Griscelli syndrome:: Description of a case with Rab27A mutation

被引:18
作者
Aslan, D
Sari, S
Derinöz, O
Dalgiç, B
机构
[1] Gazi Univ, Fac Med, Dept Pediat, Sect Hematol, Ankara, Turkey
[2] Gazi Univ, Fac Med, Dept Pediat, Gastroenterol Sect, Ankara, Turkey
关键词
griscelli syndrome; partial albinism; Rab27A;
D O I
10.1080/08880010500506909
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
引用
收藏
页码:255 / 261
页数:7
相关论文
共 20 条
  • [1] Griscelli syndrome without hemophagocytosis in an eleven-year-old girl:: Expanding the phenotypic spectrum of Rab27A mutations in humans
    Aksu, G
    Kütükçüler, N
    Genel, F
    Vergin, C
    Omowaire, B
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 116A (04) : 329 - 333
  • [2] Comment on Elejalde syndrome and relationship with Griscelli syndrome
    Bahadoran, P
    Ortonne, JP
    Ballotti, R
    de Saint-Basile, G
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 116A (04): : 408 - 409
  • [3] Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome
    Barral, DC
    Ramalho, JS
    Anders, R
    Hume, AN
    Knapton, HJ
    Tolmachova, T
    Collinson, LM
    Goulding, D
    Authi, KS
    Seabra, MC
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 2002, 110 (02) : 247 - 257
  • [4] Myelodysplastic syndrome associated with Griscelli syndrome
    Çetin, M
    Hiçsönmez, G
    Gögüs, S
    [J]. LEUKEMIA RESEARCH, 1998, 22 (09) : 859 - 862
  • [5] MUTATIONS AFFECTING PIGMENTATION IN MAN .1. NEUROECTODERMAL MELANOLYSOSOMAL DISEASE
    ELEJALDE, BR
    HOLGUIN, J
    VALENCIA, A
    GILBERT, EF
    MOLINA, J
    MARIN, G
    ARANGO, LA
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1979, 3 (01): : 65 - 80
  • [6] GOGUS S, 1995, PEDIATR PATHOL LAB M, V15, P309
  • [7] SYNDROME ASSOCIATING PARTIAL ALBINISM AND IMMUNODEFICIENCY
    GRISCELLI, C
    DURANDY, A
    GUYGRAND, D
    DAGUILLARD, F
    HERZOG, C
    PRUNIERAS, M
    [J]. AMERICAN JOURNAL OF MEDICINE, 1978, 65 (04) : 691 - 702
  • [8] HIGH-DOSE METHYLPREDNISOLONE AND VP-16 IN TREATMENT OF GRISCELLI SYNDROME WITH CENTRAL-NERVOUS-SYSTEM INVOLVEMENT
    GURGEY, A
    SAYLI, T
    GUNAY, M
    ERSOY, F
    KUCUKALI, T
    KALE, G
    CAGLAR, M
    [J]. AMERICAN JOURNAL OF HEMATOLOGY, 1994, 47 (04) : 331 - 332
  • [9] GRISCELLI DISEASE WITH CEREBRAL INVOLVEMENT
    HARALDSSON, A
    WEEMAES, CMR
    BAKKEREN, JAJM
    HAPPLE, R
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1991, 150 (06) : 419 - 422
  • [10] PARTIAL ALBINISM WITH IMMUNODEFICIENCY (GRISCELLI SYNDROME)
    KLEIN, C
    PHILIPPE, N
    LEDEIST, F
    FRAITAG, S
    PROST, C
    DURANDY, A
    FISCHER, A
    GRISCELLI, C
    [J]. JOURNAL OF PEDIATRICS, 1994, 125 (06) : 886 - 895