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      Griscelli Syndrome: A Case Report

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          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.

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          Most cited references 10

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          Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT.

          Griscelli syndrome is characterized by partial albinism with variable immunodeficiency. Two different gene loci are responsible for this rare, autosomal recessive disease: the myosin Va gene and the RAB27A gene. As recently reported, only patients with mutations of the RAB27A gene suffer from immunodeficiency and hemophagocytic lymphohistiocytosis. Thus, only patients who suffer from the Griscelli syndrome with mutations of the RAB27A gene should receive BMT/PBSCT, which is the only curative therapy. Due to the risk of early relapse or severe infections, BMT/PBSCT should be carried out as soon as possible; if patients do not have HLA-identical family members, valuable time may be lost by searching for an HLA-identical unrelated donor. We report the first peripheral blood stem cell transplant (PBSCT) with T cell depletion in a 6-month-old girl with Griscelli syndrome, and a deletion of the RAB27A gene. The donor was her phenotypically HLA-identical mother. Conditioning included busulfan, VP16 and cyclophosphamide. The patient was transfused with 15.4 x 10(6)CD34-positive cells/kg and 17.6 x 10(3) CD3-positive cells/kg recipient weight. Three months after the transplant, a curable lymphoproliferative syndrome occurred. 26 months after the transplant, the patient is doing well with stable mixed chimerism (52% donor cells).
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            Silvery Hair Syndrome in Two Cousins: Chediak-Higashi Syndrome vs Griscelli Syndrome, with Rare Associations

            Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as “silvery hair syndrome,” consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects. GS is also a rare autosomal recessive disorder characterized by reduced skin pigmentation, often regarded as partial albinism and silvery grey hair combined with immunodeficiency. To make correct diagnosis and to differentiate between CHS and GS, it requires light microscopic examination of skin and hair shafts, immunological and peripheral blood smear evaluation. They have been reported to be associated with some common clinical association as a part of the syndrome due to pigmentary delusion, neurological dysfunction, and severe life-threatening infections due to neutrophil phagocytosis dysfunction. There are reports of few rare associations and varied presentations and variable mean survival age. We report two cases with common presentation of silvery hair but varied systemic and clinical manifestations and survival in two cousin brothers from the same family.
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              Griscelli syndrome: Rab 27a mutation.

              An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.
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                Author and article information

                Journal
                Iran J Child Neurol
                Iran J Child Neurol
                IJCN
                Iranian Journal of Child Neurology
                Shahid Beheshti University of Medical Sciences (Tehran, Iran )
                1735-4668
                2008-0700
                Autumn 2014
                : 8
                : 4
                : 72-75
                Affiliations
                [1 ]Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran
                [2 ]Research Center for Cutaneous Leishmaniasis, Mashhad University of Medical Sciences, Mashhahd, Iran
                [3 ]Department of Dermatology, Mashhad University of Medical Sciences, Mashhahd, Iran
                [4 ]Department of Pathology, Mashhad University of Medical Sciences, Mashhahd, Iran
                Author notes
                Corresponding Author: Ashrafzadeh F. MD, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhahd, Iran, Tel: +985138012469, Fax: +985138425878, Email: Ashrafzadehf@mums.ac.ir
                Article
                ijcn-8-072
                4307372

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License, ( http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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