Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans

Pediatr Pathol Lab Med. 1995 May-Jun;15(3):477-83. doi: 10.3109/15513819509026984.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Diabetes Mellitus, Type 1 / congenital
  • Diabetes Mellitus, Type 1 / pathology*
  • Diarrhea / pathology*
  • Fatal Outcome
  • Humans
  • Hypergammaglobulinemia / congenital
  • Hypergammaglobulinemia / pathology*
  • Immunoglobulin E*
  • Infant, Newborn
  • Islets of Langerhans / abnormalities*
  • Islets of Langerhans / pathology*
  • Job Syndrome / congenital
  • Job Syndrome / pathology*
  • Male

Substances

  • Immunoglobulin E