Fahr syndrome is a rare neurodegenerative disorder characterized by symmetrical, bilateral calcifications in the basal ganglia, nucleus gyrus and cerebral cortex. The continuous advancement as well as widespread use of brain imaging have contributed to the increasing detection rates of such changes. Nevertheless, their etiology is understood only partially and the methods of causative treatment are limited. Due to various symptoms, Fahr syndrome may resemble diseases from the field of neurology, psychiatry, cardiology and even urology. This article provides an up-to-date review of the literature concerning Fahr syndrome in terms of clinical practice.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894054 | PMC |
| http://dx.doi.org/10.12659/PJR.902024 | DOI Listing |
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Fahr's syndrome is a rare neurological disorder that shows up as calcium deposits in the brain, affecting motor control and cognitive functions. In this case report, a 45-year-old woman with schizophrenia was diagnosed with Fahr's syndrome, which can be challenging to diagnose due to coexisting neurological comorbidity.
View Article and Find Full Text PDFAcute Cerebellar Infarct in A Patient with Undiagnosed Fahr Syndrome: A Case Report.
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University of Louisville Health, Louisville, Kentucky.
Introduction: Fahr disease and Fahr syndrome represent clinical entities that result in diffuse intracranial brain calcification, either by way of genetic mutation in the case of the former or by secondary endocrine dysfunction in the latter.
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Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of Neuromodulation, Capital Medical University, Beijing, China; Center of Epilepsy, Beijing Institute for Brain Disorders, Capital Medical University, Ministry of Science and Technology, Beijing, China; Institute of sleep and consciousness disorders, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China; Hebei Hospital of Xuanwu Hospital, Capital Medical University, Shijiazhuang, China; Neuromedical Technology Innovation Center of Hebei Province, Shijiazhuang, China. Electronic address:
Fahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.
Int J Mol Sci
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State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710000, China.
Article Synopsis
- - Fahr's syndrome is a rare neurodegenerative disorder with under-explored oral manifestations; this study examines the dental features and genetic aspects using a specific patient case and literature review.
- - The examined patient exhibited several dental issues, including extra teeth, missing teeth, and enamel problems, but genetic testing did not identify known mutations linked to her conditions.
- - A review of previous cases revealed that patients with Fahr's syndrome and related disorders share common oral problems, suggesting that dental anomalies may be significant features in understanding these conditions.
Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.
Front Genet
August 2024
Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr's syndrome with "near" sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, experienced loss of consciousness 2 days prior, which was followed by two limb and facial convulsions. He was later found in cardiac arrest during hospitalization, but regained consciousness gradually after receiving cardiopulmonary resuscitation and tracheal intubation.
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