中国现代药物应用
中國現代藥物應用
중국현대약물응용
CHINESE JOURNAL OF MODERN DRUG APPLICATION
2014年
14期
11-12
,共2页
新生儿%Prader-Willi综合征%中枢性肌张力低下
新生兒%Prader-Willi綜閤徵%中樞性肌張力低下
신생인%Prader-Willi종합정%중추성기장력저하
Newborn%Prader-Willi syndrome%Low central muscle tension
目的对新生儿Prader-Willi综合征(PWS)的临床表现进行分析，以求早期诊断，减少误诊。方法26例新生儿Prader-Willi综合征患儿的临床表现、诊断进行回顾性分析，总结其临床特点及误诊原因。结果26例患儿均表现为不同程度的全身皮肤色素减退，中枢性肌张力低下，哭声低；13例父源性15q11.2-q13区域缺失型：吸吮无力11例(84.6%)，小下颌7例(53.8%)，男性隐睾9例(69.2%)，女性小阴唇4例(30.7%)，胎动减少6例(46.2%)。7例母源性同源二倍体：男性隐睾2例(28.5%)，女性小阴唇3例(42.8%)，吸吮无力4例(57.1%)，胎动减少3例(42.8%)。结论新生儿Prader-Willi综合征的临床表现不典型，易误诊，发现患儿全身皮肤色素减退，中枢性肌张力低下，哭声低，要及时筛查，早期诊断。
目的對新生兒Prader-Willi綜閤徵(PWS)的臨床錶現進行分析，以求早期診斷，減少誤診。方法26例新生兒Prader-Willi綜閤徵患兒的臨床錶現、診斷進行迴顧性分析，總結其臨床特點及誤診原因。結果26例患兒均錶現為不同程度的全身皮膚色素減退，中樞性肌張力低下，哭聲低；13例父源性15q11.2-q13區域缺失型：吸吮無力11例(84.6%)，小下頜7例(53.8%)，男性隱睪9例(69.2%)，女性小陰脣4例(30.7%)，胎動減少6例(46.2%)。7例母源性同源二倍體：男性隱睪2例(28.5%)，女性小陰脣3例(42.8%)，吸吮無力4例(57.1%)，胎動減少3例(42.8%)。結論新生兒Prader-Willi綜閤徵的臨床錶現不典型，易誤診，髮現患兒全身皮膚色素減退，中樞性肌張力低下，哭聲低，要及時篩查，早期診斷。
목적대신생인Prader-Willi종합정(PWS)적림상표현진행분석，이구조기진단，감소오진。방법26례신생인Prader-Willi종합정환인적림상표현、진단진행회고성분석，총결기림상특점급오진원인。결과26례환인균표현위불동정도적전신피부색소감퇴，중추성기장력저하，곡성저；13례부원성15q11.2-q13구역결실형：흡전무력11례(84.6%)，소하합7례(53.8%)，남성은고9례(69.2%)，녀성소음진4례(30.7%)，태동감소6례(46.2%)。7례모원성동원이배체：남성은고2례(28.5%)，녀성소음진3례(42.8%)，흡전무력4례(57.1%)，태동감소3례(42.8%)。결론신생인Prader-Willi종합정적림상표현불전형，역오진，발현환인전신피부색소감퇴，중추성기장력저하，곡성저，요급시사사，조기진단。
Objective To analyze the clinical manifestations of neonatal Prader-Willi syndrome, in order to early diagnosis and reduce misdiagnosis. Methods Retrospectively analyzed syndrome clinical manifestation, diagnosis of 26 newborn children with Prader-Willi, summarized the clinical characteristics and misdiagnosed reasons. Results All 26 cases were characterized by different levels of the whole body skin pigment loss, low central muscle tension, low crying;13 cases of parent source sex 15q11. 2-q13 region lack, sucking weakness 11 cases (84.6%), small jaw 7 cases(53.8%), male cryptorchidism 9 cases(69.2%), women’s labia minora 4 cases(30.7%), decreased fetal movement 6 cases (46.2%). For 7 cases of maternal homologous diploid, male sex cryptorchidism 2 cases(28.5%) and women nympha 3 cases(42.8%), sucking weakness 4 cases (57.1%), decreased fetal movement 3 cases (42.8%). Conclusion The clinical manifestations of neonatal Prader-Willi syndrome is not typical, so it is easy misdiagnosis. When children with systemic skin pigment loss, low central muscle tension, low cry, timely screening should be performed for early diagnosis.
