Résumé
Griscelli syndrome is a rare autosomal recessive disorder due to mutations in MYO5A, RAB27A, or MLPH. It was initially described by Griscelli and Prunieras, France in 1978. This defect results in pigmentary dilution of the skin and the hair [silver hair] as an isolated feature in GS type3, or with combined T-cell and B-cell immunodeficiency [GS type2] or neurologic signs [GS type 1]. Hemophagocytic lymphohistiocytosis may occur as a complication in GS type2 and is considered the major cause of mortality. Here, we describe a 2.5 years old child presented with repeated lower respiratory tract infections, convulsions and deteriorating neurologic manifestations. He had silver gray hair and eye brows, neurologic manifestations. Differentiation from Chediak-Higashi syndrome and Elejalde syndrome was warranted due to overlapping features. Laboratory studies showed immune deficiency disorder and in one stage peripheral blood pancytopenia, with absence of characteristic granules characteristic of Chediak-Higashi which was excluded. Elejalde syndrome patients do not have immunologic abnormalities. Both CT and MRI are used to assess OS. Usually, findings are normal at birth. When the disease manifests, imaging findings are abnormal. Skin biobsy showed characteristic hyperpigmented basal melanocytes and sparse pigmentation of adjacent keratinocytes. Different disorders and even subtypes of GS influence prognosis. Mortality is often related to uncontrolled hemophagocytic syndrome rather than infections due to immune deficiency. Bone Marrow Transplantation is the only curative option though it does not improve neurological damage