{"title":"CACNA1A变体导致的癫痫性脑病,一例病例报告和资源有限环境下的诊断难题。","authors":"Hilary Chipongo, Samina Chaki, Ronald Mclarty","doi":"10.1159/000540799","DOIUrl":null,"url":null,"abstract":"Introduction\nEpilepsy is one of the most common neurological disorders present in sub-Saharan Africa and most of these cases are underdiagnosed due to a lack of resources. Epileptic encephalopathies are a broad spectrum of seizure disorders characterized by epileptic activity itself impairing cognitive and behavioral function more than what is expected from the underlying pathology alone. Epileptic encephalopathy resulting from CACNA1A variant is extremely challenging to treat and prognosis is poor if prompt diagnosis is not made.\nCase presentation\nThis is a 7-year-old male patient of African descent with a history of recurrent seizures since infancy. He has been kept on several anticonvulsants without success to control seizure attacks. Having more than three attacks in a single month despite being on anticonvulsants. EEG (electro-encephalography) was done and genetic studies showed a diagnosis consistent with CACNA1A variant-associated epileptic encephalopathy. Anticonvulsants were revised and a combination of new medications as suggested by current guidelines was initiated and the patient is followed up closely on monthly basis.\nConclusion\nEven though it is challenging to treat epileptic encephalopathies especially, one associated with CACNA1A variant all patients initiated with antiepileptic therapy should be followed closely and monitored for control of seizure attacks. Appropriate investigation should be considered if EEG alone does not point out the pathology, such as genetic studies.Early diagnosis is crucial for prognosis of such kind of cases especially in resource-limited settings were diagnostic equipments are scarce. All clinicians in these areas should have high suspicion index in pediatric patients with recurrent seizure attacks to rule epileptic encephalopathies.\n\n\n","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.6000,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Epileptic encephalopathy due to CACNA1A variant, a case report and diagnostic challenges from resource-limited settings.\",\"authors\":\"Hilary Chipongo, Samina Chaki, Ronald Mclarty\",\"doi\":\"10.1159/000540799\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction\\nEpilepsy is one of the most common neurological disorders present in sub-Saharan Africa and most of these cases are underdiagnosed due to a lack of resources. Epileptic encephalopathies are a broad spectrum of seizure disorders characterized by epileptic activity itself impairing cognitive and behavioral function more than what is expected from the underlying pathology alone. Epileptic encephalopathy resulting from CACNA1A variant is extremely challenging to treat and prognosis is poor if prompt diagnosis is not made.\\nCase presentation\\nThis is a 7-year-old male patient of African descent with a history of recurrent seizures since infancy. He has been kept on several anticonvulsants without success to control seizure attacks. Having more than three attacks in a single month despite being on anticonvulsants. EEG (electro-encephalography) was done and genetic studies showed a diagnosis consistent with CACNA1A variant-associated epileptic encephalopathy. Anticonvulsants were revised and a combination of new medications as suggested by current guidelines was initiated and the patient is followed up closely on monthly basis.\\nConclusion\\nEven though it is challenging to treat epileptic encephalopathies especially, one associated with CACNA1A variant all patients initiated with antiepileptic therapy should be followed closely and monitored for control of seizure attacks. Appropriate investigation should be considered if EEG alone does not point out the pathology, such as genetic studies.Early diagnosis is crucial for prognosis of such kind of cases especially in resource-limited settings were diagnostic equipments are scarce. All clinicians in these areas should have high suspicion index in pediatric patients with recurrent seizure attacks to rule epileptic encephalopathies.\\n\\n\\n\",\"PeriodicalId\":9639,\"journal\":{\"name\":\"Case Reports in Neurology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-08-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000540799\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000540799","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Epileptic encephalopathy due to CACNA1A variant, a case report and diagnostic challenges from resource-limited settings.
Introduction
Epilepsy is one of the most common neurological disorders present in sub-Saharan Africa and most of these cases are underdiagnosed due to a lack of resources. Epileptic encephalopathies are a broad spectrum of seizure disorders characterized by epileptic activity itself impairing cognitive and behavioral function more than what is expected from the underlying pathology alone. Epileptic encephalopathy resulting from CACNA1A variant is extremely challenging to treat and prognosis is poor if prompt diagnosis is not made.
Case presentation
This is a 7-year-old male patient of African descent with a history of recurrent seizures since infancy. He has been kept on several anticonvulsants without success to control seizure attacks. Having more than three attacks in a single month despite being on anticonvulsants. EEG (electro-encephalography) was done and genetic studies showed a diagnosis consistent with CACNA1A variant-associated epileptic encephalopathy. Anticonvulsants were revised and a combination of new medications as suggested by current guidelines was initiated and the patient is followed up closely on monthly basis.
Conclusion
Even though it is challenging to treat epileptic encephalopathies especially, one associated with CACNA1A variant all patients initiated with antiepileptic therapy should be followed closely and monitored for control of seizure attacks. Appropriate investigation should be considered if EEG alone does not point out the pathology, such as genetic studies.Early diagnosis is crucial for prognosis of such kind of cases especially in resource-limited settings were diagnostic equipments are scarce. All clinicians in these areas should have high suspicion index in pediatric patients with recurrent seizure attacks to rule epileptic encephalopathies.
期刊介绍:
This new peer-reviewed online-only journal publishes original case reports covering the entire spectrum of neurology. Clinicians and researchers are given a tool to disseminate their personal experience to a wider public as well as to review interesting cases encountered by colleagues all over the world. To complement the contributions supplementary material is welcomed. The reports are searchable according to the key words supplied by the authors; it will thus be possible to search across the entire growing collection of case reports with universally used terms, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.