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.
Mentioned in ?
References in periodicals archive ?
This typical and exclusive phenomenon must be distinguished from the other two autosomal recessive transmission syndromes, the Griscelli syndrome and Elejalde syndrome. Both are characterized by skin hypopigmentation, silvery gray hair, central nervous system dysfunction in infancy and childhood, and very large and unevenly distributed granules of melanin in the hair shaft and skin.
Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome.
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.
(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.
The differential diagnosis for this case includes Chediak Higashi syndrome and Elejalde syndrome. 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.
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. Four children who did not fit diagnostic criteria for any systemic syndrome survived.
* Elejalde syndrome. This is also an autosomal recessive disease with severe neurologic abnormalities, including hypotomia, mental retardation, and progressive psychomotor impairment until death.
Hence, the gross clinical analysis excluded the possibility of Hermansky-Pudlak, Chediak-Higashi, Waardenburg, Cross-McKusick-Breen, Griscelli syndromes and Elejalde syndromes. The additional clinical spectrum of OCA patients from all three families are presented in Table.