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Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms

Srichawla, Bahadar S
Andrade, Eduardo
Kipkorir, Vincent
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UMass Chan Affiliations
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Case Report
Publication Date
2023-08-30
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Abstract

Brain calcifications, previously known as Fahr's disease, is a rare neurological disorder marked by various clinical symptoms, including movement disorders, cognitive impairment, and psychiatric disturbances. Despite its clinical importance, its pathophysiology is unclear and there are no specific treatments. We present four cases of brain calcifications from our tertiary care center, with three female patients (75%) and an average age of 63 years. Our cohort featured both genetic and endocrine etiologies, including one primary familial brain calcification case with a c.852del frameshift mutation in the SLC20A2 gene, and two endocrinopathy-related cases. One patient had an acute stroke which may have been contributed by brain calcifications. Computerized tomography and magnetic resonance imaging scans revealed basal ganglia and dentate nucleus calcifications. Treatment involved physical and occupational therapy in all patients. Hypoparathyroidism-related brain calcifications were treated with oral supplementation with calcitriol, calcium, and vitamin D. Three patients showed improvement or stability of their symptoms. This case series underscores the diverse clinical presentations and etiologies of brain calcifications. The complex pathophysiology involves disrupted Ca+2-PO43- homeostasis, deficient cellular PO43- transport, and vascular irregularities in genetic etiologies. Future research should focus on identifying novel genetic mutations, understanding molecular pathways, and refining diagnostic techniques. Integrating multidisciplinary approaches may improve diagnosis, management, and prognosis for patients with this intricate neurological disorder.

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Srichawla BS, Andrade E, Kipkorir V. Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms. SAGE Open Med Case Rep. 2023 Aug 30;11:2050313X231197521. doi: 10.1177/2050313X231197521. PMID: 37663154; PMCID: PMC10474788.

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10.1177/2050313X231197521
PubMed ID
37663154
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© The Author(s) 2023. Creative Commons License (CC BY-NC 4.0) This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). Request permissions for this article.Attribution-NonCommercial 4.0 International