[Griscelli syndrome in a Mexican girl]. / Síndrome de Griscelli en una niña mexicana.
Rev Alerg Mex
; 49(1): 16-9, 2002.
Article
em Es
| MEDLINE
| ID: mdl-12070892
Griscelli syndrome is an infrequent disease first described in 1978. It is inherited in autosomal recessive form, and is distinguished by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement and uncontrolled phases of macrophage and lymphocyte activation. We report the case of a female child who started with ataxic gait when she was 23 months old. At physical examination a phenotype with brown skin and silvery gray hair, eyebrows and eyelashes was observed. Neurological evolution was with remissions and exacerbations, with cerebellar and, finally, bulbar compromise.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Albinismo
/
Síndromes de Imunodeficiência
Limite:
Female
/
Humans
/
Infant
País/Região como assunto:
Mexico
Idioma:
Es
Revista:
Rev Alerg Mex
Ano de publicação:
2002
Tipo de documento:
Article
País de publicação:
México