Clinical value of prenatal ultrasonography in diagnosis of multiple fetal megacystis during early trimester / 中华医学超声杂志（电子版）

Objective To determine the imaging features and clinical value of first-trimester ultrasonographic screening of fetal megacystis in multifetal pregnancy.Methods Retrospective analysis was undertaken in 2159 cases of multifetal pregnancy screened in our hospital at gestational age from 11th to 13 + 6th weeks by color Doppler ultrasound between Jan 2011 and April 2016.Fetal bladder was defined by showing two umbilical arteries and the longitudinal length of the bladder was measured in mid-sagittalplane.Clinical progression of fetal megacystis diagnosed in first-trimester were followed and the outcomes were recorded.Results Totally six cases of fetal megacystis in multifetal pregnancy were detected,in which five cases were detected in one fetus of twin pregnancy and the other case was detected in one fetus of triplet pregnancy.In all cases of fetal megacystis,longitudinal length of the fetal bladder was more than 7 mm and double umbilical arteries were detected.In two cases of naturally-occurring twin pregnancy,abortion was performed and postnatal autopsy revealed prune belly syndrome.In the rest four cases of multifetal pregnancy through in vitro fertilization-embryo transfer (IVF-ET),two cases of twin pregnancies underwent selective feticide.The other two cases of twin and triplet pregnancies refused intervention,among which still birth happened in the megacystis fetus and spontaneous fetal death at gestational age of 13 + 2 weeks happened in the monochorionic monoamniotic twins of the triplet pregnancy.Totally,four live babies were born,among which three were healthy.The other baby was found to have 1.5 Mb deletion in chromosome 17q12 by microarray at gestational age of 32 weeks due to increased renal echogenicity.Conclusions First-trimester ultrasonography can effectively detect and diagnose megacystis in multifetal pregnancy.Early diagnosis and timely intervention are helpful for improving the outcome of fetal megacystis in multifetal pregnancy.

Differential diagnosis of the etiologies of fetal megacystis by prenatal ultrasonography / 中华超声影像学杂志

Objective To explore the clinical value of prenatal ultrasonography in the differentiation among the etiologies of fetal megacystis.Methods Twenty seven fetuses,diagnosed as fetal megacystis by prenatal ultrasonography,were retrospectively analyzed.The etiologies of fetal megacystis were presumed by such characteristics as keyhole sign,thickness of the bladder wall,amniotic fluid index,fetal sex and other combined signs.All fetuses were followed up until to the induction of labor or birth.Results Twenty seven singleton fetuses (19 males and 8 females) were diagnosed as megacystis.According to the characteristics and other combined signs,8 cases of posterior urethral valves (PUV),1 of prune belly syndrome(PBS),1 of megacystis-microcolon intestinal hypoperistalsis syndrome(MMIHS),1 of urethral atresia and 5 of chromosomal abnormality were presumed by prenatal ultrasound.Multiple malformations were found in 5 fetuses and there were also 6 fetuses with unknown reason originally.Among the 27 fetuses,21 were induced labor and 6 continued pregnancy to birth.Except for the 6 cases of unknown reason,etiologies of 17 fetuses with megacystis were confirmed by autopsy,genetic tests,surgery or further examination after birth.The accuracy rate of prenatal ultrasonography in the differentiation among the etiologies of fetal megacystis was 80.95％ (17/21).Conclusions On the basis of detailed prenatal ultrasonography and typical characteristics,it is reliable to differentiate the etiologies of fetal megacystis.Sometimes fetal megacystis may be one part of multiple malformations or complex syndrome,such as VACTERL syndrome.However,it is difficult for ultrasonography to diagnose vesicoureteral reflux(VUR)prenatally.

Síndrome megabexiga microcólon hipoperistaltismo intestinal: sobrevida até a adolescência / Megacystis-microcolon-intestinal hypoperistalsis syndrome: survival to adolescence

A síndrome megabexiga microcólon hipoperistaltismo intestinal (SMMHI) é uma doença rara, de provável herança genética, com prognóstico reservado, já no primeiro ano de vida. Relata-se um caso de SMMHI em criança do sexo feminino, atualmente com 16 anos de idade, com o objetivo de ressaltar o prognóstico favorável, não esperado, com sobrevida até a adolescência, de uma síndrome rara. Chama-se a atenção para a possibilidade de estabelecer o diagnóstico no período perinatal e para a importância de realizar o estudo urodinâmico.

A Case of Congenital Megacystis Due to Non-Obstructive Urinary Retention Associated with Intestinal Malrotation and Hypoperistalsis / 소아과

Congenital megacystis with bilateral hydroureteronephrosis is most commonly associated with posterior urethral valves, prune-belly syndrome, vesicoureteral reflux, or nonrefluxing, nonobstructive megaureters. Among the other cause of congenital megacystis, megacystis-microcolon-intestinal hypoperistalsis syndrome(MMIHS), which is characterized by megacystis, microcolon and hypoperistalsis of the intestines with resultant abdominal distension, is a rare cause of functional obstruction of urinary tracts in childhood. It was first reported by Berdon, et al. in 1976, and only 89 cases have been reported until the present. There has been no report in Korea. We report a 2 month old female patient who exhibited intestinal malrotation, megacystitis, abdominal distension and hypoperistalsis. She did not show any evidence of microcolon, but her biopsy result exhibited degenerative changes of intestinal and cystic smooth muscle, pointing to a syndrome very similar to MMIHS.

A Case of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis Microcolon Intestinal Hypoperistalsis(MMIH) Syndrome is a rare cause of functional neonatal bowel obstruction, characterized by hypoperistalsis, narrow distal ileum and colon, and bladder distension. We report a case of MMIH syndrome and review the literature. The patient was born after 34 weeks of gestation with marked abdominal distension. Her birth weight was 2,830g with 276ml of urine drained by catheter. Prenatal ultrasonic findings were bladder distension, hydronephrosis and possible intraabdominal mass. Supine view of abdomen on third day of life showed dilated loops of proximal small bowel and stomach without colonic gas shadow. Preoperative diagnosis was intestinal obstruction. When the abdomen was opened, the distal ileum was filled with meconium and postoperative diagnosis was meconium plug syndrome. Ganglion cells were present in the ileal biopsy. All postoperative attempts to feed her resulted in bilous vomiting. Voiding cystourethrography done on the 4th day after colon study showed markedly distended bladder, contrast enhanced microcolon and hypoperistalsis. She was dischaged against medical advice by her parents at the age of 23 days and died at home at the age of 33 days.

A Case of Megaureter-Megacystis Association / 대한비뇨기과학회지

Megaureter-megacystis association describes the radiographic appearance of the large capacity, thin-walled bladder and massive primary vesicoureteral reflux. The pathophysiology of these massively dilated ureters and the bladder with large capacity bases on the constant recycling of large volumes of a refluxed urine. We report a case of megaureter-megacystis in 5-year-old girl who had large residual urine(750 ml) with massive ureteral reflux. After removal of left non-functional kidney and dilated ureter, she has gained normal bladder capacity.

A Case of Megacystis Associated with Primary Chronic Intestinal Pseudoobstruction / 대한비뇨기과학회지

Primary chronic intestinal pseudo-obstruction is a rare condition characterized by the symptoms and signs of the functional intestinal obstruction due to intestinal motility dysfunction in the absence of an anatomic obstruction. Megacystis associated with primary chronic intestinal pseudo-obstruction is very rare. Herein we report a case of megacystis associated with primary chronic intestinal pseudo-obstruction.