12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)
- 19 January 2001
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 98 (4) , 313-316
- https://doi.org/10.1002/1096-8628(20010201)98:4<313::aid-ajmg1098>3.0.co;2-p
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.Keywords
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