Griscelli syndrome: Description of a case with Rab27A mutation

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

PEDIATRIC HEMATOLOGY AND ONCOLOGY, cilt.23, sa.3, ss.255-261, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 3
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1080/08880010500506909
  • Dergi Adı: PEDIATRIC HEMATOLOGY AND ONCOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.255-261
  • Anahtar Kelimeler: griscelli syndrome, partial albinism, Rab27A, PARTIAL ALBINISM, IMMUNODEFICIENCY, INVOLVEMENT, DISEASE
  • Gazi Üniversitesi Adresli: Evet

Özet

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.