Cote-Orozco Juan E, Mera-Solarte Paola Del Rocío, Espinosa-García Eugenia
Universidad Militar Nueva Granada, Bogotá, Colombia.
Servicio de Neurología Pediátrica, Hospital Militar Central, Bogotá, Colombia.
Arch Argent Pediatr. 2017 Apr 1;115(2):e99-e103. doi: 10.5546/aap.2017.e99.
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life. We review the diagnosis and long-term clinical care of patients with Angelman syndrome.
天使综合征是一种神经遗传性疾病，由位于15号染色体上的UBE3A表达缺失或减少引起，该基因编码泛素蛋白连接酶E3A，其在突触发育和神经可塑性中起关键作用。其主要特征为发育迟缓/智力残疾、言语缺失、特征性行为表现和癫痫。我们描述了7例15q11 - 13缺失患者的临床特征及管理。鉴于其预期寿命，了解并管理其合并症对于提高他们的生活质量至关重要。我们回顾了天使综合征患者的诊断及长期临床护理情况。
