Título: GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE
Autores: Shamsian MD, B.Sh.; Assistant professor, Department of pediatric hematology-oncology,Mofid children's hospital,Shaid BEheshti Medical University
Arzanian MD, M.T.; Assistant professor ,Cheif of hematology-oncology ward, Department of pediatric hematology-oncology, Shaid Beheshti Medical University
Alavi MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences
Zareifar MD, S.; Assistant professor, Department of pediatric hematology-oncology, Namazi Hospital, Shiraz University of medical sciences
Fecha: 2009-01-10
Publicador: Iranian Journal of Child Neurology
Fuente:
Tipo: info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Case reports
Tema: No aplica
Descripción: Abstract:Griscelli syndrome (GS) is a rare disease first described in 1978. It is inherited in autosomal recessive pattern. This disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia, hemophagocytosis and progressive neurologic deterioration. Griscelli syndrome can be suggested according to her symptoms. The chemotherapy was not effective for her and she died due to multi organ failure.Key words:Griscelli syndrome, Hemophagocytosis, Albinism.
Idioma: Inglés

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