Abstract: (9585 Views)
Roger’s syndrome is a rare form of diabetes in children that is characterized with early onset of diabetes mellitus, megaloblastic anemia, and sensory neural hearing loss. In this report three cases of this syndrome from consanguineous Iranian families are introduced (two siblings and a cousin). They referred to pediatric ward of Imam Reza Hospital with hyperglycemia, anemia and sensory neural hearing loss. Molecular genetics study revealed novel mutation in SLC19A2 gene. Thiamin was used in order to treat the patients. Afterwards, anemia was resolved in all patients and normoglycemia achieved in two of the patients, however, hearing loss remained in all three.