Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans.
Neonatal insulin-dependent diabetes mellitus (DM) is very rare and descriptions of the pancreatic pathology in affected infants vary considerably. Death after 10 months of a male child who suffered the onset of insulin-dependent DM as a neonate, together with severe diarrhea and features of the hyperimmunoglobulin E syndrome, was found to be associated with absence of islets of Langerhans. There was no evidence of any pancreatic exocrine abnormality or other endocrinopathy. Two male relatives with insulin-dependent DM have also died as infants, and after review of the literature it is suggested that this disease process may be part of the spectrum of an X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. Evidence is presented to support the suggestion that this syndrome is an autoimmune disorder.
Roberts
J
J
Department of Pathology, Royal Brisbane Hospital, Herston, Australia.
Searle
J
J
D003922:Diabetes Mellitus, Type 1 / Q000151:congenital / Q000473:pathology*; D003967:Diarrhea / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D006942:Hypergammaglobulinemia / Q000151:congenital / Q000473:pathology*; D007073:Immunoglobulin E; D007231:Infant, Newborn; D007515:Islets of Langerhans / Q000002:abnormalities* / Q000473:pathology*; D007589:Job Syndrome / Q000151:congenital / Q000473:pathology*; D008297:Male
D007073:Immunoglobulin E