Hurvitz H, Gillis R, Klaus S, Klar A, Gross-Kieselstein F, Okon E
Department of Paediatrics, Bikur Cholim General Hospital, Jerusalem, Israel.
Eur J Pediatr. 1993 May;152(5):402-5. doi: 10.1007/BF01955897.
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.
我们报告了一个高度近亲结婚家庭的四名成员，他们有银灰色头发色素沉着，其中两人的皮肤组织学表现与格里塞利病相符。与之前报道的患者不同，他们没有反复感染。此外，存在一系列神经系统受累情况，从一名患者的轻度认知延迟合并惊厥性疾病，到另外三名患者的致命性退行性病程。一名患者出现了伴有明显淋巴样增生组织学证据的持续性发热疾病。
