megacystis – microcolon intestinal hypoperistalsis syndrome
description
megacystis microcolon intestinal hypoperistalsis (mmih) is a rare, usually sporadic and lethal condition with a strong female predominance (4:1). familial cases have been reported. it is characterised by a large distended but unobstructed bladder, a short, dilated, malfixed small bowel with no obstruction and distal microcolon with absent or ineffective peristalsis. it is thought that decreased gastric and intestinal mobility results in polyhydramnios. hydronephrosis and hydroureter are present in most cases. histologically, unlike hirschsprung’s disease, there are normal or increased ganglia and if the infant survives all of the segments of the colon become normal in size or dilated. poor gastrointestinal function leads to malnutrition and infants have died despite hyperalimentation with sepsis seen as a final complication in many. a less severe familial visceral myopathy, chronic idiopathic intestinal pseudo obstruction (ciip) is seen in adolescents or young adults and characterised by bladder, ureteral, intestinal and oesophageal dysfunction. electromicroscopic studies show similar vacuolar degeneration of smooth muscle in mmih and ciip.
diagnosis
an enlarged bladder, dilated small bowel and polyhydramnios are the cardinal features of mmih. hydronephrosis and hydroureter are almost always present. although polyhydramnios may not be seen until later in pregnancy a normal fluid volume suggests lack of complete urethral obstruction. the incidence of other anomalies is about 15%. in the absence of a family history, a definitive diagnosis especially in the second trimester may be very difficult. associated anomalies may include omphalocele, cardiac anomalies, and cleft palate. in one case, multiple cardiac rhabdomyomas were identified in a patient with mmhis. it has been speculated that the gene for tuberous sclerosis (associated with rhabdomyoma) and mmihs may be located close to one another or chromosome 9.
differential diagnosis
in a male fetus the classic keyhole” sign of posterior urethral valves should be excluded. renal changes due to obstructive uropathy are usually more severe and/or progressive. decreasing amniotic fluid volume in the second trimester or oligohydramnios suggests an obstructive uropathy. in females with urethral obstruction or detrusor hypertrophy, severe oligohydramnios is usually seen. dilated loops of bowel can be seen due to an obstructive lesion intraabdominally or secondary to an abdominal wall defect. care should be taken to rule out a small herniation of bowel which could result in obstruction. in these cases the bladder is usually not distended and bowel peristalsis can often be identified. hydrocolpos can result in a cystic mass in the lower abdomen and can be associated with an enlarged bladder, hydroureter and hydronephrosis with normal fluid volume in a female fetus. identification of the uterus arising from the cystic vagina or evidence of a bulging hymen will identify the source of the mass. an ovarian cyst can sometimes cause compression resulting in bladder enlargement, hydroureter and hydronephrosis in the presence of normal amniotic fluid. the usually round (not tubular) shape of the cyst and its location should differentiate it from dilated bowel. hirschprungís disease and other conditions involving myenteric plexus abnormalities are characterised by lack of ganglia on pathological examination, but prenatal ultrasound findings may include enlarged bowel. ciip (chronic idiopathic intestinal pseudo-obstruction) may display similar but milder symptoms but is not usually diagnosed prenatally because onset is usually in adolescence or young adulthood. “
sonographic features
distended bladder
no obvious outflow obstruction
hydroureter/hydronephrosis almost always present
amniotic fluid normal or decreased in mid pregnancy
polyhydramnios common after 34 weeks
dilated loops of small bowel
strong female preponderance
associated syndromes
references
nyberg d, mahony b, pretorium d in: diagnostic ultrasound of fetal anomalies: text and atlas mosby year book: st. louis, p451,453
romero r, pilu g, jeanty p, ghidini a, hobbins j in: prenatal diagnosis of congenital anomalies appleton & lange: norwalk, p291
puri p, lake bd, gorman f, et al megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy j pediatr surg 18:64
young lw, yunis ej, girdany br, et al megacystis-microcolon-intestinal hypoperistalsis syndrome: additional clinical radiologic, surgical, and histopathologic aspects ajr 137:749
fleischer a, romero r, manning f, jeanty p, james jr a in: the principles and practice of ultrasonography and obstetrics and 足球世界杯赛程2022赛程表
, 4th edition appleton & lange: norwalk, p267-68
stamm e, king g, thickman d megacystis-microcolon-intestinal hypoperistalsis syndrome: prenatal identification in siblings and review of the literaturej of ultra med 10:599-602
young lw, yunis et, girdany br, sieber wk megacystis-microcolon-intestinal hypoperistalsis syndrome: additional clinical, radiologic, surgical and histopathologic aspects ajr 137:749-55
couper rt, byard rw, cutz e, stringer da, durie pr cardiac rhabdomyomata and megacystis-microcolon-intestinal-hypoperistalsis syndrome j med genet 28:274-6
al-rayess m, ambler mw axonal dystrophy presenting as the megacystic-microcolon-intestinal hypoperistalsis syndrome pediatr pathol 12:743-50