{"title":"First-time seizure revealing late-onset Fahr's disease: a case report and brief literature review.","authors":"Adugna Lamessa, Kenna Tesfaye, Tamirat Godebo Woyimo, Ermias Habte Gebremichael","doi":"10.3389/fnhum.2024.1456610","DOIUrl":null,"url":null,"abstract":"<p><p>Fahr's disease (FD), otherwise known as primary familial brain calcification, is a rare neurodegenerative condition that involves intracerebral calcification at the level of the basal ganglia and other brain regions. It is an inherited neurologic disorder, although its molecular genetics have not been thoroughly defined. Patients usually present with a wide range of symptoms, predominantly movement disorders and cognitive changes. However, seizures are a rare initial presenting features of late-onset FD in adults. Herein, we present the case of a 60-year-old man with no known chronic illnesses who was admitted to a tertiary hospital after experiencing first-time generalized tonic-clonic seizures and loss of consciousness for two days. Basic laboratory results were within normal limits, and a non-contrast brain computed tomography (CT) scan showed intracerebral calcification. The patient was diagnosed with epilepsy secondary to FD based on its modified diagnostic criteria and responded well to antiepileptic treatment. The case highlights a rare association and emphasizes the importance of considering this diagnosis in patients experiencing an inaugural seizure; appropriate tests should be performed to confirm or rule out other relevant and secondary causes, and the treatment should be modified accordingly.</p>","PeriodicalId":12536,"journal":{"name":"Frontiers in Human Neuroscience","volume":"18 ","pages":"1456610"},"PeriodicalIF":2.4000,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11621208/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Human Neuroscience","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fnhum.2024.1456610","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
Fahr's disease (FD), otherwise known as primary familial brain calcification, is a rare neurodegenerative condition that involves intracerebral calcification at the level of the basal ganglia and other brain regions. It is an inherited neurologic disorder, although its molecular genetics have not been thoroughly defined. Patients usually present with a wide range of symptoms, predominantly movement disorders and cognitive changes. However, seizures are a rare initial presenting features of late-onset FD in adults. Herein, we present the case of a 60-year-old man with no known chronic illnesses who was admitted to a tertiary hospital after experiencing first-time generalized tonic-clonic seizures and loss of consciousness for two days. Basic laboratory results were within normal limits, and a non-contrast brain computed tomography (CT) scan showed intracerebral calcification. The patient was diagnosed with epilepsy secondary to FD based on its modified diagnostic criteria and responded well to antiepileptic treatment. The case highlights a rare association and emphasizes the importance of considering this diagnosis in patients experiencing an inaugural seizure; appropriate tests should be performed to confirm or rule out other relevant and secondary causes, and the treatment should be modified accordingly.
期刊介绍:
Frontiers in Human Neuroscience is a first-tier electronic journal devoted to understanding the brain mechanisms supporting cognitive and social behavior in humans, and how these mechanisms might be altered in disease states. The last 25 years have seen an explosive growth in both the methods and the theoretical constructs available to study the human brain. Advances in electrophysiological, neuroimaging, neuropsychological, psychophysical, neuropharmacological and computational approaches have provided key insights into the mechanisms of a broad range of human behaviors in both health and disease. Work in human neuroscience ranges from the cognitive domain, including areas such as memory, attention, language and perception to the social domain, with this last subject addressing topics, such as interpersonal interactions, social discourse and emotional regulation. How these processes unfold during development, mature in adulthood and often decline in aging, and how they are altered in a host of developmental, neurological and psychiatric disorders, has become increasingly amenable to human neuroscience research approaches. Work in human neuroscience has influenced many areas of inquiry ranging from social and cognitive psychology to economics, law and public policy. Accordingly, our journal will provide a forum for human research spanning all areas of human cognitive, social, developmental and translational neuroscience using any research approach.