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Advanced Neurology Incidental PFBC: Case report

could be why these are the only gene mutations related Funding
to this pathological condition that has been reported to
give rise to this subcortical white matter finding. It may None.
10
also be the reason that clinicians seeing undiagnosed Conflict of interest
PFBC patients with subcortical white matter lesions are
sometimes misled, pursuing the diagnosis of multiple The authors declare that they have no competing interests.
sclerosis, as was the case with our proband’s daughter and Author contributions
possibly another individual reported in the literature. 14
While a handful of individuals with PDGFB and Conceptualization: All authors
PDGFRB mutations have been reported to have associated Investigation: All authors
subcortical white matter lesions (described here), the Methodology: Richard Thomas Leschek
other reported individuals with these mutations did not Writing–original draft: All authors
have white matter abnormalities. This is likely because Writing–review & editing: All authors
PFBC can have variable penetrance with respect to clinical Ethics approval and consent to participate
manifestations. Clinical phenotypes of PFBC are very
diverse, even within families and among those with the Patients gave consent to publish their data in this study.
same genetic mutations. 15 Consent for publication
MRI is the method of choice for the evaluation of most
neurologic disorders when brain imaging is indicated, Written consent was obtained from the proband and his
and CT scan is increasingly excluded as an assessment daughter to publish the contents of this manuscript. Both
tool in this setting. Unfortunately, this approach can be were given the opportunity to review the manuscript draft.
misleading in individuals with PFBC because intracerebral Availability of data
calcifications are best detected with CT scan. This was the
case with our proband’s daughter, whose MRI showed only Not applicable.
subcortical white matter lesions, which were suggestive of References
a demyelinating disease such as multiple sclerosis. Once
the proband was diagnosed with PFBC, the daughter 1. Saade C, Najem E, Asmar K, Salman R, El Achkar B,
underwent a brain CT scan and genetic testing, which Naffaa L. Intracranial calcifications on CT: An updated
clearly demonstrated that she also had PFBC and that this review. J Radiol Case Rep. 2019;13(8):1-18.
was the cause of her clinical and neuroradiologic findings. doi: 10.3941/jrcr.v13i8.3633
4. Conclusion 2. Zhao T, Xu S, Liu S, Xu J, Zhang X, Zhan Y. Fahr’s
disease linked to a novel mutation in MYORG variants
Signs and symptoms of PFBC typically manifest between manifesting as paroxysmal limb stiffness and dysarthria:
30 and 60 years of age and progress gradually. This is Case report and literature review. Mol Genet Genomic Med.
16
significant as many patients are well into their childbearing 2023;11(12):e2276.
years when the diagnosis becomes apparent. As is evident doi: 10.1002/mgg3.2276
in the case presented here, multiple generations can be 3. Westenberger A, Balck A, Klein C. Primary familial brain
affected within a family before a diagnosis is made. In calcifications: Genetic and clinical update. Curr Opin Neurol.
addition, the clinical presentation of PFBC can be quite 2019;32(4):571-578.
variable. If individuals are unaware that they have a doi: 10.1097/WCO.0000000000000712
family history of PFBC, they may unknowingly pass the
deleterious gene to their offspring. To facilitate family 4. Idiopathic Basal Ganglia Calcification Panel.
planning and genetic counseling, it is important for PreventionGenetics. Available from: https://www.
practitioners to take a careful family history and consider preventiongenetics.com/testinfo?val=idiopathic-basal-
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Acknowledgments doi: 10.1016/j.parkreldis.2016.12.024
None. 6. Balck A, Schaake S, Kuhnke NS, et al. Genotype-phenotype

Volume 4 Issue 4 (2025) 104 doi: 10.36922/an.4854