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

Ban Yu Saitoh, Ryo Yamasaki, Shintaro Hayashi, Satoshi Yoshimura, Takahisa Tateishi, Yasumasa Ohyagi, Hiroyuki Murai, Toru Iwaki, Kunihiro Yoshida, Jun Ichi Kira

Research output: Contribution to journalArticle

28 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1367-1370
Number of pages4
JournalMultiple Sclerosis Journal
Volume19
Issue number10
DOIs
Publication statusPublished - Sep 2013

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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