Fahr’s Disease: Case Presentation With Facial Numbness

Fahr's disease is a rare hereditary neurological disorder characterized by idiopathic basal ganglia and cerebral cortex calcifications. It presents a wide range of neurological manifestations, including motor dysfunction, sensory deficits, seizures, headaches, visual disturbances, and movement disorders. We present a case report of a 42-year-old female who presented to the accident and emergency department with a stroke alert. Her main symptom was left facial numbness. Otherwise, she was fit and well. A CT scan of her head revealed significant bilateral basal ganglia calcifications rather than ischaemic or haemorrhagic changes. Blood tests showed normal serum calcium, normal phosphate, and normal parathyroid hormone levels. Upon further inquiry, she mentioned that her sister had been diagnosed with similar findings on a brain scan. Subsequently, an MRI scan of her brain was performed, which suggested Fahr's disease. Currently, there is no definitive management available, so a conservative management approach is usually employed based on symptomatology. This case is particularly interesting due to its rarity, strong genetic inheritance, and the development of a management plan.