Zamani Hassan, Babazadeh Kazem, Fattahi Saeid, Mokhtari-Esbuie Farzad
Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Mazandaran, Iran.
Case Rep Med. 2012;2012:585726. doi: 10.1155/2012/585726. Epub 2012 Aug 13.
Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.
威廉姆斯-博伦综合征是一种罕见的家族性多系统疾病，发病率为每20000例活产中有1例。其特征包括先天性心脏缺陷（CHD）、骨骼和肾脏异常、认知障碍、社交人格障碍及面容畸形。我们报告一例因心脏杂音和认知问题前来就诊的威廉姆斯综合征病例。一名5岁女孩因心脏杂音被转诊至儿科心脏病专家处。她在胸骨右上缘有收缩期杂音（2 - 3/6级），并向右侧颈部传导。她还前额突出。血管造影显示轻度主动脉瓣上狭窄和轻度多发性外周肺动脉狭窄。进行了荧光原位杂交（FISH）检测，结果为：46,XX，ish del(7q11.2)(ELN X1)(7q22 X2)，ELN缺失，符合威廉姆斯综合征。外周肺动脉狭窄与努南综合征、阿拉吉列综合征、皮肤松弛症、埃勒斯-当洛综合征和西尔弗-拉塞尔综合征相关。该患者有外周肺动脉狭窄，但无这些综合征的其他体征，且她还有主动脉瓣上狭窄，这在除威廉姆斯综合征外的其他综合征中未见。结论。根据主要症状、辅助检查及临床发现，如面容畸形、认知障碍和先天性心脏缺陷，威廉姆斯综合征为首要诊断。我们建议在儿童期更关注对心脏杂音的评估，尤其是当患者有面部特征异常或精神问题时。
