Background Inflammatory bowel disease (IBD)-like conditions in glycogen
storage disease (GSD) type Ib have been predominantly described in children.
Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and
hepatosplenomegaly. Based on few published cases, there is evidence that
granulocyte-colony stimulating factor (G-CSF) in patients with
glycogenosis–related pancytopenia might ameliorate the IBD-like disease
through leukocyte increase. Case presentation Here we firstly describe a case
of an adult 33-year-old Caucasian male patient with GSD type Ib accompanied
with IBD-like disease with persistent pancytopenia despite moderate-dose G-CSF
treatment. Recent vomiting and abdominal discomfort were due to a high-grade
stenosis in the transverse colon. A dose increase of the G-CSF successfully
normalized his leukocyte count. However, the stenosis worsened and surgical
therapy was needed. Conclusion We suggest that symptomatic patients with GSD
type Ib should undergo endoscopic examination in order to detect IBD-like
disease and to initiate early treatment