Diagnostic and therapeutic caveats in Griscelli syndrome

Griscelli Syndrome

Griscelli syndrome.

We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This n...

Griscelli syndrome and electroencephalography pattern.

Dr. Paulo B.N. Liberalesso – Rua Benjamin Constant 90 / 73 80060-050 Curitiba PR Brasil. E-mail: [email protected] In 1978 in France, Claude Griscelli and Michel Prunieras reported the cases of two girls who presented with silver gray hair, several episodes of fever, hepatosplenomegaly and pancytopenia. The combination of pigment dilution and recurrent infectious episodes raised the dia...

RAB27A Mutation in Griscelli Syndrome

1Department of Pediatric Hematology/Oncology, Mofi d Children Hospital, Shahid Beheshti Medical University, Tehran, Iran 2Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran 3Research Center for Immunodefi ciencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Scie...

Griscelli Syndrome: A Case Report

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 f...