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

Multiple sclerosis (Houndmills, Basingstoke, England) - 1 Sept 2013

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

Abstract excerpt

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...

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PMID: 23698128
DOI: 10.1177/1352458513489854

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