Shiah C J, Lee L S, Hwang J Y, Liao S T, Hsu C H, Lin W Y
Department of Internal Medicine, Taipei Municipal Jen-Ai Hospital, Taiwan R.O.C.
J Formos Med Assoc. 1994 Apr;93(4):324-7.
We report a classical case of Prader-Willi syndrome (PWS) in an adult with typical interstitial deletion of chromosome 15, and emphasize the study of hormonal change. This 21-year-old female had PWS face characteristics, small hands and feet, marked obesity, mental retardation, growth retardation, absence of puberty and amenorrhea. She also had the characteristic history of infantile hypotonia, poor feeding, failure to thrive and then improved appetite, followed by obesity from the age of four years. She had compulsive hyperphagia, to the extent of stealing and lying to take food. Chromosome study with high resolution banding technique revealed a small interstitial deletion at band q12 of chromosome 15, which is characteristically found in a majority of patients with PWS. Hormonal study revealed hypogonadism and growth hormone deficiency of supposed hypothalamic origin. She also had non-insulin-dependent diabetes mellitus with decreased pancreatic insulin reserve.
我们报告了一例典型的普拉德-威利综合征（PWS）成年患者，其15号染色体存在典型的间质缺失，并强调了对激素变化的研究。这名21岁女性具有PWS的面部特征、小手小脚、明显肥胖、智力迟钝、生长发育迟缓、青春期缺失和闭经。她还具有婴儿期肌张力低下、喂养困难、生长发育不良，随后食欲改善，四岁起出现肥胖的典型病史。她有强迫性贪食，甚至发展到偷窃和说谎以获取食物的程度。采用高分辨率显带技术进行染色体研究发现，15号染色体q12带存在一个小的间质缺失，这在大多数PWS患者中具有特征性。激素研究显示性腺功能减退和推测起源于下丘脑的生长激素缺乏。她还患有非胰岛素依赖型糖尿病，胰腺胰岛素储备减少。
