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: description of a case with Rab27A mutation.

Aslan D, Sari S, Derinöz O, Dalgiç B

Sections of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey. drdagutf@superonline.com

A 7-month-old Turkish boy presented with partial albinism and typical clinical features of an accelerated phase, suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair and a peripheral blood smear. Genetic analysis identified a mutation in the Rab27A gene. He was initiated immunosuppressive treatment but accelerated phase could not be ameliorated. He unfortunately died from multiorgan failure. The finding of partial albinism in children should alert clinicians to consider Griscelli syndrome since simple methods can confirm the diagnosis and early diagnosis is life-saving.

Published 6 March 2006 in Pediatr Hematol Oncol, 23(3): 255-61.
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