Objective: The objective of this case report is to document a case of Fahr’s syndrome including its varied clinical manifestations.

Background: Idiopathic basal ganglia calcification, also known as Fahr’ s disease or Fahr’ s syndrome, is a rare inherited neurological disorder. It is characterized by abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, thalamus, lentiform and dentate nucleus. Clinically, patients may present with a variety of neurologic and neuropsychiatric features, as well as movement disorders .

Methods: A case of Fahr’s syndrome is presented with a concise history, laboratory work-up and imaging studies.

Results: A 30-year old Filipino female with polycystic ovaries presented with insidious onset of myoclonic jerks and hearing problems. Neurologic examination showed horizontal gaze nystagmus, positive Rinne test, mild dysarthria and difficulty in doing tandem gait. EEG findings were consistent with myoclonic epilepsy. Pure tone audiogram showed conductive hearing loss on the left ear and mild sensorineural hearing loss on the right ear. Neuroimaging showed bilateral calcifications in the caudate nucleus, globus pallidus and both thalami .

Conclusions: We have ruled out secondary causes of Fahr’s disease in this case, genetic studies are currently underway for this patient.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/fahrs-syndrome-in-a-filipino-female-with-hearing-loss-and-polycystic-ovaries-a-case-report/