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Advanced Neurology

CASE REPORT
A middle-aged male with incidentally-

discovered primary familial brain calcification: A
case report

Hal Steven Farkas 1 , Richard Thomas Leschek 2 , and Ellen Werber Leschek *
3
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

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
*Corresponding author: CT showed comparable brain calcifications. The proband’s daughter was being
Ellen Werber Leschek evaluated for neurologic signs and symptoms associated with abnormal lesions on
(lescheke@extra.niddk.nih.gov)
brain magnetic resonance imaging. Her brain CT revealed bilateral basal ganglia
Citation: Farkas HS, Leschek RT, calcifications. Genetic testing on the proband and his daughter revealed a novel
Leschek EW. A middle-aged male
with incidentally-discovered primary heterozygous autosomal dominant mutation in the platelet-derived growth
familial brain calcification: A case factor subunit B gene. Since most affected individuals are often past childbearing
report. Adv Neurol. 2025; years before PFBC diagnosis, it is crucial to perform family planning and genetic
4(4):101-105.
doi: 10.36922/an.4854 counseling in consideration of family history.
Received: September 14, 2024
Keywords: Primary familial brain calcification; Fahr’s disease; Fahr’s syndrome; Platelet-
Revised: October 30, 2024
derived growth factor subunit B
Accepted: November 25, 2024
Published online: December 10,
2024
Copyright: © 2024 Author(s). 1. Background
This is an Open-Access article Primary familial brain calcification (PFBC) is a clinically heterogeneous neurodegenerative
distributed under the terms of the
Creative Commons Attribution disorder characterized by abnormal bilateral calcium accumulation associated with the
License, permitting distribution, vasculature in the basal ganglia and often other areas of the brain, including the thalami,
and reproduction in any medium,
1
provided the original work is dentate nuclei, and subcortical white matter. PFBC can present with pyramidal signs,
properly cited. movement disorders, cognitive and/or memory impairment, cerebellar abnormalities
2
Publisher’s Note: AccScience (such as gait disturbance), dysarthria, dysphagia, seizures, and/or sensory changes. Its
Publishing remains neutral with genetic determinants are fully penetrant, but there is decreased penetrance with respect
regard to jurisdictional claims in 3
published maps and institutional to clinical phenotype. Occasionally, asymptomatic individuals are diagnosed due to
affiliations. family history and/or incidental findings on brain imaging. Approximately 33 – 42%

Volume 4 Issue 4 (2025) 101 doi: 10.36922/an.4854