Glycogen Storage Disease type 1b (GSD 1b) is a metabolic disease affecting glycogen storage and metabolism, leading to hypoglycemia and metabolic derangements. In addition, neutrophil dysfunction and decreased counts are typical, associated with severe recurrent infections. Lastly, IBD-like disease has been found in up to 77% of GSD1b patients.
Our patient, described in this case report, presented with IBD-like disease at a relatively young age. Uncharacteristically, his symptoms worsened over time despite good control of the metabolic phenotype as well as improvement in his neutrophils counts and immunologic status. Different acceptable IBD treatments have failed and he still has active disease complicated by progressive colonic structuring.
We will describe the characteristics of IBD like disease in GSD1b, acceptable first and second line treatments, and potential additional treatments.
