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Griscelli Syndrome: A Case Report.

Authors :
MANSOURI NEJAD, Seyed Ebrahim
TAYYEBI MEIBODI, Naser
ASHRAFZADEH, Farah
BEIRAGHI TOOSI, Mehran
ESLAMIEH, Hossein
AKHONDIAN, Javad
YAZDAN PANAH, Mohammad Javad
Source :
Iranian Journal of Child Neurology; Autumn2014, Vol. 8 Issue 4, p72-75, 4p
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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
17354668
Volume :
8
Issue :
4
Database :
Supplemental Index
Journal :
Iranian Journal of Child Neurology
Publication Type :
Academic Journal
Accession number :
100483057