Sylos Cristina de, Pereira Alexandre C, Azeka Estela, Miura Nana, Mesquita Sônia Maria Ferreira, Ebaid Munir
Instituto do Carcao do Hospital das Clinical, Sao Paulo, Brazil. crsylos@netpoint .com.br
Arq Bras Cardiol. 2002 Aug;79(2):173-80. doi: 10.1590/s0066-782x2002001100009.
We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.
我们报告了一例7岁男性儿童,被诊断为威廉姆斯-贝伦综合征且患有临床治疗难治的动脉高血压。基因研究证实了该诊断。还诊断出降主动脉狭窄和肾动脉狭窄。威廉姆斯-贝伦综合征患者由于弹性蛋白基因缺失引起的全身血管改变可能在早期出现,导致药物治疗难治的系统性动脉高血压的临床表现。