[Griscelli syndrome in a Mexican girl].
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.
Ayala de la Cruz
María del Carmen
Mdel C
Departamento de inmunología pediátrica, Hospital Regional de Especialidades número 25, Instituto Mexicano del Seguro Social, Monterrey, NL, México.
Ramírez Campos
Jorge
J
Govea Sifuentes
Jesús
J
González Cabello
Diana
D
Calderón Garcidueñas
Ana Laura
AL
Moreno
Laura
L
Vargas Almanza
Griselda Nelly
GN
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
Síndrome de Griscelli en una niña mexicana.