Fahr syndrome from primary hypoparathyroidism in a 65-year-old woman with refractory seizures and neuropsychiatric manifestations: a case report

Background

Fahr syndrome is a rare neurodegenerative condition marked by symmetrical, bilateral calcifications in the basal ganglia and cerebral cortex, frequently associated with parathyroid dysfunction. Although its radiological features are well recognized, the clinical manifestations vary widely, making diagnosis difficult in many cases. Case summary: We describe a 65-year-old woman who had experienced seizures over the past year, along with progressive behavioral changes, episodic hallucinations, gait ataxia, and dysarthria. Laboratory tests showed a characteristic triad of hypocalcemia, hyperphosphatemia, and suppressed parathyroid hormone levels, confirming primary hypoparathyroidism. Brain CT and MRI scans revealed the hallmark bilateral intracranial calcifications, supporting a diagnosis of Fahr syndrome. The diagnostic process was complicated by limited access to parathyroid hormone testing and financial constraints, resulting in delayed confirmation of the underlying metabolic disorder. The patient was treated with intravenous phenytoin followed by oral sodium valproate and levetiracetam, together with intravenous calcium gluconate, oral calcium, and vitamin D supplementation. Treatment achieved complete seizure control during hospitalization, with no recurrence during the 6-month follow-up. However, intracranial calcifications persisted on repeat neuroimaging.