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Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids

Yuka Terasawa1, Yusuke Osaki, Toshitaka Kawarai

  • 1Department of Clinical Neuroscience, Institute of Health Biosciences, Graduate School of Medicine, The University of Tokushima, Tokushima, Japan.

Journal of the Neurological Sciences
|October 8, 2013
PubMed

Insights

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) can be diagnosed early using distinctive MRI findings. A novel CSF1R mutation was identified in a patient with progressive cognitive decline.

Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder.
  • Early diagnosis is crucial for managing progressive cognitive decline.

Observation:

  • A 52-year-old woman presented with an 18-month history of progressive cognitive decline and a family history of juvenile dementia.
  • Brain MRI revealed increasing white matter hyperintensities on diffusion-weighted images and linear high-intensity signals along axonal fibers.
  • Brain CT scan showed subcortical calcifications.

Findings:

  • Genetic analysis identified a novel missense mutation c.2467C>T (p.Ala823Val) in the CSF1R gene.
  • Persistent and increasing diffusion on MRI, likely indicating intramyelinic edema, was a distinctive feature.

Implications:

  • The unique MRI findings, particularly persistent diffusion changes, can serve as an early diagnostic clue for HDLS.
  • Identification of a novel CSF1R mutation expands the genetic understanding of HDLS.
  • This case highlights the importance of integrating advanced neuroimaging and genetic analysis for diagnosing rare neurological disorders.
Keywords:
Colony stimulating factor 1 receptor (CSF1R)DiagnosisDiffusion-weighted imaging (DWI)Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS)Magnetic resonance imaging (MRI)dJuvenile dementia

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