Pettit R E, Berdal K G
Arch Neurol. 1984 Sep;41(9):1001-2. doi: 10.1001/archneur.1984.04050200111031.
A 25-year-old man was first seen with a neurologic disorder that resembled a spinocerebellar degeneration and parkinsonism. A peripheral smear revealed the characteristic peroxidase-positive panleukocytic granules associated with the Chédiak-Higashi syndrome. He did not have any associated oculocutaneous abnormalities. The Chédiak-Higashi syndrome may appear primarily with neurologic dysfunction and should be considered in a differential diagnosis of children and young adults first seen with a spinocerebellar degeneration or movement disorder.
一名25岁男性首次就诊时患有类似脊髓小脑变性和帕金森症的神经系统疾病。外周血涂片显示出与切-希二氏综合征相关的特征性过氧化物酶阳性全白细胞颗粒。他没有任何相关的眼皮肤异常。切-希二氏综合征可能主要表现为神经功能障碍，在初次出现脊髓小脑变性或运动障碍的儿童和年轻人的鉴别诊断中应予以考虑。
