Lambert-Eaton Myasthenic syndrome in a child with an autoimmune phenotype

William H. Hoffman, Sandra W Helman, Elizabeth Sekul, James Edwin Carroll, Roger A. Vega

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

We report on a child with a family history of autoimmune defects, who presented at the age of 3 1/2 years with alopecia and Graves disease. He subsequently developed vitiligo and psoriasis. At 9 1/2 years, he developed an autoimmune form of Lambert-Eaton Myasthenic syndrome (LEMS) with a significant elevation of glutamic acid decarboxylase (GAD) autoantibodies. Shortly thereafter he developed chronic urticaria. HLA associations were present for Graves disease, vitiligo, psoriasis, and IgA deficiency. There was also evidence of autoimmunity involving the pancreatic islet cells and gastric parietal cells.

Original languageEnglish (US)
Pages (from-to)77-80
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume119 A
Issue number1
Publication statusPublished - May 15 2003

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Keywords

  • Autoimmune polyglandular syndrome
  • GAD autoantibody
  • Graves disease
  • HLA
  • Lambert-Eaton Myasthenic syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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