论文部分内容阅读
目的通过报道少见的儿童Prader-Willi综合征病例,引起同行对该病的认识和重视。方法对儿童Prader-Willi综合征病例进行回顾性分析并文献复习。结果经过临床物理检查及仪器辅助检查,确诊该病儿为Prader-Willi综合征患者。结论本病临床少见,遇到有随年龄的不同而有所改变的如下特征:(1)新生儿期表现为多睡少动,难以被唤醒,吸吮及吞咽能力差,体重增长慢;(2)小婴儿及幼儿期较突出表现是肌张力低下、四肢松软无力,智力、体格生长发育迟缓,;(3)6岁以下儿童运动、认知和语言发育延迟、智力低下;(4)生长激素的缺乏,成人患者身材短小;(5)面部及躯体有头长、前额径短、杏仁眼、嘴小、下颌小、手足小特征性表现;(6)性腺发育不良,男性表现不完全,女性病人月经初潮延迟,第二性征发育不完全;(7)肥胖、糖尿病及其他的表现,如性格行为问题,、睡眠障碍、皮肤白、毛发色浅、眼睛异常、连续发音缺陷、疼痛及呕吐阈值增高、脊柱侧弯、骨质疏松等应警惕本病的可能。本病死亡率高,应尽早发现,以期得到早期诊断与早期治疗。
Objective To report the rare case of Prader-Willi syndrome in children, arousing the cognition and attention of the counterparts on the disease. Methods The Prader-Willi syndrome in children was retrospectively reviewed and reviewed. Results After clinical physical examination and laboratory examinations, the patient was diagnosed as Prader-Willi syndrome. Conclusion The clinical features of this disease are rare, and have the following characteristics which change with age: (1) the performance in the neonatal period is more sleep less, awake awake, poor sucking and swallowing ability, and slower weight gain; (2 (3) Children under 6 years of age have delayed cognitive and speech development and mental retardation; (4) The growth hormone (5) face and body have a long head, short forehead, almond eyes, small mouth, small jaw, small hands and feet characteristic performance; (6) gonadal dysgenesis, male performance is not complete, women Delayed onset of menarche and incomplete development of secondary sexual characteristics; (7) obesity, diabetes and other manifestations such as personality problems, sleep disorders, white skin, light hair color, abnormal eyes, continuous pronunciation defects, pain and vomiting Increased threshold, scoliosis, osteoporosis, etc. should be wary of the possibility of this disease. The high mortality of this disease should be found as soon as possible, in order to get early diagnosis and early treatment.