Griscelli syndrome: description of a case with Rab27A mutation

Pediatric Hematology and Oncology
Deniz AslanBuket Dalgiç

Abstract

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.

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Citations

Jul 31, 2007·Dermatologic Clinics·Medhat A El-MoftyMona R E Abdel-Halim
Apr 13, 2013·British Journal of Haematology·G Naheed UsmaniPeter E Newburger
Nov 9, 2010·Dermatologic Therapy·Melissa A Reyes, Daniel B Eisen
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Aug 15, 2014·Journal of Pediatric Hematology/oncology·Ashley HinsonCourtney Thornburg
Jul 11, 2019·Biomolecules·Jeong Ah LeeJae Sung Hwang

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