(Kiosk 3) A Rehabilitation Perspective on Fahr’s Disease: A Case Report

Case Diagnosis: Fahr’s Disease

Case Description or Program Description: 50-year-old male with no significant past medical history presented to the acute care hospital with a 6-week history of progressively worsening balance resulting in multiple falls. Physical exam demonstrated tremors, bilateral dysmetria, dyskinesias, chorea, hyperreflexia, and diminished left-sided facial sensation.

Setting: Acute Inpatient Rehabilitation Unit

Assessment/Results: On presentation to acute care, CT head was significant for calcifications in the bilateral basal ganglia, thalamus, and cerebellar hemispheres. MRI brain showed symmetrical increased susceptibility secondary to mineralization in bilateral basal ganglia, thalami, cerebellum, and dentate nuclei. Labs including calcium, magnesium, phosphorus, PTH, TSH, T4, B12, vitamin D, mercury, copper were within normal limits. Infectious workup was unremarkable. He was initiated on Levodopa-Carbidopa by Neurology and transferred to an acute rehabilitation unit for improvement in mobility, safety, independence with ADLs, functional transfers and fall prevention. Unfortunately, his symptoms limited his ability to participate in therapy and required Neurology consultation for symptom management. Amantadine was initiated but discontinued shortly thereafter as it resulted in increased tremors and chorea. Symptoms improved following establishment of sleep regimen, discontinuation of Amantadine, as well as optimization of Levodopa-Carbidopa. He progressed well with therapies and was ultimately able to ambulate with a walker.

Discussion (relevance): Fahr's disease is a rare genetic disorder characterized by the abnormal deposition of calcium in various parts of the brain, including the basal ganglia, thalamus, and cerebellum. The resulting neurological symptoms can include tremors, cognitive impairment, movement disorders, and seizures. There is no definitive cure for Fahr's disease and treatment is primarily symptomatic and supportive. Comprehensive workup that excludes metabolic and infectious causes is important in distinguishing this process from Fahr’s Syndrome. Routine follow-up with neurology and physiatry can play an important role in optimizing quality of life and functional outcomes.

Conclusions: A multi-disciplinary approach to a comprehensive rehabilitation program can play an important role in managing the symptoms of Fahr's disease and improving patients' functional mobility and quality of life.