title: A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis.
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.
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Ban-yu
authors.initials: BY
authors.lastname: Saitoh
authors.forename: Ryo
authors.initials: R
authors.lastname: Yamasaki
authors.forename: Shintaro
authors.initials: S
authors.lastname: Hayashi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yoshimura
authors.forename: Takahisa
authors.initials: T
authors.lastname: Tateishi
authors.forename: Yasumasa
authors.initials: Y
authors.lastname: Ohyagi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Murai
authors.forename: Toru
authors.initials: T
authors.lastname: Iwaki
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yoshida
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D001483:Base Sequence; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics; D008969:Molecular Sequence Data; D020528:Multiple Sclerosis, Chronic Progressive / Q000175:diagnosis*; D009154:Mutation; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor
keywords: CSF1R; Leukoencephalopathy; T cell; demyelination; microglia; multiple sclerosis; spheroid