, therapeutic options for patients not responding to traditional therapies have been limited owing to untoward effects of glucocorticoids and immunomodulators in this metabolic disorder. Adalimumab is a monoclonal antibody targeting tumour necrosis factor-α that has shown promise for the treatment of patients with Crohn disease. Due to the limited options for treating GSD-associated inflammatory bowel disease, use of adalimumab was attempted in a case unresponsive to aminosalicylate, G-CSF, and antibiotic therapy. Significant clinical and histological improvement was observed in our patient, and the medication was well tolerated.
authors.affiliation: Division of Pediatric Gastroenterology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
authors.forename: M K
authors.initials: MK
authors.lastname: Davis
authors.forename: P A
authors.initials: PA
authors.lastname: Rufo
authors.forename: S F
authors.initials: SF
authors.lastname: Polyak
authors.forename: D A
authors.initials: DA
authors.lastname: Weinstein