title: Griscelli syndrome: description of a case with Rab27A mutation.
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.
authors.affiliation: Sections of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey. drdagutf@superonline.com
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslan
authors.forename: Sinan
authors.initials: S
authors.lastname: Sari
authors.forename: Okşan
authors.initials: O
authors.lastname: Derinöz
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgiç
mesh_terms: D003131:Combined Modality Therapy; D003241:Consanguinity; D017809:Fatal Outcome; D005808:Genes, Recessive; D006197:Hair / Q000737:chemistry / Q000648:ultrastructure; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy; D008297:Male; D008543:Melanins / Q000032:analysis; D009102:Multiple Organ Failure / Q000209:etiology; D016116:Piebaldism / Q000235:genetics*; D013163:Splenomegaly / Q000209:etiology; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D000075745:rab27 GTP-Binding Proteins
chemical_list: D007166:Immunosuppressive Agents; D008543:Melanins; D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins