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
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.
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.
