A middle-aged male with incidentally-discovered primary familial brain calcification: A case report

Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by bilateral basal ganglia and dentate nuclei calcifications, with signs and symptoms often manifesting between 30 and 60 years, although many affected individuals remain asymptomatic. Herein, we present a 51-year-old male with bilateral basal ganglia and dentate nuclei calcifications found incidentally by brain computed tomography (CT) performed for sinus complaints. He had no associated signs or symptoms. The proband’s deceased mother’s last brain CT showed comparable brain calcifications. The proband’s daughter was being evaluated for neurologic signs and symptoms associated with abnormal lesions on brain magnetic resonance imaging. Her brain CT revealed bilateral basal ganglia calcifications. Genetic testing on the proband and his daughter revealed a novel heterozygous autosomal dominant mutation in the platelet-derived growth factor subunit B gene. Since most affected individuals are often past childbearing years before PFBC diagnosis, it is crucial to perform family planning and genetic counseling in consideration of family history.