Elejalde syndrome

Elejalde syndrome

(el-e-hal′dā)
[Benigno Rafael Elejalde, U.S. geneticist]
A rare autosomal recessive syndrome in which affected children are born with silver-colored hair, diminished skin pigmentation, and severe neurological disease. The latter often proves fatal.

Elejalde,

Rafael, U.S. geneticist.
Elejalde syndrome - a rare autosomal recessive disease characterized by silvery hair, severe central nervous system dysfunction, bronze skin observed after sun exposure, ophthalmologic abnormalities, and neurologic involvement, including seizures and mental retardation.
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References in periodicals archive ?
Silvery hair and central nervous system dysfunction characterize Elejalde Syndrome (ES) a rare autosomal recessive syndrome.
Elejalde syndrome does not involve impairment of the immune system.
Comment on Elejalde syndrome and relationship with Griscelli syndrome.
Elejalde syndrome was not considered as neurological involvement was absent.
2) GS is a rare disorder of melanosome transport and uncontrolled Tlymphocyte and macrophage activation sydrome (3) and is divided into several types (4, 5) Type 1 Elejalde syndrome, Type (2) Partial albinism with immunodeficiency, Type 3 Partial albinism.
Unlike GS, Elejalde syndrome does not have immunodeficiency and has spotty hair pigmentation and Chediak Higashi syndrome has abnormal giant cytoplasmic granules in the leukocytes with predominant involvement of the skin.
Sanal O, Yel L, Kucukali T, et al: An allelic variant of Griscelli disease: presentation with severe hypotonia mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).
Bahadoran P, Ortonne JP, Ballotti R, de Saint Basile G: Comment on Elejalde syndrome and relationship with Griscelli syndrome.
Natural light reveals hair the color of lead and with a "peculiar" shine in children with Chediak-Higashi syndrome, Griscelli syndrome, and Elejalde syndrome, and in the rare child whose unusual pigmentation is not associated with systemic defects, Dr.
Duran-McKinster is head of pediatric dermatology, found the diseases were fatal in 8 of 10 children with Chediak-Higashi syndrome, all 7 children with Griscelli syndrome, and 8 of 10 with traditional Elejalde syndrome.
Hence, the gross clinical analysis excluded the possibility of Hermansky-Pudlak, Chediak-Higashi, Waardenburg, Cross-McKusick-Breen, Griscelli syndromes and Elejalde syndromes.