Megacystis-microcolon-intestinal Hypoperistalsis Syndrome Research Articles

Síndrome de berdon (megavejiga, microcolon, hipoperistalsis). presentación de nuestros casos

Berdon Syndrome is a rare congenital malformation that consists in megacystis and severe intestinal malformations that condition the prognosis in most of the cases. We report the three cases diagnosticated between 1976-2003. Diagnosis, therapeutics aspects and evolution are discussed.

The Berdon Award and other innovations

The Berdon Award and other innovations

Megacystis microcolon intestinal hypoperistalsis syndrome with bilateral duplicated systems

A 29-year-old multigravida woman presented for her second prenatal ultrasound evaluation at 30 weeks of gestation. The study showed a female fetus, bilateral duplicated systems with severe hydronephrosis in the upper pole moieties and a massively distended bladder. Initial interpretation suggested ectopic/obstructing bilateral ureteroceles. To evaluate these findings further, a prenatal magnetic resonance imaging scan was obtained, documenting the absence of ureteroceles. The presumptive diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome was made. After birth, contrast enema confirmed the presence of microcolon. This appears to be the first reported case of megacystis microcolon intestinal hypoperistalsis syndrome with bilateral duplex systems evaluated with prenatal magnetic resonance imaging.

Alterations in smooth muscle contractile and cytoskeleton proteins and interstitial cells of Cajal in megacystis microcolon intestinal hypoperistalsis syndrome

Background/Purpose: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by decreased or absent peristalsis. Gastrointestinal motility depends on the enteric nervous system, smooth muscle cells (SMCs), and the interstitial cells of Cajal (ICCs). Contractile and cytoskeleton proteinase are important structural and functional components of SMCs. The aim of study was to examine the expression of contractile and cytoskeleton proteins in SMCs and distribution of ICCs in MMIHS bowel. Methods: Full-thickness bowel specimens were obtained from 4 infants with MMIHS and 4 controls. Specimens were processed as whole-mount preparations and frozen and paraffin sections. Combined staining of NADPH-d histochemistry/c-kit immunohistochemistry, single and double immunohistochemistry using α-smooth muscle actin (α-SMA), calponin (CALP), caldesmon (CALD), desmin (DES), protein gene product 9.5 (PGP 9.5) and c-kit antibodies were performed and examined using light and confocal scanning microscopy. Results: α-SMA, CALP, CALD, and DES immunoreactivity were reduced markedly in MMIHS bowel compared with controls. Combined NADPH/c-kit staining showed dense network of ICCs around myenteric plexus in MMIHS bowel. In contrast, the intramuscular ICCs either were absent or reduced in MMIHS bowel. Conclusions: Marked reduction of contractile and cytoskeleton proteins in SMCs combined with reduced expression of intramuscular ICCs in the gut may be responsible for the motility dysfunction in MMIHS. J Pedriatr Surg 38:749-755. © 2003 Elsevier Inc. All rights reserved.

Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic ooutflow obstruction

We report a case of a 46,XY male infant with a history of normal amniotic fluid levels who was delivered by elective cesarean section at 38.5 weeks’ gestation because of progressive bladder distension, hydroureteronephrosis, and what was thought to be a dilated posterior urethra. The child died at 19 days of age of cardiovascular complications. The autopsy revealed megacystis, bilateral megaureters and pyelocaliectasis, congenital absence of ganglion cells in the bladder wall, renal dysplasia, and a microcolon. No dilation or anatomic obstruction of the posterior urethra was found. These findings strongly suggest the diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome. We discuss the ultrasound findings of in utero bladder distension with hydronephrosis and one of its rare etiologies.

Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive disorder causing a functional neonatal bowel obstruction. Its etiopathogenesis is not fully understood. The prognosis is poor in the majority of cases; most patients die before the age of 6 months. In this report, we describe our experience with three patients with MMIHS in whom multivisceral transplantation was performed. Three patients with MMIHS underwent multivisceral transplantation. All patients were females with a history of long-term total parenteral nutrition (TPN) with TPN-related cholestatic liver disease. Patient 1 died 17 months after transplantation because of aspiration after revision of her feeding gastrostomy. At the time of death, the graft was functioning and the patient was completely off TPN. Patient 2 is alive 17 months after transplant. She is a fully functional, active 2-year-old and has also recently begun oral feeding after intensive rehabilitation. Patient 3 died on day 44 of multisystem failure. This is the first report in the literature of multivisceral transplantation for MMIHS. Although one of the three patients died 44 days after surgery from multiorgan system failure, the other two patients had long-term survival after transplant and both grew well on enteral feeding alone. One patient died 17 months from a non-transplant-related complication, while the other is living at home off of TPN, with almost complete dietary rehabilitation 17 months after transplant. Our case reports suggest that multivisceral transplantation is a valuable therapeutic option for patients affected by MMIHS with TPN-induced liver failure.

