A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

被引：36
作者：
Saitoh, Ban-yu [1 ]
Yamasaki, Ryo [2 ]
Hayashi, Shintaro [1 ]
Yoshimura, Satoshi [1 ]
Tateishi, Takahisa [1 ]
Ohyagi, Yasumasa [2 ]
Murai, Hiroyuki [1 ]
Iwaki, Toru [3 ]
Yoshida, Kunihiro [4 ]
Kira, Jun-ichi [1 ]
机构：
[1] Kyushu Univ, Dept Neurol, Neurol Inst, Grad Sch Med Sci, Fukuoka 8128582, Japan
[2] Kyushu Univ, Dept Neurol Therapeut, Neurol Inst, Grad Sch Med Sci, Fukuoka 8128582, Japan
[3] Kyushu Univ, Dept Neuropathol, Neurol Inst, Grad Sch Med Sci, Fukuoka 8128582, Japan
[4] Shinshu Univ, Dept Brain Dis Res, Sch Med, Matsumoto, Nagano, Japan
来源：
MULTIPLE SCLEROSIS JOURNAL | 2013年 / 19卷 / 10期
关键词：
Leukoencephalopathy; CSF1R; spheroid; multiple sclerosis; demyelination; microglia; T cell; ADULT-ONSET LEUKOENCEPHALOPATHY; NEUROAXONAL SPHEROIDS; LEUKODYSTROPHY;
D O I：
10.1177/1352458513489854
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report a sporadic case of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) confirmed by biopsy and colony-stimulating factor 1 receptor (CSF1R) sequencing. A 28-year-old woman developed progressive spastic gait and dysarthria. Brain T2/FLAIR-weighted magnetic resonance imaging showed bilateral high signal intensity lesions in the parietal deep white matter, which subsequently extended anteriorly. Biopsied brain specimens demonstrated demyelinated white matter tissue with axonal spheroids infiltrated with foamy macrophages, and CD8(+) and CD4(+) T cells. She had a heterozygous mutation, c.2381T>C (p.782 Ile>Thr), in CSF1R. This is the first genetically proven case of HDLS mimicking primary progressive multiple sclerosis.
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收藏
页码：1367 / 1370
页数：4
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