Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl

被引：0

作者：

F. A. M. Baumeister

D. Stachel

F. Schuster

I. Schmid

M. Schaller

H. Wolff

M. Weiss

B. H. Belohradsky

机构：

[1] Kinderklinik und Kinderpoliklinik,

[2] Dr. v. Haunerschen Kinderspital der Universität München,undefined

[3] Lindwurmstraße 4,undefined

[4] D-80337 München e-mail: u7r11cf@mail.lrz-muenchen.de Tel.: +49-89-5160-2812,undefined

[5] Fax: +49-89-5160-4725,undefined

[6] Dermatologische Klinik der Ludwig-Maximilians-Universität München,undefined

来源：

European Journal of Pediatrics | 2000年 / 159卷

关键词：

Key words Partial albinism; Immunodeficiency; Haemophagocytosis; Peripheral blood stem cell transplantation; Griscelli syndrome;

D O I：

暂无

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学科分类号：

摘要：

A 2-month-old girl presented with fever, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and silvery-greyish hair, suggesting the diagnosis of Griscelli syndrome (partial albinism with immunodeficiency). This diagnosis was confirmed by the characteristic agglomeration of melanin in the hair shaft and accumulation of melanosomes in melanocytes of the skin. The patient was homozygous for polymorphic markers around the myosin-Va gene on chromosome 15q21, which co-localize to the Griscelli disease locus. Natural-killer cells were in the lower range. The stimulation of lymphocytes with antigen and mitogen was normal. The patient's accelerated phase, characterized by haemophagocytosis was treated with prednisolone, rabbit anti-thymocyte globulins, and intrathecal methotrexate. Remission was maintained with cyclosporin A until HLA-compatible peripheral blood stem cell transplantation from her mother.

引用

页码：74 / 78

页数：4