Department of Neuropediatrics, Brest University Hospital, Brest, France.
Department of Genetics, Brest University Hospital, Brest, France.
Pediatr Neurol. 2022 Sep;134:31-36. doi: 10.1016/j.pediatrneurol.2022.06.001. Epub 2022 Jun 9.
Recognizing and identifying dysautonomia would facilitate the diagnosis and management of MECP2 mutations in boys. We aimed to explore the prevalence of dysautonomia symptoms in boys with MECP2 mutations.
We conducted a national, retrospective study (2000-2020) of medical records from boys who were aged less than 18 years when diagnosed with a pathogenic, or likely pathogenic, variant in the MECP2 gene. We systematically looked for dysautonomic signs in the cardiovascular, respiratory, gastrointestinal, and thermoregulatory systems.
Nine of the 13 cases had at least one system affected by dysautonomia. Two patient subgroups were identified: (1) patients who were ambulatory with intellectual or learning disabilities (n = 6/13 cases) and (2) patients who were unable to walk normally with severe encephalopathy (n = 7/13 cases). Dysautonomic signs were found in both subgroups: 7 of seven patients in the severe array subgroup and 2 of six in the mild array subgroup.
These results support MECP2 testing and dysautonomia investigations in both young males who present with encephalopathy and those with intellectual disabilities.
识别和诊断自主神经功能障碍将有助于诊断和管理男性 MECP2 突变。我们旨在探讨男性 MECP2 突变患者自主神经功能障碍症状的患病率。
我们进行了一项全国性的回顾性研究（2000-2020 年），研究对象为在 18 岁以下被诊断为 MECP2 基因致病性或可能致病性变异的男孩的病历。我们系统地观察了心血管、呼吸、胃肠道和体温调节系统中的自主神经功能障碍迹象。
在 13 例患者中，有 9 例至少有一个系统受到自主神经功能障碍的影响。确定了两个患者亚组：（1）有智力或学习障碍的可走动患者（n=13 例中的 6 例）和（2）无法正常行走且伴有严重脑病的患者（n=13 例中的 7 例）。在两个亚组中均发现了自主神经功能障碍的迹象：严重组的 7 例中有 7 例，轻度组的 6 例中有 2 例。
这些结果支持对出现脑病和智力障碍的年轻男性进行 MECP2 检测和自主神经功能障碍检查。
