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- Title
A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis.
- Authors
Saitoh, Ban-yu; Yamasaki, Ryo; Hayashi, Shintaro; Yoshimura, Satoshi; Tateishi, Takahisa; Ohyagi, Yasumasa; Murai, Hiroyuki; Iwaki, Toru; Yoshida, Kunihiro; Kira, Jun-ichi
- Abstract
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.
- Subjects
MULTIPLE sclerosis; PROGRESSIVE multifocal leukoencephalopathy; COLONY-stimulating factors (Physiology); BIOPSY; MAGNETIC resonance imaging; PATIENTS
- Publication
Multiple Sclerosis Journal, 2013, Vol 19, Issue 10, p1367
- ISSN
1352-4585
- Publication type
Case Study
- DOI
10.1177/1352458513489854