Megacystic microcolon intestinal hypoperistalsis syndrome: Evidence of a primary myocellular defect of contractile fiber synthesis

Two infant boys with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) are reported. Presenting with neonatal intestinal obstruction, they underwent laparotomies that showed megacystis, microcolon, and aperistaltic shortened small bowel without any mechanical obstruction. Patient 1 gradually improved and is developing normally at home, on a normal diet without genitourinary or gastrointestinal complaints (now 11 years old). Patient 2, who underwent vesicoamniotic drainage antenatally, nerver developed adequate gastrointestinal or genitourinary function in spite of appropriate diversion and pharmacologic support. He showed progressive deterioration and died at the age of 7 months. Detailed histo-immuno- and ultrastructural pathology assessment, although confirming results in the existing literature in some aspects, showed previously unreported neuronal dysplastic changes associated with increased laminin and fibronectin. Although patient 1 showed ultrastructural features of vacuolar degeneration of smooth muscle as reported in the literature, patient 2 showed ultrastructural and histochemical evidence of excessive smooth muscle cell glycogen storage with severely reduced contractile fibres displaced to the extreme periphery of the cells, suggesting a fundamental defect of glycogen-energy utilization. A deficiency of fiber synthesis as the alternative primary defect is discussed. In both cases, a two-step genetic defect may explain the variability in clinical outcome and pathological findings.

New observations on the pathogenesis of megacystis microcolon intestinal hypoperistalsis syndrome: H. Kobayashi, S. O'Briain, [formula omitted]. Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland

New observations on the pathogenesis of megacystis microcolon intestinal hypoperistalsis syndrome: H. Kobayashi, S. O'Briain, [formula omitted]. Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland

Autonomic innervation of the intestine from a baby with megacystis microcolon intestinal hypoperistalsis syndrome: II. Electrophysiological study

The pattern of spontaneous activity and innervation of the stomach, small intestine, and bladder obtained from a patient with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) was studied in vitro, using tension recording and microelectrode techniques. We found that, compared with findings in the controls, autonomic inhibitory input to the smooth muscle cells of the small intestine was significantly decreased.

Autonomic innervation of the intestine from a baby with megacystis microcolon intestinal hypoperistalsis syndrome: I. Immunohistochemical study

A typical case of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is reported. The patient, an infant girl, was fed only by total intravenous nutrition and is now 3 years old. The distribution of several gut peptides was examined in the resected small intestine using an immunohistochemical method. Vasoactive intestinal polypeptide (VIP) and peptide histidine methionine (PHM)-containing nerve fibers were decreased; however, substance P- and leucine enkephalin (Leu-ENK)-containing fibers were increased. The imbalance between several kinds of gut peptides might be one the causes of aperistalsis in MMIHS. This is the first report about the gut peptides of MMIHS.

Megacystis-microcolon-intestinal hypoperistalsis syndrome: A visceral myopathy

Two newborn infants with megacystis-microcolon-intestinal hypoperistalsis syndrome are described. Review of the literature revealed twenty previously reported cases of this syndrome. Electron microscopic examination of the ileum and urinary bladder showed vacuolar degenerative changes in the smooth muscle cells with abundant amount of connective tissue between the muscle cells. These ultrastructural findings suggest that a degenerative disease of smooth muscle may be the cause of megacystis microcolon intestinal hypoperistalsis syndrome.

Berdon syndrome

Berdon syndrome

The megacystis microcolon intestinal hypoperistalsis syndrome: Report of a case

An infant girl with the megacystis microcolon intestinal hypoperistalsis syndrome is reported. The presence of polyhydramnios and the absence of upper urinary tract abnormalities, differentiate this patient from similar cases previously reported. Although the etiology of this disease is unknown, partial success with the use of bethanechol suggests that the deranged intestinal motility may be related to dysfunction of the autonomic nerve endings of the gut.

Urologic evaluation of megacystis-microcolonintestinal hypoperistalsis syndrome

The seventh case of megacystis-microcolon-intestinal hypoperistalsis syndrome is presented with its urologic aspects. In contrast to the bowel conditions, the urologic problems were tractable.

Megacystis–microcolon–intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn

Berdon et al. (1976) first described a syndrome comprising intestinal obstruction and microcolon and a giant urinary bladder with megaureters. The authors coined the term “The megacystis microcolon intestinal hypoperistalsis syndrome”. We report a further case of this syndrome. K.A. was a full-term female infant born by vaginal delivery on February 8, 1978, following a pregnancy complicated by hydramnios. Her birth weight was 3.09 kg. This was the fourth pregnancy. Two siblings are alive and well. The first child, also female, was born alive but died at 4 days of intestinal obstruction. The patient was transferred to Alder Hey on the day of birth because of abdominal distension and deficient abdominal muscles. On examination her abdomen was midlly distended in its upper half, the abdominal wall was very lax but some muscle was present. The skin was redundant and had the appearance of a “prune belly”. No meconium had been passed. Nasogastric aspiration yielded 3.0 ml of dark green fluid. Apart from serum p...