A Griscelli Syndrome, with Retropharyngeal Abscess, as First Clinical

Document Type: Case Report

Authors

1 Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran

2 Department of Pathology, North Khorasan University of Medical Sciences, Bojnurd, Iran

10.22034/igj.2020.235072.1041

Abstract

Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, which usually causes death by early childhood. This syndrome is a primary immune defects that presents with a dilution of pigmentations of the skin and hair, recurrent pulmonary and skin infections, neurologic disorders, hypogammaglobulinemia, and variable cellular immunodeficiency. In different phenotypes of the syndrome, three mutations have been mentioned. In most of them, GS leads to death in the first decade of life. Herein, we report a one-year-old male child with an upper respiratory infection and retropharyngeal abscess as first clinical manifestation.

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