Kitani-Morii Fukiko, Kasai Takashi, Tomonaga Kei, Saito Kozo, Mizuta Ikuko, Yoshioka Akira, Nakagawa Masanori, Mizuno Toshiki
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan.
Intern Med. 2014;53(12):1377-80. doi: 10.2169/internalmedicine.53.1932. Epub 2014 Jun 15.
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a young-adult-onset autosomal dominant white matter disease characterized by progressive cognitive dysfunction. We herein report the case of a 20-year-old woman who developed spastic hemiplegia. Brain magnetic resonance imaging revealed increased bilateral T2 signal intensity and bright diffusion-weighted imaging signals with a low apparent diffusion coefficient within the frontoparietal white matter. The lesion gradually expanded for over one year. The patient was initially diagnosed with multiple sclerosis (MS); however, she did not respond to immunosuppressive therapy. DNA sequencing showed a heterozygous c.2381T>C mutation in colony-stimulating factor 1 receptor. HDLS with a pure motor phenotype is sometimes difficult to differentiate from MS.
遗传性弥漫性白质脑病伴球形细胞（HDLS）是一种成年起病的常染色体显性白质疾病，其特征为进行性认知功能障碍。我们在此报告一名20岁女性出现痉挛性偏瘫的病例。脑磁共振成像显示双侧额顶叶白质T2信号强度增加，弥散加权成像信号呈高信号，表观扩散系数低。病变在一年多的时间里逐渐扩大。患者最初被诊断为多发性硬化症（MS）；然而，她对免疫抑制治疗无反应。DNA测序显示集落刺激因子1受体存在杂合性c.2381T>C突变。具有纯运动表型的HDLS有时难以与MS区分开来。
