兄弟姐妹Angelman综合征的临床研究

Uliyana S. Suraeva, Olga M. Matyasova, Anna V. Monakhova, Alla Yu. Shutkova, E. Tush, E. E. Yatsyshina, Marina A. Suslova, O. Khaletskaya
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摘要

背景。天使人综合征(Angelman syndrome, AS)是一种罕见的遗传性疾病,主要表现为严重的智力迟钝、发育性语言迟缓、面部畸形、运动、行为和睡眠障碍、癫痫发作等。病理学是指基因组印记疾病。Angelman综合征的病理发生机制可能有四种:母源15号染色体15q11.2-q13缺失、母源15号染色体15q11.2位点泛素连接酶(UBE3A)基因突变、父源15q11.2-q13区域单亲二体、印迹中心缺陷。临床病例描述。本文介绍了下诺夫哥罗德儿童城市第一临床医院观察到的两个双胞胎兄弟(男孩E.,女孩V.)的Angelman综合征的临床情况。双绒毛膜-双羊膜双胞胎连续妊娠的儿童;30周早产。由于怀孕期间的流产威胁和分娩时两个孩子的窒息,有沉重的产科生物学和围产期病史。该疾病在两例患者中都有典型的病程:静态功能发育迟缓,言语和智力发育迟缓,行为和运动障碍(刻板印象,震颤,共济失调,无动机的笑声发作,睡眠障碍),存在典型的面部畸形。分子遗传学研究证实了这一诊断(UBE3A基因外显子7突变为男孩,UBE3A基因外显子6和7突变为女孩)。本文介绍了两例患者的癫痫发作治疗特点。本病例为分子遗传学研究证实的两兄妹典型的AS临床表现。这种综合征的治疗非常复杂。所描述的患者需要持续的抗惊厥药物治疗,神经学家,心理治疗师的观察,语言病理学家的工作。完全纠正这种综合症是不可能的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Angelman syndrome in two siblings: clinical case
Background. Angelman syndrome (AS) is rare genetic disease characterized by severe mental retardation, gross developmental speech delay, facial dysmorphia, disorders of motor activity, behavior and sleep, epileptic seizures manifestation. Pathology refers to diseases of genomic imprinting. There are four possible mechanisms of pathology development in Angelman syndrome: 15q11.2-q13 deletion on the chromosome 15 of maternal origin, mutation of the ubiquitin ligase (UBE3A) gene at the 15q11.2 locus on the chromosome 15 of maternal origin, uniparental disomy of the 15q11.2-q13 region of paternal origin, imprinting center defect.Clinical case description. Clinical picture of Angelman syndrome in two twin sibs (boy E., girl V.) observed in Children’s City Clinical Hospital № 1 in Nizhny Novgorod is presented. Children from consecutive pregnancy with dichorionic-diamniotic twins; preterm birth at 30 weeks. There was burdened obstetric-biological and perinatal history due to the threatened miscarriage during this pregnancy and due to asphyxia of both children during delivery. The disease has classical course in both patients: static functions development delay, gross developmental speech and intellectual delay, behavioral and motor disorders (stereotypy, tremor, ataxia, episodes of unmotivated laughter, sleep disorders), presence of typical facial dysmorphia. This diagnosis was confirmed by the molecular genetic study (boy — mutation in exon 7 of the UBE3A gene, girl — mutations in exons 6 and 7 of the UBE3A gene). Features of epileptic seizure therapy in both patients are presented.Conclusion. The presented clinical case demonstrates typical clinical picture of AS in two sibs confirmed by molecular genetic study. The therapy of this syndrome is very complicated. The described patients require constant anticonvulsant therapy, observation of neurologist, psychotherapist, working with speech pathologist. Complete correction of this syndrome is impossible. 
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