Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the lit...

how to cite this article: mansouri nejad se, yazdan panah mj, tayyebi meibodi n, ashrafzadeh f, akhondian j, beiraghi toosi m, eslamieh h. griscelli syndrome: a case report. iran j child neurol. 2014 autumn;8(4): 72-75. 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 pulmon...

abstract: griscelli syndrome (gs) is a rare disease first described in 1978. it is inherited in autosomal recessive pattern. this disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation. we report a 5 months old iranian girl presenting with silver-gray hair,eyelashes and ...

Griscelli syndrome is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency, and an acute phase of uncontrolled T-lymphocyte, and macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only in approximately 60 cases have been reported, most from the Turkish, and Mediterranean population. In microscopic examination, si...

a 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. peripheral blood smear examination did not show giant granules in granulocytes....

Silvery hair is a rare clinical feature, common in a group of rare syndromes, which usually present in the paediatric age group termed together as "silvery hair syndromes". We report a consanguineous family in which three out of four siblings had silvery hair and neurological deficits and were diagnosed to have Griscelli syndrome. The diagnosis of Griscelli syndrome in our cases was based on cl...

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...

Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunol...