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.
|Number of pages||4|
|Journal||American journal of medical genetics|
|State||Published - Feb 1 2001|
- Chediak-Higashi syndrome
- Elejalde syndrome
- Griscelli syndrome