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

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.

[1]  C. Durán-McKinster,et al.  Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. , 1999, Archives of dermatology.

[2]  A. Paller,et al.  Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. , 1998, Journal of the American Academy of Dermatology.

[3]  A. Fischer,et al.  Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene , 1997, Nature Genetics.

[4]  R. Spritz,et al.  Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). , 1996, American journal of human genetics.

[5]  M. Lovett,et al.  Identification of the homologous beige and Chediak–Higashi syndrome genes , 1996, Nature.

[6]  P. Bork,et al.  Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome , 1996, Nature Genetics.

[7]  C. Klein,et al.  Partial albinism with immunodeficiency (Griscelli syndrome). , 1994, The Journal of pediatrics.

[8]  N. Copeland,et al.  Novel myosin heavy chain encoded by murine dilute coat colour locus , 1991, Nature.

[9]  B. Burke,et al.  The accelerated phase of Chediak‐Higashi syndrome. An expression of the virus‐associated hemophagocytic syndrome? , 1985, Cancer.

[10]  A. Valencia,et al.  Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease. , 1979, American journal of medical genetics.

[11]  C. Griscelli,et al.  A syndrome associating partial albinism and immunodeficiency. , 1978, The American journal of medicine.

[12]  S. Wolff,et al.  The Chediak-Higashi syndrome: studies in four patients and a review of the literature. , 1972, Medicine.

[13]  W. L. Donohue,et al.  Chédiak-Higashi syndrome; a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. , 1957, Pediatrics.