Shao Elichilia R, Kiyegi Lucas F, Mwasamwaja Amos O, Kilonzo Kajiru, Hamel Ben C J
Department of Internal Medicine, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.
Department of Internal Medicine, Kilimanjaro Christian Medical University College, Tumaini University Makumira, P.O. Box 2240, Moshi, Tanzania.
Case Rep Genet. 2017;2017:2348045. doi: 10.1155/2017/2348045. Epub 2017 Apr 9.
Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.
肥胖、轻度智力障碍、肌张力减退、吸吮无力、男性隐睾、性腺功能减退和脊柱侧弯是普拉德-威利综合征（PWS）的常见特征。我们报告了一例因极度肥胖和脊柱侧弯导致严重呼吸并发症的病例，这是发病和死亡的重要原因，并讨论了治疗方法。此外，这是撒哈拉以南非洲地区除南非外首例经分子确诊的PWS病例。
