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September 25, 2017 E-Pearl of the Week: Fahr syndrome

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September 25, 2017

Fahr syndrome

Familial idiopathic basal ganglia calcification, previously known as Fahr syndrome, is a rare inherited disease with characteristic imaging findings of symmetric bilateral intracranial calcification, usually of the basal ganglia. The bilateral dentate nuclei are also commonly affected. Patients present with movement disorder symptoms such as dystonia, tremors, chorea, parkinsonism, dyskinesia, and/or neuropsychiatric disease. Diagnosis requires imaging and evaluation for secondary causes of intracranial calcifications such as infections including CMV and toxoplasmosis, mitochondrial diseases, heavy metal toxicity and calcium metabolism disorders. Treatment options include management of calcium/phosphate balance and supportive care.

References:

  1. Saleem S, Aslam HM, Anwar M, et al. Fahr's syndrome: literature review of current evidence. Orphanet Journal of Rare Diseases 2013; 8: 156.

Submitted by Afra Janarious, MD - Neurology Resident, UC Irvine.

Dr. Janarious reports no disclosures.

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