Fujita Y, Fujii T, Nishio A, Tuboi K, Tsuji K, Nakamura M
Department of Internal Medicine, Shakai Hoken Kobe Central Hospital, Kobe, Japan.
Am J Hematol. 1990 Nov;35(3):219-21. doi: 10.1002/ajh.2830350317.
We report a family with May-Hegglin anomaly associated with familial spastic paraplegia. The propositus was a 39 year old male. His peripheral blood showed a Döhle-like inclusion bodies in WBC, giant platelets, and thrombocytopenia. He had been suffering from progressive gait disturbance of spastic paraplegia since 20 years old. He was in a state of chronic renal failure and showed sensory hearing impairment. His two children showed similar hematological abnormalities and spastic gait. As far as we know, this is the first case of May-Hegglin anomaly associated with familial spastic paraplegia in the literature.
我们报告了一个患有与家族性痉挛性截瘫相关的May-Hegglin异常的家族。先证者是一名39岁男性。他的外周血显示白细胞中有Döhle样包涵体、巨大血小板和血小板减少。他从20岁起就一直患有进行性痉挛性截瘫步态障碍。他处于慢性肾衰竭状态，并伴有感觉性听力障碍。他的两个孩子表现出类似的血液学异常和痉挛性步态。据我们所知，这是文献中首例与家族性痉挛性截瘫相关的May-Hegglin异常病例。
