Late-onset CSF1R-related Disorder: A Case Report

CSF1R-related disorder, a catastrophic neurodegenerative disease, arises from genetic mutations in the colony-stimulating CSF1R. Initial misdiagnosis is common, as demonstrated by this case involving a 52-year-old female who presented with symptoms of limb numbness and weakness. Differential diagnosis first indicated Parkinsonism, lacunar infarction, and cervical spondylosis. Subsequently, however, this patient's clinical presentation evolved to include bradykinesia, cognitive decline, and a spectrum of neurological manifestations. A Pan-V2 assay revealed a heterozygous mutation in the CSF1R gene. Craniocerebral MRI showed cerebral infarctions, lacunar infarctions, and leukoaraiosis. Despite symptomatic treatments, our patient's clinical status continued to decline until her family chose to discontinue further medical interventions. This case underscores the diagnostic complexities of early detection of CSF1R-related disorders. It emphasizes the importance of including leukodystrophy in such differential diagnoses and the need for prompt genetic screening in patients who present with progressive leukoencephalopathy, especially when cerebrospinal fluid analysis is unremarkable.