Late-onset CSF1R-related Disorder: A Case Report

Area of Science:

• Neurogenetics
• Neurodegenerative Diseases
• Molecular Medicine

Background:

• CSF1R-related disorder is a rare, severe neurodegenerative condition caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene.
• Early symptoms can mimic other neurological disorders, leading to diagnostic delays and challenges.

Purpose of the Study:

• To highlight the diagnostic complexities associated with CSF1R-related disorder.
• To emphasize the importance of considering leukodystrophy in differential diagnoses.
• To advocate for prompt genetic screening in specific patient populations.

Main Methods:

• Case report of a 52-year-old female with progressive neurological decline.
• Clinical presentation analysis, including initial differential diagnoses.
• Genetic testing (Pan-V2 assay) to identify CSF1R gene mutation.
• Craniocerebral MRI for neuroimaging findings.

Main Results:

• The patient presented with limb numbness and weakness, initially misdiagnosed.
• Clinical evolution included bradykinesia, cognitive decline, and neurological manifestations.
• A heterozygous CSF1R gene mutation was identified.
• MRI revealed cerebral infarctions, lacunar infarctions, and leukoaraiosis.

Conclusions:

• CSF1R-related disorders present significant diagnostic challenges, often leading to initial misdiagnosis.
• Leukodystrophy should be included in the differential diagnosis for progressive leukoencephalopathy.
• Genetic screening is vital for early detection in patients with unexplained progressive leukoencephalopathy and unremarkable CSF analysis.