A Rare Case of Fahr'S Disease Presenting as Epileptic Seizure in the Emergency Department

Abstract

Fahr's disease (striato-pallido-dentate calcifications) is a rare neurodegenerative disorder characterised by bihemispherical and symmetrical calcium deposits in certain areas of the brain, particularly in the basal ganglia. We report an unusual case of Fahr's disease in a 36-year-old man who presented with generalised seizure in our emergency department. Basing on clinical, radiological, and endocrinological aspects, the patient was diagnosed as Fahr's disease associated with hypoparathyroidism. Administration of parenteral calcium and calcitriol supplementation were started in the emergency department. The clinical outcome was favourable after the treatment. The case illustrates that Fahr's disease, though rarely seen, has to be considered in a patient with convulsive state associated with calcifications of the basal ganglia. Systematically searching for dysparathyroidism in such patients is extremely important. (Hong Kong j.emerg.med. 2010;17:262-264) 36

Fahr’s Disease: Case Presentation With Facial Numbness

“…Aetiology could range from metabolic disorders, such as hypoparathyroidism and pseudohypoparathyroidism [ 5 ], as reported by Basak RC, to infective, genetic, and neoplastic causes, hence clinical presentation is in turn variable. It can manifest as movement disorders, parkinsonism, memory decline, seizures, and neuropsychiatric symptoms [ 1 ]. It can also be asymptomatic.…”

“…Fahr's syndrome is an autosomal dominant, genetically inherited neurological disorder characterized by abnormal calcium deposition in different areas of the brain, including basal ganglia and the cerebral cortex. The presentation may vary from motor dysfunction, dysarthria, increased spasticity, seizures, sensory deficit, and parkinsonism [ 1 ]. This case report is about an incidental finding of bilateral basal ganglia calcification in a patient with sensory symptoms who was initially investigated for a stroke.…”