Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

Griscelli syndrome: a case report.

Mehdizadeh M, Zamani G

Department of Pediatric Hematology and Oncology, Shaheed Beheshti Medical University, Tehran, Iran. mahshid mehdizadeh@yahoo.com

A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, fever, and pancytopenia), suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair that showed characteristic large aggregates of pigment granules irregularly distributed along the hair shaft. Immunosuppressive therapy controlled his macrophage activation syndrome successfully. Since early diagnosis is life saving and simple methods confirm the diagnosis, finding of partial albinism in children should alert clinicians to consider Griscelli syndrome.

Published 5 September 2007 in Pediatr Hematol Oncol, 24(7): 525-9.
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