title: Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.
abstract: We present an eleven-year-old female patient who was referred to us with silvery hair, hepatosplenomegaly, neutropenia-thrombocytopenia, hypogammaglobulinemia and degenerative white matter disease, with a family history of a female sibling dying at the age of five and two living male cousins, ages 10 and 11. She had been followed up for her cytopenia the last three years and had totally recovered from a hemiplegic episode before admission. The family was of Arabic origin, and a second-degree consanguinity was reported between the parents. Microscopic analysis of her hair shafts revealed irregularly distributed small and large clumps of melanin, and skin biopsy findings were consistent with partial albinism. Bone marrow aspiration and biopsy did not detect any evidence of hemophagocytosis. Genetic analysis identified a homozygous two-base-pair deletion (51 del CT leading to S18X) in the Rab27A gene of the patient. She suffered from febrile neutropenic episodes. Her persistent cytopenia could not be corrected with immunoglobulin, thrombocyte infusions, or a short course of growth factor treatment. Splenectomy was planned due to her progressive splenic enlargement. She was also considered for bone marrow transplantation. She unfortunately died from an intracranial hemorrhage. Her clinical presentation was remarkable, mostly resembling partial albinism immunodeficiency/Elejalde syndrome due to her older age and absence of hemophagocytosis, but with molecular findings confirming Griscelli syndrome.
authors.affiliation: Ege University Medical School, Division of Pediatric Immunology, Izmir, Turkey. guzide@ccc.uab.edu
authors.forename: Güzide
authors.initials: G
authors.lastname: Aksu
authors.forename: Necil
authors.initials: N
authors.lastname: Kütükçüler
authors.forename: Ferah
authors.initials: F
authors.lastname: Genel
authors.forename: Canan
authors.initials: C
authors.lastname: Vergin
authors.forename: Benjamin
authors.initials: B
authors.lastname: Omowaire
mesh_terms: D002648:Child; D003241:Consanguinity; D005260:Female; D006529:Hepatomegaly / Q000209:etiology / Q000235:genetics*; D006801:Humans; D017496:Hypopigmentation; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D013163:Splenomegaly / Q000209:etiology / Q000235:genetics*; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000075745:rab27 GTP-Binding Proteins
chemical_list: D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins