Griscelli syndrome: Description of a case with Rab27A mutation


Aslan D., Sari S., Derinoz O., Dalgic B.

PEDIATRIC HEMATOLOGY AND ONCOLOGY, vol.23, no.3, pp.255-261, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2006
  • Doi Number: 10.1080/08880010500506909
  • Journal Name: PEDIATRIC HEMATOLOGY AND ONCOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.255-261
  • Keywords: griscelli syndrome, partial albinism, Rab27A, PARTIAL ALBINISM, IMMUNODEFICIENCY, INVOLVEMENT, DISEASE
  • Gazi University Affiliated: Yes

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 corfirm the diagnosis and early diagnosis is life-saving.