Cornelia de Lange 综合征中自主神经病变的高发生率。
High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
机构信息
Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.
Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain.
出版信息
Orphanet J Rare Dis. 2021 Oct 30;16(1):458. doi: 10.1186/s13023-021-02082-y.
BACKGROUND
Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.
METHOD
Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained.
RESULTS
Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies.
CONCLUSIONS
Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.
背景
Cornelia de Lange 综合征（CdLS）是一种罕见的先天性疾病，其特征为典型的面部特征、生长发育迟缓、肢体异常和胃食管功能障碍，可能由几个基因的突变引起，这些突变会在发育早期破坏基因调控。CdLS 患者的症状表明周围神经系统（PNS）也受到了影响，但直接证据很少。
方法
通过常规运动和感觉神经传导研究评估躯体神经系统，通过心率变异性、交感皮肤反应和出汗测试评估自主神经系统。还获得了 CdLS 临床评分和基因研究结果。
结果
分别有 35%和 34%的 CdLS 患者的交感皮肤反应和出汗测试异常。然而，大纤维神经功能研究的正常值。
结论
许多 Cornelia de Lange 综合征患者存在自主神经系统（ANS）功能障碍，这可能与过早衰老有关。
Zotero 插件