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21 June 2015 : Case report  Italy

Quantitative MR Markers and Psychiatric Symptoms in a Patient with Fahr Disease

Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Viviana Lo BuonoABDEF, Francesco CoralloEF, Antonio CostaB, Placido BramantiAD, Silvia MarinoABCDEF

DOI: 10.12659/AJCR.893163

Am J Case Rep 2015; 16:382-385


BACKGROUND: Fahr’s disease (FD), or primitive idiopathic calcification of the basal ganglia, is a rare neurodegenerative syndrome characterized by the presence of idiopathic bilateral and symmetrical cerebral calcifications.

CASE REPORT: We describe the case of 43-year-old woman presenting with psychiatric symptoms, disorganized behavior, and migraine. Magnetic resonance imaging (MRI) examination showed basal ganglia calcifications. In addition, we analyzed the cortical brain volume and noted cortical atrophy. Extensive etiological clinico-biological assessment allowed us to exclude known causes of brain calcifications and to diagnose Fahr disease (FD). Neurological symptoms associated with psychiatric manifestations are not uncommon in FD.

CONCLUSIONS: Purely psychiatric presentations are possible, as demonstrated by the present case, although there have been very few cases reported. To date, no studies related to the brain atrophy in FD have been reported.

Keywords: Basal Ganglia - pathology, Basal Ganglia Diseases - diagnosis, Calcinosis - diagnosis, Cognition - physiology, Magnetic Resonance Imaging - methods, Mental Disorders - psychology, Neurodegenerative Diseases - diagnosis, Tomography, X-Ray Computed

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923