12-Year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)

Jennifer Ivanovich, Susan Mallory, Timothy Storer, David Ciske, Anne Hing

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes.

Original languageEnglish
Pages (from-to)313-316
Number of pages4
JournalAmerican journal of medical genetics
Volume98
Issue number4
DOIs
StatePublished - Feb 1 2001

Keywords

  • Chediak-Higashi syndrome
  • Elejalde syndrome
  • Griscelli syndrome

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