抄録
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.
本文言語 | 英語 |
---|---|
ページ(範囲) | 1367-1370 |
ページ数 | 4 |
ジャーナル | Multiple Sclerosis Journal |
巻 | 19 |
号 | 10 |
DOI | |
出版ステータス | 出版済み - 9 2013 |
All Science Journal Classification (ASJC) codes
- Neurology
- Clinical Neurology