Current Advances in Neurology and Neurological Disorders最新文献

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Epilepsy Revealing Fahr's Disease Associated with Hyperparathyroidism 癫痫揭示Fahr病与甲状旁腺功能亢进

Current Advances in Neurology and Neurological Disorders Pub Date : 2019-02-12 DOI: 10.29199/cann.201023

S. Bouomrani, M. Guermazi, Nesrine Regaïeg, S. Yahyaoui

{"title":"Epilepsy Revealing Fahr's Disease Associated with Hyperparathyroidism","authors":"S. Bouomrani, M. Guermazi, Nesrine Regaïeg, S. Yahyaoui","doi":"10.29199/cann.201023","DOIUrl":"https://doi.org/10.29199/cann.201023","url":null,"abstract":"Introduction: Fahr's disease (FD) is a rare anatomo-clinical en-tity, characterized by the presence of intracerebral calcifications of the basal ganglia, most often associated with phosphocalcic disorders, mainly hypoparathyroidism. Seizures are rare in this disease. We report the case of FD revealed by recurrent convul-sive seizures taken medication for epilepsy for several years. Case report: 26-year-old man followed since the age of 16 for recurrent generalized tonic-clonic seizures. Initial investigations were without abnormalities leading to the diagnosis of epilepsy. The patient was treated with sodium valproate with partial sta-bilization. Since a year, the patient reported an increase in the frequency of epileptic seizures despite the strengthening of antiepileptic treatment. Cerebral CT scan showed the presence of multiple intracerebral calcifications with bilateral and symmetrical distri-bution, particularly in the central gray nuclei consistent with the diagnosis of FD. Biological analysis showed hypercalcemia at 2.70 mmol/l, hypophosphatemia at 0.4 mmol/l, and the parathyroid hormone was increased to 172 ng/l confirming the diagnosis of associated primary hyperparathyroidism. Cervical ultrasound revealed an upper left parathyroid nodule. After surgery of his adenoma, the subsequent evolution was marked by a net regression of the frequencies and the intensity of the seizures. Doses of valproic acid were significantly reduced. Conclusion: Epilepsy remains a rare and unusual manifestation of FD. It can exceptionally be the inaugural symptom of the disease. FD deserves to be known and screened for when the cause of seizure or epilepsy cannot be proven, especially since it is often associated with parathyroid disorders whose timely treatment can avoid secondary sometimes serious complications.","PeriodicalId":140971,"journal":{"name":"Current Advances in Neurology and Neurological Disorders","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128521566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Common and Unusual Presentations of SUCLA2 Gene Mutations require thorough Diagnostic Work-up 常见和不常见的sucl2基因突变需要彻底的诊断检查

Current Advances in Neurology and Neurological Disorders Pub Date : 2018-09-20 DOI: 10.29199/2637-6997/cann-103022

osef Finsterer, S. Zarrouk-Mahjoub

引用次数: 0

Recurrent Aseptic Basal Meningitis as the First Clinical Manifestation of a Sjogren Syndrome in a Patient with an Overlap Syndrome with Familial Mediterranean Fever 复发性无菌性基底膜炎是干燥综合征患者与家族性地中海热重叠综合征的第一个临床表现

Current Advances in Neurology and Neurological Disorders Pub Date : 2018-08-01 DOI: 10.29199/2637-6997/cann-102021

M. Deb-Chatterji, F. Donnerstag, E. Voss

{"title":"Recurrent Aseptic Basal Meningitis as the First Clinical Manifestation of a Sjogren Syndrome in a Patient with an Overlap Syndrome with Familial Mediterranean Fever","authors":"M. Deb-Chatterji, F. Donnerstag, E. Voss","doi":"10.29199/2637-6997/cann-102021","DOIUrl":"https://doi.org/10.29199/2637-6997/cann-102021","url":null,"abstract":"Objective: In patients suffering from Sjogren Syndrome (SjS) central nervous system involvement, such as aseptic meningitis, commonly occurs. MRI scans of the brain usually show T2-hy-perintensities and/or contrast-enhanced lesions. However, aseptic meningitis may also occur in patients with Familial Mediterranean Fever (FMF). Typical clinical symptoms are recurrent attacks of fever and polyserositis. Of note, in patients with FMF the symptoms usually disappear during a colchicine therapy. Here, we present a patient for the first time with an overlap syndrome of SjS and FMF suffering from recurrent aseptic meningitis which precedes the diagnosis of SjS and shows imaging signs of a basal meningitis. Case: A female patient suffered from biopsy-proven SjS and genetically diagnosed FMF. Over two years she presented with recurrent attacks of aseptic meningitis, while lacking symptoms of polyserositis indicating FMF not being causative. These attacks preceded the diagnosis of SjS. Cranial MRI revealed basal contrast enhancement of the cerebellum. Meningitis persisted during colchicine therapy but terminated after initiating immunosuppressive treatment. Conclusion: Recurrent aseptic meningitis may occur as the first clinical manifestation of SjS. In a basal and aseptic meningitis SjS should be considered in the differential diagnosis.","PeriodicalId":140971,"journal":{"name":"Current Advances in Neurology and Neurological Disorders","volume":"206 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132093658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1