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Griscelli syndrome: a case report.

Authors :
Mansouri Nejad SE
Yazdan Panah MJ
Tayyebi Meibodi N
Ashraf Zadeh F
Akhondian J
Beiraghi Toosi M
Eslamieh H
Source :
Iranian journal of child neurology [Iran J Child Neurol] 2014 Fall; Vol. 8 (4), pp. 72-5.
Publication Year :
2014

Abstract

Objective: Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

Details

Language :
English
ISSN :
1735-4668
Volume :
8
Issue :
4
Database :
MEDLINE
Journal :
Iranian journal of child neurology
Publication Type :
Academic Journal
Accession number :
25657774