Abstract Background: Fahr Disease (FD) is a rare neurodegenerative disease characterized by symmetrical and bilateral calcifications of basal ganglia. The most common clinical symptoms are movement and behavioral disorders and cognitive impairment, probably due to the perivascular calcium deposition. It is still unclear if there is an association with an increased cerebrovascular risk. Case Report: A 76-years-old woman, affected by hypertension and polygenic hypercholesterolemia, was admitted to our department because of progressive motor troubles and cognitive impairment. A diagnosis of FD was established. A right-hemiplegia and dysarthria suddenly appeared with the comparison at CT-scans of a macro-lacunar ictus in left corona radiata and lentiform nucleus. Discussion: Even though the patient had known cerebrovascular risk factors, a correlation between FD and the macro-lacunar stroke cannot be excluded, especially because of the unusual size of the lesion. With this background, the existing literature has been reviewed. A marked reduction in cerebral flow, perhaps due to the perivascular calcium deposits, has been described not only in basal ganglia but also even in cortical regions. In addition, based on the occurrence of cerebrovascular disease in FD even without other risk factors, stroke could be a part of the disease’s natural history, even if the pathophysiology remains unclear. Conclusion: Although systematic studies are lacking, this case report further supports a potential pathogenetic role of FD in cerebrovascular diseases.
Fahr's Disease and Cerebrovascular Disease: A CaseReport and Literature Review
Spampinato MD;
2018
Abstract
Abstract Background: Fahr Disease (FD) is a rare neurodegenerative disease characterized by symmetrical and bilateral calcifications of basal ganglia. The most common clinical symptoms are movement and behavioral disorders and cognitive impairment, probably due to the perivascular calcium deposition. It is still unclear if there is an association with an increased cerebrovascular risk. Case Report: A 76-years-old woman, affected by hypertension and polygenic hypercholesterolemia, was admitted to our department because of progressive motor troubles and cognitive impairment. A diagnosis of FD was established. A right-hemiplegia and dysarthria suddenly appeared with the comparison at CT-scans of a macro-lacunar ictus in left corona radiata and lentiform nucleus. Discussion: Even though the patient had known cerebrovascular risk factors, a correlation between FD and the macro-lacunar stroke cannot be excluded, especially because of the unusual size of the lesion. With this background, the existing literature has been reviewed. A marked reduction in cerebral flow, perhaps due to the perivascular calcium deposits, has been described not only in basal ganglia but also even in cortical regions. In addition, based on the occurrence of cerebrovascular disease in FD even without other risk factors, stroke could be a part of the disease’s natural history, even if the pathophysiology remains unclear. Conclusion: Although systematic studies are lacking, this case report further supports a potential pathogenetic role of FD in cerebrovascular diseases.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
