Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Viviana Lo Buono, Francesco Corallo, Antonio Costa, Placido Bramanti, Silvia Marino
Institute of Hospitalization and Care Scientific (IRCCS), Centro Neurolesi “Bonino Pulejo”, Messina, Italy
Am J Case Rep 2015; 16:382-385
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, Adult, Basal Ganglia Diseases - diagnosis, Calcinosis - diagnosis, Cognition - physiology, Female, Humans, Magnetic Resonance Imaging - methods, Mental Disorders - psychology, Neurodegenerative Diseases - diagnosis, Tomography, X-Ray Computed