We are reporting a case of megacystis microcolon intestinal hypoperistalsis syndrome diagnosed prenatally at 25 weeks of gestation. It signifies only that the obstruction is above the colon. Megacystismicrocolonintestinal hypoperistalsis syndrome mmihs,is a rare autosomal recessive disorder that was first described in 1976 by berdon et al in five newborn girls. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs mim155310 is a rare congenital defect of visceral smooth muscle, primarily affecting females who present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis.
This study was designed to determine the incidence and outcome of mmihs. Megacystis microcolon intestinal hypoperistalsis syndrome prem puri, masato shinkai from the childrens research centre, our ladys hospital for sick children, university college dublin, dublin, ireland. Ito, autonomic innervation of the intestine from a baby with megacystis microcolon intestinal hypoperistalsis syndrome. Two neonates with megacystis microcolon intestinal hypoperistalsis syndrome are described. Associated features include gut malrotation, a short bowel, microcolon, and microileum. Megacystis microcolon intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome. What is megacystis microcolon intestinal hypoperistalsis syndrome.
Mar 12, 2018 this is a case of megacystis, microcolon, intestinal hypoperistalsis syndrome with typical prenatal presentation and with unusually favorable postnatal evolution. It is characterized by abdominal distension caused by a markedly distended, nonobstructed urinary bladder, microcolon, and intestinal hypoperistalsis with functional intestinal obstruction. The authors report a case of a female term infant with massive abdominal distension. Megacystis, microcolon, intestinal hypoperistalsis syndrome and. It is characterized by a massively enlarged urinary bladder, incomplete intestinal rotation, microcolon, and hypoperistalsis throughout the intestinal tract. The 19 year old female however was diagnosed shortly after birth.
While there is no explanation as yet for the aetiology and pathogenesis, the diagnosis is simple, the treatment symptomatic, and the outcome fatal. Pdf megacystismicrocolonintestinal hypoperistalsis. Megacystismicrocolonintestinalhypoperistalsis syndrome. Microcolon in newborn infants with intestinal obstruction.
Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine that was first described in 1976. Wymer km, anderson bb, wilkens aa, gundeti ms 2016 megacystis microcolon intestinal hypoperistalsis syndrome. Currently, there is no specific treatment for this. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is inherited in an autosomal dominant manner. Intestinal malrotation and lesions can be common in mmihs patients and can be corrected with surgical intervention. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. Megacystismicrocolonintestinal hypoperistalsis syndrome mmihs. Megacystis microcolonintestinal hypoperistalsis syndrome mmihs is a rare and severe condition that is characterized by functional intestinal obstruction with dilated small intestine, microcolon, malrotation, decreased or absent bowel movement, and, prenatally, a massively enlarged nonobstructive urinary bladder often associated with hydroureteronephrosis. While there is no explanation as yet for the aetiology. Megacystismicrocolonintestinal hypoperistalsis syndrome and.
Report of radiologic findings in five newborn girls megacystis microcolon intestinal hypoperistalsis syndrome. In addition, if you or a family member have been affected by mmihs please join the megacystis microcolon support group. Megacystis microcolon intestinal hypoperistalsis syndrom mmihs is a quite rare congenital and fatal disease which was firstly defined by berdon and his colleagues. Postoperatively total parenteral nutrition was provided to the patient. Up to 1992, 59 cases 46 females and males were reported in the literature, with a poor outcome 2. The infants also had microcolon and dilated small intestines. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for megacystis microcolon. In a 2011 study of 227 children with the syndrome, the oldest survivor was 24 years old. Berdon syndrome, also called megacystismicrocolonintestinal hypoperistalsis syndrome, is an autosomal recessive fatal genetic disorder affecting newborns.
Megacystis microcolon intestinal hypoperistalsis syndrome complicated by perforation. If you have any questions, comments, or input please utilize the contact page to get in touch. Treatment with central venous hyperalimentation may sustain life, and some patients eventually recover gastrointestinal function. Also known as berdon syndrome 1, it is characterized by massive abdominal distension caused by a largely dilated non obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. Megacystismicrocolonintestinal hypoperistalsis syndrome ajr. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a quite rare congenital and fatal disease.
Megacystismicrocolonintestinal hypoperistalsis syndrome mmihs is characterized by megacystis bladder distension in the absence of mechanical obstruction, microcolon, and intestinal hypoperistalsis dysmotility. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is now a well established entity 1,2. Made up of over 100 members, this private group is truly an invaluable resource for mmihs patients and their family members. It is characterized by abdominal distention caused by a grossly enlarged, nonobstructed bladder megacystis. The general brochure contains a description of mmihs and a glimpse of what is can look like. It appears through a widely enlarged bladder and microcolon and its cause is unknown. This impairs the functioning of the stomach, intestines, kidneys, and bladder, thus interfering with urination and digestion. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare and severe disorder characterized by functional obstruction in the urinary and gastrointestinal tract. No ganglion cells were present in the colon or bladder. Pdf megacystis microcolon intestinal hypoperistalsis. Loss of lmod1 impairs smooth muscle cytocontractility and. Looking for online definition of megacystis microcolon intestinal hypoperistalsis syndrome in the medical dictionary. Given the rarity of the syndrome, this group is an invaluable resource to those affected by it.
