3例MECP2重复综合征临床分析和文献复习

MECP2 duplication syndrome: a clinical analysis of three cases and literature review

摘要:

MECP2重复综合征（MDS）是儿科少见病，主要表现为运动发育落后、语言缺失或落后、反复感染、严重智力障碍、癫癎、孤独症样表现及婴儿早期肌张力低下等。该文3例患儿均为男孩，病例1、2首发表现为运动发育落后、语言缺失或落后，病例3首发表现为反复感染，查体均有肌张力均低下、病理征均阴性。病例1有全身强直-阵挛发作，脑电图示局灶性发作，予奥卡西平、左乙拉西坦、氯硝基安定联合抗癫癎治疗，癫癎发作控制。病例3出现过失神发作1次及点头发作3次，发作间期多次脑电图正常，未予抗癫癎治疗。3例患儿的反复感染随年龄增长得到改善，语言及智力改善不明显。微阵列比较基因组杂交技术（aCGH）检测发现3例患儿的X染色体存在MECP2基因重复，确诊为MDS。对于发育落后伴反复感染、癫癎发作的患儿，应考虑到MDS可能，早期行aCGH检测有助于诊断。

Abstract:

MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation. Physical examination showed hypotonia and negative pathological signs in each case. Case 1 had tonic-clonic seizures and electroencephalography showed focal seizures, for which he was given oxcarbazepine, levetiracetam, and clonazepam as the antiepileptic treatment to control seizures. Case 3 experienced one absence seizure and three head-nodding seizures with normal electroencephalographic findings during these seizures, and therefore, he was not given antiepileptic treatment. In each case, recurrent infection was improved with the increase in age, but there were no significant improvements in language or intelligence. Array-based comparative genomic hybridization (aCGH) showed MECP2 duplication in X chromosome in each case, and so they were diagnosed with MDS. MDS should be considered for children with delayed development complicated by recurrent infection and epileptic seizures, and early aCGH helps with the diagnosis of this disease.