Griscelli Syndrome Types 1 and 2

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...

Cerebellar involvement of Griscelli syndrome type 2.

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...

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...

Griscelli syndrome type 2; a pediatric case with immunodeficiency.

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. ...