{"title":"出现全身强直-阵挛性发作的家族性舞蹈症-棘细胞增多症的免疫学:用于早期诊断和治疗的血细胞研究","authors":"Amineh Salem, Narges Omidvar","doi":"10.1016/j.cellimm.2025.104946","DOIUrl":null,"url":null,"abstract":"<div><div>A male, who involved familial chorea-acanthocytosis (ChAc), was introduced to provide direction for early diagnosis and management. The admitted patient was found to have the significant episode with generalized tonic-clonic seizure, gradually progressive abnormal movements, and generalized weakness. According to the peripheral blood smears, the acanthocytosis was diagnosed primarily. The neuroimaging observation revealed atrophied head of caudate nuclei and dilation of anterior horn in the lateral ventricles. For the early diagnosis and prevention of syndrome complications, neuroacanthocytosis should be considered in the differential diagnosis of patients presenting with generalized tonic-clonic seizure, peripheral neuropathy, and behavioral disorder associated with movement complications.</div></div>","PeriodicalId":9795,"journal":{"name":"Cellular immunology","volume":"411 ","pages":"Article 104946"},"PeriodicalIF":2.9000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management\",\"authors\":\"Amineh Salem, Narges Omidvar\",\"doi\":\"10.1016/j.cellimm.2025.104946\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>A male, who involved familial chorea-acanthocytosis (ChAc), was introduced to provide direction for early diagnosis and management. The admitted patient was found to have the significant episode with generalized tonic-clonic seizure, gradually progressive abnormal movements, and generalized weakness. According to the peripheral blood smears, the acanthocytosis was diagnosed primarily. The neuroimaging observation revealed atrophied head of caudate nuclei and dilation of anterior horn in the lateral ventricles. For the early diagnosis and prevention of syndrome complications, neuroacanthocytosis should be considered in the differential diagnosis of patients presenting with generalized tonic-clonic seizure, peripheral neuropathy, and behavioral disorder associated with movement complications.</div></div>\",\"PeriodicalId\":9795,\"journal\":{\"name\":\"Cellular immunology\",\"volume\":\"411 \",\"pages\":\"Article 104946\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cellular immunology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0008874925000310\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cellular immunology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0008874925000310","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management
A male, who involved familial chorea-acanthocytosis (ChAc), was introduced to provide direction for early diagnosis and management. The admitted patient was found to have the significant episode with generalized tonic-clonic seizure, gradually progressive abnormal movements, and generalized weakness. According to the peripheral blood smears, the acanthocytosis was diagnosed primarily. The neuroimaging observation revealed atrophied head of caudate nuclei and dilation of anterior horn in the lateral ventricles. For the early diagnosis and prevention of syndrome complications, neuroacanthocytosis should be considered in the differential diagnosis of patients presenting with generalized tonic-clonic seizure, peripheral neuropathy, and behavioral disorder associated with movement complications.
期刊介绍:
Cellular Immunology publishes original investigations concerned with the immunological activities of cells in experimental or clinical situations. The scope of the journal encompasses the broad area of in vitro and in vivo studies of cellular immune responses. Purely clinical descriptive studies are not considered.
Research Areas include:
• Antigen receptor sites
• Autoimmunity
• Delayed-type hypersensitivity or cellular immunity
• Immunologic deficiency states and their reconstitution
• Immunologic surveillance and tumor immunity
• Immunomodulation
• Immunotherapy
• Lymphokines and cytokines
• Nonantibody immunity
• Parasite immunology
• Resistance to intracellular microbial and viral infection
• Thymus and lymphocyte immunobiology
• Transplantation immunology
• Tumor immunity.