Department of Neurology, Tokushima Hospital, National Hospital Organization, Tokushima, Japan.
J Neurol Sci. 2013 Nov 15;334(1-2):192-5. doi: 10.1016/j.jns.2013.08.020. Epub 2013 Aug 29.
HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and ataxia. Genetic defects in the colony-stimulating factor 1 receptor (CSF1R) gene have been reported in many HDLS cases. The present report describes a new missense mutation Arg777Gln involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like lesions mimicking primary progressive multiple sclerosis. The patient was initially diagnosed with a progressive variant of multiple sclerosis and received inadequate treatments. Although most HDLS cases have a positive family history, this disease should also be suspected in sporadic patients showing unusual white matter lesions at MRI.
遗传性弥漫性脑白质病变伴硬化症（HDLS）是一种遗传性脑白质病变，其主要临床表现包括帕金森病、痉挛和共济失调。在许多 HDLS 病例中，已报道集落刺激因子 1 受体（CSF1R）基因的遗传缺陷。本报告描述了一例散发性患者 CSF1R 基因外显子 18 中涉及 Arg777Gln 的新错义突变，该患者表现为类似于原发性进行性多发性硬化的肿瘤样病变。该患者最初被诊断为进行性多发性硬化的变异型，并接受了不充分的治疗。尽管大多数 HDLS 病例具有阳性家族史，但对于 MRI 显示不寻常的白质病变的散发性患者，也应怀疑该疾病。
