Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management

IF 2.9 4区 医学 Q2 CELL BIOLOGY Cellular immunology Pub Date : 2025-05-01 Epub Date: 2025-04-01 DOI:10.1016/j.cellimm.2025.104946
Amineh Salem, Narges Omidvar
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Abstract

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.

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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
本文介绍1例男性家族性舞蹈病-棘细胞增多症(ChAc),为早期诊断和治疗提供指导。入院患者被发现有明显的全身性强直-阵挛发作,逐渐进行性异常运动和全身性虚弱。根据外周血涂片初步诊断为棘细胞增多症。神经影像学观察显示尾状核头萎缩,侧脑室前角扩张。对于全身性强直-阵挛性发作、周围神经病变和伴有运动并发症的行为障碍患者,在鉴别诊断时应考虑神经棘细胞增多症,以便早期诊断和预防综合征并发症。
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来源期刊
Cellular immunology
Cellular immunology 生物-免疫学
CiteScore
8.20
自引率
2.30%
发文量
102
审稿时长
30 days
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.
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