Takeguchi Ryo, Takahashi Satoru, Akaba Yuichi, Tanaka Ryosuke, Nabatame Shin, Kurosawa Kenji, Matsuishi Toyojiro, Itoh Masayuki
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
J Neurol Sci. 2021 Mar 15;422:117321. doi: 10.1016/j.jns.2021.117321. Epub 2021 Jan 19.
This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical clues for the early diagnosis of this condition. We conducted a nationwide survey for MDS by sending questionnaires to 575 hospitals where board-certified pediatric neurologists were working and 195 residential hospitals for persons with severe motor and intellectual disabilities in Japan. This survey found 65 cases of MDS, and clinical data of 24 cases in which the diagnosis was genetically confirmed were analyzed. More than half of the patients (52%) had visited a hospital at least once during infancy due to symptoms associated with MDS, with a median age at the initial visit of 7 months. The symptoms that were frequently prevalent at the first visit were facial dysmorphic features, hypotonia, motor developmental delay, and recurrent infections. Dysmorphic features included small mouth, tented upper lip, tapered fingers, and hypertelorism. Other symptoms, including epilepsy, intellectual disabilities, autistic features, stereotypic movements, and gastrointestinal problems, generally appeared later with age. Some symptoms of MDS were found to be age-dependent and may not be noticeable in infancy. Recognition of these clinical characteristics may facilitate the early diagnosis and proper treatment of patients with MDS, improve their long-term outcomes, and help adapt appropriate genetic counseling.
本研究旨在阐明MECP2重复综合征（MDS）的临床特征，尤其是初始表现时的特征，并为该疾病的早期诊断提供临床线索。我们通过向日本575家有获得董事会认证的儿科神经科医生工作的医院以及195家收治重度运动和智力残疾患者的住院医院发送问卷，对MDS进行了全国性调查。该调查发现了65例MDS病例，并对其中24例经基因确诊的病例的临床数据进行了分析。超过半数的患者（52%）在婴儿期因与MDS相关的症状至少就诊过一次，首次就诊的中位年龄为7个月。首次就诊时常见的症状有面部畸形特征、肌张力减退、运动发育迟缓及反复感染。畸形特征包括小嘴、上唇呈帐篷状、手指变细及眼距增宽。其他症状，如癫痫、智力残疾、自闭症特征、刻板动作及胃肠道问题，一般随年龄增长而出现。发现MDS的一些症状与年龄相关，在婴儿期可能不明显。认识这些临床特征可能有助于MDS患者的早期诊断和恰当治疗，改善其长期预后，并有助于进行适当的遗传咨询。
