Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment

Intern Med. 2014;53(12):1377-80. doi: 10.2169/internalmedicine.53.1932. Epub 2014 Jun 15.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cognition Disorders / etiology*
  • Diagnosis, Differential
  • Female
  • Hemiplegia / etiology*
  • Humans
  • Leukoencephalopathies / complications
  • Leukoencephalopathies / diagnosis
  • Leukoencephalopathies / psychology
  • Multiple Sclerosis / diagnosis
  • Muscle Spasticity / etiology*
  • Mutation / genetics
  • Receptor, Macrophage Colony-Stimulating Factor / genetics
  • Young Adult

Substances

  • Receptor, Macrophage Colony-Stimulating Factor

Supplementary concepts

  • Hereditary Diffuse Leukoencephalopathy with Spheroids