Shamsian MD, B.Sh. and Arzanian MD, M.T. and Alavi MD, S. and Zareifar MD, S. (2009) GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE. Iranian Journal of Child Neurology, 1 (3). pp. 47-51.
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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.
| Item Type: | Article |
|---|---|
| Subjects: | Pustaka Library > Medical Science |
| Depositing User: | Unnamed user with email support@pustakalibrary.com |
| Date Deposited: | 27 Feb 2023 10:32 |
| Last Modified: | 19 Feb 2024 04:18 |
| URI: | http://archive.bionaturalists.in/id/eprint/154 |
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