Diamond-Blackfan like anemia and idiopathic very early onset severe
colitis cured by allogeneic hematopoetic stem cell transplantation.
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplasia.
An association with very early onset inflammatory bowel disease
(VEO-IBD) has only been reported a few times. We report a Caucasian boy
with a transfusion-dependent DBA phenotype from birth and severe
ulcerative pancolitis from 10 months of age. He underwent successful
allogeneic hematopoietic stem cell transplantation (HSCT) at 2 years of
age. On follow-up 8 years old, he had normal bone marrow function and no
bowel symptoms. HSCT was curative for both DBA and VEO-IBD. The
underlying course of DBA and pancolitis remains elusive.