Griscelli’s syndrome in a young adult – a case report with the review of literature
Keywords:
Griscelli’s syndrome, albinism, immunodeficiency.Abstract
Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery grey hair with large, clumped melanosomes on microscopy of hair shafts is diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. There are three types of this syndrome described. We present a young adult with classic clinical features and confirmatory findings of clumped melanosomes on microscopy of hair shaft.ÂReferences
Klein C, Phillipe N, Le Deist F et al. Partial albinism with immunodeficiency. J Pediatr 1994; 125: 886-95.
Schneider LC, Berman RS, She CR et al. Bone marrow transplantation for the syndrome of pigmentary dilution and lymphohistiocytosis. J Clin Immunol 1990; 10: 146-53.
Hurvitz H, Gillis R, Klaus R et al. Kindred with Griscelli disease: spectrum of neurological involvement. Eur J Pediatr 1993; 152: 402-5.
Mathew LG, Cherian T, Sudarshanam A et al. Hemophagocytic lymphohistiocytosis: a case series. Indian Pediatr 2000; 37: 526-31.
Menasche G, Pastural E, Feldmann J et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet 2000; 25: 173-6.
Pastural E, Barrat FJ, Dufoureq-Lagelouse R et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nature Genet 1997; 16: 289-92.
Fischer A, Virelizier JL, Arenzana SF et al. Treatment of four patients with erythrophagocytosis by a combination of epipodophyllotoxin, steroids, intracranial methotrexate and cranial irradiation. Pediatrics 1985; 76: 263-8.
