Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms
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 t...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2023-08-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X231197521 |
| _version_ | 1797730137629786112 |
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| author | Bahadar S Srichawla Eduardo Andrade Vincent Kipkorir |
| author_facet | Bahadar S Srichawla Eduardo Andrade Vincent Kipkorir |
| author_sort | Bahadar S Srichawla |
| collection | DOAJ |
| description | 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 -PO 4 3- homeostasis, deficient cellular PO 4 3- 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. |
| first_indexed | 2024-03-12T11:39:53Z |
| format | Article |
| id | doaj.art-b911b29479204b7e913d7a5c579d4dbb |
| institution | Directory Open Access Journal |
| issn | 2050-313X |
| language | English |
| last_indexed | 2024-03-12T11:39:53Z |
| publishDate | 2023-08-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj.art-b911b29479204b7e913d7a5c579d4dbb2023-08-31T18:04:18ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2023-08-011110.1177/2050313X231197521Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanismsBahadar S Srichawla0Eduardo Andrade1Vincent Kipkorir2Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, USADepartment of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, USAUniversity of Nairobi School of Medicine, Nairobi, KenyaBrain 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 -PO 4 3- homeostasis, deficient cellular PO 4 3- 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.https://doi.org/10.1177/2050313X231197521 |
| spellingShingle | Bahadar S Srichawla Eduardo Andrade Vincent Kipkorir Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms SAGE Open Medical Case Reports |
| title | Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms |
| title_full | Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms |
| title_fullStr | Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms |
| title_full_unstemmed | Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms |
| title_short | Decoding brain calcifications: A single-center descriptive case series and examination of pathophysiological mechanisms |
| title_sort | decoding brain calcifications a single center descriptive case series and examination of pathophysiological mechanisms |
| url | https://doi.org/10.1177/2050313X231197521 |
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