PDF(Pubmed)
Abstract：
BACKGROUND: Prader-Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader-Willi syndrome-critical region on chromosome 15 (15q11.2-q13). The main clinical features are hyperphagia (which frequently results in early-onset obesity), hypogonadism, developmental delays, typical behaviors (such as obsessive-compulsive tendencies, tantrums, perseveration, insistence on sameness, and rigidity), and distinctive facial features. In infants, the most prominent findings are hypotonia and feeding difficulties.
METHODS: This paper highlights a case of a 14 year old male patient of an Ethiopian ethnicity with diagnosis of Prader-Willi syndrome, which is first report in Ethiopia. He presented with progressive excessive weight gain, insatiable appetite, clinical and laboratory features of hypogonadism, ophthalmological refractory error, and facial features of Prader-Willi syndrome, which was further confirmed by genetic analysis. He is currently on lifestyle intervention, testosterone replacement, and treatment for vitamin D deficiency.
CONCLUSIONS: Prader-Willi syndrome should be considered in a child who presents with progressive weight gain and other typical clinical features such as cognitive impairment, excessive insatiable eating, or hypothalamic hypogonadism. Early lifestyle intervention may help to reduce excessive weight gain. To our knowledge, this is the first case reported in Ethiopia.
METHODS: This paper highlights a case of a 14 year old male patient of an Ethiopian ethnicity with diagnosis of Prader-Willi syndrome, which is first report in Ethiopia. He presented with progressive excessive weight gain, insatiable appetite, clinical and laboratory features of hypogonadism, ophthalmological refractory error, and facial features of Prader-Willi syndrome, which was further confirmed by genetic analysis. He is currently on lifestyle intervention, testosterone replacement, and treatment for vitamin D deficiency.
CONCLUSIONS: Prader-Willi syndrome should be considered in a child who presents with progressive weight gain and other typical clinical features such as cognitive impairment, excessive insatiable eating, or hypothalamic hypogonadism. Early lifestyle intervention may help to reduce excessive weight gain. To our knowledge, this is the first case reported in Ethiopia.
摘要：
背景：Prader-Willi综合征是一种复杂的多系统疾病，原因是在染色体15（15q11.2-q13）的Prader-Willi综合征关键区域中缺乏父系活性基因的表达。主要的临床特征是饮食过多（经常导致早发性肥胖），性腺功能减退,发育迟缓,典型的行为(如强迫倾向，发脾气,坚持,坚持相同，和刚性），和独特的面部特征。在婴儿中,最突出的发现是肌张力减退和进食困难。
方法：本文重点介绍了一例埃塞俄比亚种族的14岁男性患者，诊断为Prader-Willi综合征，这是埃塞俄比亚的第一份报告。他表现出体重逐渐过度增加，贪得无厌的食欲，性腺机能减退的临床和实验室特征，眼科难治性错误，和普拉德-威利综合征的面部特征，遗传分析进一步证实了这一点。他目前正在接受生活方式干预，睾酮替代，和治疗维生素D缺乏症。
结论：Prader-Willi综合征应在出现进行性体重增加和其他典型临床特征如认知障碍的儿童中考虑。过度贪吃，或下丘脑性腺功能减退.早期的生活方式干预可能有助于减少体重的过度增加。据我们所知,这是埃塞俄比亚报告的第一例病例。
方法：本文重点介绍了一例埃塞俄比亚种族的14岁男性患者，诊断为Prader-Willi综合征，这是埃塞俄比亚的第一份报告。他表现出体重逐渐过度增加，贪得无厌的食欲，性腺机能减退的临床和实验室特征，眼科难治性错误，和普拉德-威利综合征的面部特征，遗传分析进一步证实了这一点。他目前正在接受生活方式干预，睾酮替代，和治疗维生素D缺乏症。
结论：Prader-Willi综合征应在出现进行性体重增加和其他典型临床特征如认知障碍的儿童中考虑。过度贪吃，或下丘脑性腺功能减退.早期的生活方式干预可能有助于减少体重的过度增加。据我们所知,这是埃塞俄比亚报告的第一例病例。
