A KINDRED WITH GRISCELLI DISEASE - SPECTRUM OF NEUROLOGICAL INVOLVEMENT
A KINDRED WITH GRISCELLI DISEASE - SPECTRUM OF NEUROLOGICAL INVOLVEMENT
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DOI：
10.1007/bf01955897
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发表时间：
1993-05-01
影响因子：
3.6
通讯作者：
OKON, E
中科院分区：
文献类型：
--
作者：
HURVITZ, H;GILLIS, R;OKON, E
我们报告了一个高度近亲家庭的四名成员，银灰色的头发色素沉着，其中两人的皮肤组织学与Griscelli病兼容。与以前报道的患者不同，他们没有复发感染。此外，还有一系列神经系统受累，从1例患者的轻度认知延迟伴惊厥性疾病到另外3例患者的致死性退行性病变。1例患者出现长期发热性疾病，组织学证据显示有明显淋巴样增生。
We report four members of a highly consanguineous family with silver-grey pigmentation of hair, two of whom had skin histology compatible with Griscelli disease. Unlike previously reported patients, they did not suffer from recurrent infections. In addition, there was a spectrum of neurological involvement varying from mild cognitive delay with a convulsive disorder in one patient, to a fatal degenerative course in three others. One patient developed a prolonged febrile illness with histological evidence of florid lymphoid hyperplasia.