威廉姆斯-贝伦综合征：资源有限环境下的诊断陷阱。
Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.
作者信息
Lumaka Aimé, Lukoo Rita, Mubungu Gerrye, Lumbala Paul, Mbayabo Gloire, Mupuala Aimée, Tshilobo Prosper Lukusa, Devriendt Koenraad
机构信息
Center for Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Leuven Belgium; Center for Human Genetics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo; Department of Pediatrics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo; Institut National de Recherche Biomedical Kinshasa Democratic Republic of the Congo.
Department of Pediatrics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo.
出版信息
Clin Case Rep. 2016 Feb 12;4(3):294-7. doi: 10.1002/ccr3.476. eCollection 2016 Mar.
Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.
威廉斯-贝伦综合征患者可通过其典型的畸形、智力残疾和行为在临床上得到识别。我们报告了一名具有典型威廉斯-贝伦综合征面部特征的刚果男孩。他在2岁时患了脑膜炎并陷入昏迷，随后出现了严重的智力残疾和非典型行为。该男孩直到8.2岁才被诊断出患有威廉斯-贝伦综合征，并通过荧光原位杂交（FISH）检测和微阵列比较基因组杂交（microarray-CGH）得到确诊。本报告旨在提醒临床医生，感染可能与遗传疾病相关联和/或改变遗传疾病，鉴于发展中国家传染病的流行情况，这种情况可能会出现。
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