Cuillier F, Cartault F, Rivière J-P, Tuaillon J
Service de Gynécologie, Hôpital Félix Guyon, Ile de la Réunion, France.
J Gynecol Obstet Biol Reprod (Paris). 2004 Sep;33(5):444-9. doi: 10.1016/s0368-2315(04)96553-2.
Megacystis on antenatal scan in female fetuses is rare and has diagnostic implications. We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a female infant. The antenatal scan revealed abnormalities, but the diagnosis was not established until after delivery. MMIH is a rare autosomal recessive condition which is usually lethal in the first year of life. Prenatal diagnosis is hampered by the lack of specific diagnostic ultrasound findings and the absence of an identified genetic locus.
女性胎儿产前超声检查发现巨大膀胱较为罕见，且具有诊断意义。我们报告一例女性婴儿患巨大膀胱-小结肠-肠蠕动不良综合征（MMIHS）的病例。产前超声检查发现了异常情况，但直到分娩后才确诊。MMIH是一种罕见的常染色体隐性疾病，通常在出生后第一年致命。由于缺乏特异性诊断超声表现以及未确定的基因位点，产前诊断受到阻碍。
