兄弟姐妹胼胝体细胞毒性病变(CLOCC)一例报告。

IF 1.1 4区 医学 Q3 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Qihong Chen, Jinqi Huang, Jianfang Huang
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引用次数: 0

摘要

简介/背景:胼胝体细胞毒性病变(CLOCC)是一种罕见的临床放射学综合征,在兄弟姐妹中连续发生的病例非常罕见。本研究报告了两名患有CLOCC的儿科兄弟姐妹(其中一人经历了两次发作),强调了遗传易感性在其发病机制中的潜在作用。这些发现有助于弥补关于家族性CLOCC和复发病例的有限文献,为其病因和临床变异性提供见解。病例描述:兄弟二人(9岁和12岁)表现为突发性失语和单侧肢体无力,之前有轻微的呼吸道症状。磁共振成像(MRI)显示胼胝体脾脏和双侧额顶叶白质可逆病变,与CLOCC一致。两名患者均接受了免疫调节治疗(如皮质类固醇、静脉注射免疫球蛋白)和支持性护理,在几天内实现了神经系统的完全恢复。大哥两年后复发,影像学表现相似。实验室检查排除了常见感染,脑脊液分析也没有异常。结论:本病例强调CLOCC是一种异质性疾病,可能具有遗传易感性,其在兄弟姐妹中的发生证明了这一点。虽然预后良好,但复发和家族聚类表明需要进一步研究潜在的遗传或免疫机制。即使没有典型的生物标志物,临床医生也应考虑急性神经功能缺损和既往感染儿童的CLOCC。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cytotoxic Lesions of the Corpus Callosum (CLOCC) in Siblings: A Case Report.

Introduction/background: Cytotoxic lesions of the corpus callosum (CLOCC) are a rare clinical-radiological syndrome, and cases occurring consecutively in siblings are exceptionally uncommon. This study reports two pediatric siblings with CLOCC (one experiencing two episodes), highlighting the potential role of genetic susceptibility in its pathogenesis. The findings contribute to the limited literature on familial CLOCC and recurrent cases, offering insights into its etiology and clinical variability.

Case presentation: Two brothers (aged 9 and 12) presented with sudden-onset aphasia and unilateral limb weakness, preceded by mild respiratory symptoms. Magnetic resonance imaging (MRI) revealed reversible lesions in the splenium of the corpus callosum and bilateral frontoparietal white matter, consistent with CLOCC. Both patients received immunomodulatory therapy (e.g., corticosteroids, intravenous immunoglobulin) and supportive care, achieving full neurological recovery within days. The elder sibling had a recurrence two years later with similar imaging findings. Laboratory tests ruled out common infections, and cerebrospinal fluid analysis was unremarkable.

Conclusion: This case underscores CLOCC as a heterogeneous condition with possible genetic predisposition, as evidenced by its occurrence in siblings. While prognosis is generally favorable, recurrence and familial clustering suggest the need for further research into underlying genetic or immunological mechanisms. Clinicians should consider CLOCC in children with acute neurological deficits and prior infections, even in the absence of typical biomarkers.

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来源期刊
CiteScore
2.60
自引率
0.00%
发文量
246
审稿时长
1 months
期刊介绍: Current Medical Imaging Reviews publishes frontier review articles, original research articles, drug clinical trial studies and guest edited thematic issues on all the latest advances on medical imaging dedicated to clinical research. All relevant areas are covered by the journal, including advances in the diagnosis, instrumentation and therapeutic applications related to all modern medical imaging techniques. The journal is essential reading for all clinicians and researchers involved in medical imaging and diagnosis.
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