Diabetes Mellitus, Congenital Autoimmune

Cilio et al. (2000) reported a neonate who developed hyperglycemia, glycosuria, and moderate acidosis 12 hours after birth. Islet autoimmunity was indicated by the presence of autoantibodies to insulin and glutamic acid decarboxylase and was confirmed by the finding of marked lymphocytic infiltration in the pancreas (with insulitis), heart, and lungs. At 6 days of age, persistent diffuse eczematous lesions, diarrhea, and eosinophilia developed, and the infant died of necrotizing enterocolitis on day 26. The patient's mother was healthy, with no autoantibodies of the type that were positive in the son. Because severe beta-cell impairment was present at birth, Cilio et al. (2000) concluded that autoreactive T cells had been primed and reacted against self-antigens during fetal life. Furthermore, they suggested that this rare autoimmune syndrome may have a genetic basis, because the mother of the patient had a great-uncle, a second cousin, and 2 brothers who had died of undetermined causes within 6 months after birth, as well as an uncle and a daughter who had died before birth.