Glycogen storage disease type Ib (
GSD Ib) is a rare hereditary
glycogen disorder that results in inadequate maintenance of
glucose homeostasis, accumulation of
glycogen in different organs, loss and dysfunction of neutrophils. Crohn's-like disease is observed in up to 24-77% of GDS Ib cases. Recently,
empagliflozin has been recommended as a treatment for neutrophil dysfunction in GDS Ib patients with or without Crohn's-like disease. There are no guidelines for the treatment of
inflammatory bowel disease (IBD) manifestation in
GSD Ib patients, although some cases have been treated with
granulocyte colony-stimulating factor and others with IBD conventional
therapy, resulting in partial IBD remission. Herein, we describe a child with GDS Ib and Crohn's-like disease who was treated with
empagliflozin and achieved complete remission after 2 years of treatment. This case is the first one with such a long follow-up evaluation including endoscopic and magnetic resonance enterography assessment. Our clinical evidence of remission of IBD manifestation in our
GSD Ib patient and the role of neutrophils in GDS Ib described in the literature suggest a strong association with IBD pathophysiology and neutrophil function. The use of
empagliflozin resulted in significant improvements in gastrointestinal symptoms, reduced
drug usage, and enhanced quality of life in the patient, with a favorable safety profile, offering a promising new therapeutic option for this population.