title: [Griscelli syndrome in a Mexican girl].
abstract: 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.
authors.affiliation: Departamento de inmunología pediátrica, Hospital Regional de Especialidades número 25, Instituto Mexicano del Seguro Social, Monterrey, NL, México.
authors.forename: María del Carmen
authors.initials: Mdel C
authors.lastname: Ayala de la Cruz
authors.forename: Jorge
authors.initials: J
authors.lastname: Ramírez Campos
authors.forename: Jesús
authors.initials: J
authors.lastname: Govea Sifuentes
authors.forename: Diana
authors.initials: D
authors.lastname: González Cabello
authors.forename: Ana Laura
authors.initials: AL
authors.lastname: Calderón Garcidueñas
authors.forename: Laura
authors.initials: L
authors.lastname: Moreno
authors.forename: Griselda Nelly
authors.initials: GN
authors.lastname: Vargas Almanza
mesh_terms: D000417:Albinism / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005808:Genes, Recessive; D006200:Hair Color; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007694:Killer Cells, Natural / Q000276:immunology; D018655:Lymphocyte Count; D009410:Nerve Degeneration / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D016176:T-Lymphocyte Subsets / Q000276:immunology
vernacular_title: Síndrome de Griscelli en una niña mexicana.