title: Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment.
abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a young-adult-onset autosomal dominant white matter disease characterized by progressive cognitive dysfunction. We herein report the case of a 20-year-old woman who developed spastic hemiplegia. Brain magnetic resonance imaging revealed increased bilateral T2 signal intensity and bright diffusion-weighted imaging signals with a low apparent diffusion coefficient within the frontoparietal white matter. The lesion gradually expanded for over one year. The patient was initially diagnosed with multiple sclerosis (MS); however, she did not respond to immunosuppressive therapy. DNA sequencing showed a heterozygous c.2381T>C mutation in colony-stimulating factor 1 receptor. HDLS with a pure motor phenotype is sometimes difficult to differentiate from MS.
authors.affiliation: Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan.
authors.forename: Fukiko
authors.initials: F
authors.lastname: Kitani-Morii
authors.forename: Takashi
authors.initials: T
authors.lastname: Kasai
authors.forename: Kei
authors.initials: K
authors.lastname: Tomonaga
authors.forename: Kozo
authors.initials: K
authors.lastname: Saito
authors.forename: Ikuko
authors.initials: I
authors.lastname: Mizuta
authors.forename: Akira
authors.initials: A
authors.lastname: Yoshioka
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Toshiki
authors.initials: T
authors.lastname: Mizuno
mesh_terms: D003072:Cognition Disorders / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006429:Hemiplegia / Q000209:etiology*; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications / Q000175:diagnosis / Q000523:psychology; D009103:Multiple Sclerosis / Q000175:diagnosis; D009128:Muscle Spasticity / Q000209:etiology*; D009154:Mutation / Q000235:genetics; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics; D055815:Young Adult
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor