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CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.

Kensuke Daida1, Kenya Nishioka1, Yuanzhe Li1

  • 1Department of Neurology, Juntendo University School of Medicine, Japan.

Internal Medicine (Tokyo, Japan)
|August 22, 2017
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Summary

This case study highlights a colony-stimulating factor 1 receptor (CSF1R) mutation linked to hereditary leukoencephalopathy with axonal spheroid (HDLS). Specific brain calcification patterns are crucial for diagnosing HDLS and identifying CSF1R mutations.

Keywords:
CSF1Rcalcificationcognitive declinehereditary diffuse leukoencephalopathy with spheroids

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Area of Science:

  • Neurogenetics
  • Neuroradiology
  • White Matter Diseases

Background:

  • Hereditary leukoencephalopathy with axonal spheroid (HDLS) is a rare neurological disorder.
  • Mutations in the colony-stimulating factor 1 receptor (CSF1R) gene are associated with HDLS.
  • Early diagnosis and understanding of HDLS pathogenesis are critical.

Observation:

  • A 47-year-old female presented with early-onset cognitive decline and progressive aphasia.
  • Brain MRI showed alterations consistent with HDLS.
  • Brain CT revealed spotty calcifications in subcortical white matter and a "stepping stone" appearance in pericallosal regions.

Findings:

  • The patient harbored the CSF1R mutation p.G589R.
  • Specific patterns of brain calcification were observed on CT scans.
  • These calcifications are indicative of HDLS.

Implications:

  • Calcification patterns on brain imaging are important diagnostic markers for HDLS.
  • Radiological findings can guide genetic screening for CSF1R mutations.
  • This case deepens the understanding of HDLS presentation and diagnosis.