Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report

Verbruggen, S. C. A. T.; Wijnen, RMH; Berg, P van den

doi:10.1080/jmf.16.2.140.141

Cited by 14 publications

(4 citation statements)

References 2 publications

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“…These abnormalities may be difficult to observe in association with MMIHS due to a massively enlarged fetal bladder. In this review, a dilated fetal stomach was usually detected in the early second trimester [4,22,24,30] and preceded findings of dilated bowel loops, which were usually apparent in the third trimester. The role of MRI in the setting of MMIHS is yet to be determined, however, and may offer additional information regarding gastrointestinal and genitourinary abnormalities [15,17].…”

Section: Discussionmentioning

confidence: 99%

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Tuzović¹,

Anyane‐Yeboa²,

Mills³

et al. 2014

Fetal Diagn Ther

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Objective: To investigate prenatal ultrasonographic findings associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Methods: A PubMed search was performed using the terms ‘MMIHS', ‘MMIH' and ‘prenatal diagnosis'. Results: A total of 50 cases were analyzed. Prenatal diagnosis was achieved in 26% of cases. In 54% of patients with a correct antenatal diagnosis there was a previously affected sibling. Fetal megacystis with or without hydroureteronephrosis was the most common initial ultrasonographic finding (88%). While megacystis eventually complicated all fetal presentations, isolated bilateral hydronephrosis and isolated dilated stomach were noted (in 10 and 2% of cases, respectively) prior to megacystis. The initial sonographic abnormality was most commonly detected (in 70% of patients) in the second trimester. Amniotic fluid was normal in 69% and increased in 27% of cases. Gastrointestinal abnormalities were noted in 24% of pregnancies. Conclusion: MMIHS should be prenatally suspected when fetal megacystis is associated with a normal or increased amount of amniotic fluid and normal external genitalia, especially in the setting of a suggestive family history. Associated gastrointestinal findings support this diagnosis. Isolated bilateral hydronephrosis may precede the development of megacystis. Due to preserved renal function and a general absence of oligohydramnios, no rationale exists for vesicoamniotic shunt placement.

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Section: Discussionmentioning

confidence: 99%

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Tuzović¹,

Anyane‐Yeboa²,

Mills³

et al. 2014

Fetal Diagn Ther

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“…Prenatal ultrasound has been the most frequently utilized method. Diagnosis is made from the presence of megacystis with hydronephrosis and normal or increased amniotic fluid volume in most patients, although a decrease in volume has occasionally been reported [20]. Magnetic resonance imaging (MRI) performed between 23 and 28 weeks of gestation has shown abnormal bowel signs and abnormal patterns of the urinary tract, with increased diagnostic sensitivity with the use of digestive enzyme assays in amniotic fluid [21].…”

Section: Prenatal Diagnosismentioning

confidence: 98%

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): Report of a case with prolonged survival and literature review

López-Muñoz

Hernández-Zarco

Polanco-Ortiz

et al. 2013

Journal of Pediatric Urology

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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) was first described in 1976. A rare congenital autosomal recessive alteration that predominantly affects females (4:1 ratio), it is characterized by the presence of distended bladder (without distal urinary tract obstruction), microcolon, and decreased or absent intestinal peristalsis. Inconsistent and non-specific histological changes affecting the bladder and intestinal smooth muscle, and intrinsic innervations, have been reported most frequently. MMIHS usually has a fatal prognosis in the first year of life; nevertheless there are some case reports of longer survival. Here is presented the case report of a boy with a diagnosis of MMIHS who has achieved prolonged survival, followed by a review of the literature.

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“…2 The prominent antenatal sonographic findings of this syndrome are a greatly distended bladder and bilateral hydroureteronephrosis. [2][3][4][5][6][7][8][9][10] It has been reported that the amount of amniotic fluid is generally normal; however, it is extremely variable in some cases. It is necessary to exercise care when doing ultrasound examinations in utero, particularly while distinguishing MMIHS from mechanical urinary tract obstruction, which is associated with severe oligohydramnios.…”

Section: Discussionmentioning

confidence: 99%

Megacystis‐Microcolon‐Intestinal Hypoperistalsis Syndrome

Hidaka

Kawamata

Chiba

2006

J of Ultrasound Medicine

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Objective. The purpose of this report is to describe the in utero sonographic appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and examine the role of vesicocentesis. Methods. Two cases of the sonographic appearance of MMIHS were reviewed. We performed vesicocentesis in 2 fetuses with MMIHS and performed vesicoamniotic shunting in 1 of them. The sonographic findings after these procedures were compared with those before puncture. Results. In both cases, ultrasound examination showed a massively enlarged fetal bladder and bilateral hydroureteronephrosis with a normal amount of amniotic fluid. Fetal urinary sodium and chloride concentrations were within normal limits in both cases; this suggested normal fetal renal function. Generally, it is difficult to detect the dilated fetal bowel in MMIHS, probably because of the disturbance caused by a large bladder. In our cases, however, the ultrasound examination clearly showed fetal bowel dilatation after these procedures; this made the antenatal diagnosis of MMIHS more definite. Conclusions. The sonographic features after vesicocentesis may be helpful in confirming the antenatal diagnosis of MMIHS. Key words: fetal urinalysis; megacystis-microcolon-intestinal hypoperistalsis syndrome; sonographic appearance; vesicocentesis. egacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is an unusual congenital condition with a high mortality rate. It is characterized by a massively enlarged urinary bladder, incomplete intestinal rotation, microcolon, and hypoperistalsis throughout the intestinal tract. Some previous reports have revealed that the typical antenatal sonographic findings are as follows: a greatly distended bladder, bilateral hydroureteronephrosis, and a normal amount of amniotic fluid; however, the antenatal diagnosis of this syndrome is occasionally difficult. We present 2 cases of MMIHS diagnosed antenatally. We performed vesicocentesis to evaluate fetal renal function in both cases and performed a vesicoamniotic shunt operation in 1 of them. The sonographic features after these procedures assisted in confirming the antenatal diagnosis.

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Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report

Cited by 14 publications

References 2 publications

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): Report of a case with prolonged survival and literature review

Megacystis‐Microcolon‐Intestinal Hypoperistalsis Syndrome

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