AccScience Publishing / AN / Online First / DOI: 10.36922/an.4854
CASE REPORT

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

Hal Steven Farkas1 Richard Thomas Leschek2 Ellen Werber Leschek3*
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1 Medical School, College of Osteopathic Medicine, Nova Southeastern University, Fort Lauderdale, Florida, United States of America
2 Mid-Maryland Neurology, Frederick, Maryland, United States of America
3 Division of Diabetes, Endocrinology and Metabolic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States of America
Advanced Neurology, 4854 https://doi.org/10.36922/an.4854
Submitted: 14 September 2024 | Accepted: 25 November 2024 | Published: 10 December 2024
© 2024 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
Abstract

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.

Keywords
Primary familial brain calcification
Fahr’s disease
Fahr’s syndrome
Platelet-derived growth factor subunit B
Funding
None.
Conflict of interest
The authors declare that they have no competing interests.
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Advanced Neurology, Electronic ISSN: 2810-9619 Print ISSN: 3060-8589, Published by AccScience Publishing