This means that having a change mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have this condition. Currently there are about 50 members comprised of mmihs patients and their family members. This syndrome is characterized by abdominal distension caused by a distended nonobstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis 1. It also includes an explanation of typical symptom management strategies and a list of things you should know straight from mmihs families themselves. However the 24 year old male was only diagnosed as an adult and appeared to have a milder case. In a 2011 study of 227 children with the syndrome, the oldest survivor 24 years old. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare congenital disease characterized by. Megacystis microcolon intestinal hypoperistalsis syndrome. Pdf megacystis microcolon intestinal hypoperistalsis syndrom mmihs is a quite rare congenital and fatal disease which was firstly defined by berdon. It is characterized by impairment of the muscle contractions that move food through the digestive tract peristalsis and empty the bladder. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs, berdon syndrome was first described by walter berdon in 1976.
Berdon syndrome, also called megacystis microcolon intestinal hypoperistalsis syndrome mmih syndrome, is an autosomal recessive fatal genetic disorder affecting newborns. Megacystismicrocolonintestinal hypoperistalsis syndrome mmihs is a rare congenital and generally fatal cause of functional intestinal obstruction in the newborn. Mmihs megacystis microcolon intestinal hypoperistalsis. It appears through a widely enlarged bladder and microcolon and its cause is unknown berdon et al. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare congenital and generally fatal cause of functional intestinal obstruction in the newborn. Four newborn infants with megacystis microcolon intestinal hypoperistalsis syndrome mmihs were identified at childrens hospital of pittsburgh. However, the complications related to intestinal hypoperistalsis, or abnormally sluggish intestinal motility, is considered the more serious and difficult symptom to manage the primary goal of treatment is to provide the patient with adequate nutrition and to. Meaning of megacystis microcolon intestinal hypoperistalsis syndrome medical term. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs also known as the berdon syndrome is a rare congenital disorder characterized by a dilated nonobstructive urinary bladder and hypoperistalsis of the gastrointestinal tract. Megacystis microcolon intestinal hypoperistalsis syndrome berdon. Cardiac rhabdomyomata megacystismicrocolon intestinal. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a very rare congenital condition of unknown etiology. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. Bariumenema studies have shown that many infants with intestinal obstruction above the colon do not have microcolon.
Ultrasound prenatal diagnosis of typical megacystis. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have this. Prenatal diagnosis of megacystis microcolon intestinal. The ann arbor news reported a five year old survivor at the end of 2015. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare congenital condition that results from a developmental defect of the smooth muscle in the bladder and colon. Sep 27, 2000 megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications. The 19 year old female however was diagnosed shortly after. Four newborn infants with megacystismicrocolonintestinal hypoperistalsis syndrome mmihs were identified at childrens hospital of pittsburgh. Megacystis megacolon intestinal hypoperistalsis syndrome. At present, there is no specific treatment for mmihs, and.
All had marked dilation of the bladder and some had hydronephrosis and the external appearance of prune belly see 100100. Megacystismicrocolonintestinal hypoperistalsis syndrome mmihs was first. Megacystis, microcolon, intestinal hypoperistalsis syndrome and bilateral streak gonads. It is more prevalent in females and is characterized by constipation and urinary retention, microcolon, giant bladder, intestinal. Megacystismicrocolonintestinalhypoperistalsis syndrome mmihs is a rare and severe disorder characterized by functional obstruction in the urinary and gastrointestinal tract. Compound heterozygous variants in myh11 underlie autosomal. Megacystis microcolon intestinal hypoperistalsis syndrome genetic. However, polyhydramnios is frequently encountered during the third trimester in megacystis microcolon intestinal hypoperistalsis syndrome.
Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare congenital condition, and such patients tend to present with abdominal distension, a largely dilated nonobstructive bladder, microcolon, and severe functional intestinal obstruction without structural atresia or stenosis in the neonatal period. The main manifestation was functional obstruction of the urinary and gastrointestinal tracts. Fetus had bilateral hydronephrosis and megacystis in the presence of polyhydramnios suggestive of nonobstructive megacystis. Diversion colitis in a 19yearold female with megacystis microcolon intestinal hypoperistalsis syndrome. Enable javascript to view the expandcollapse boxes. Megacystismicrocolonintestinal hypoperistalsis syndrome in. It is an extremely rare disorder that affects the bladder and gastro. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs was first described in 1976 by berdon et al.
Mmihs megacystis microcolon intestinal hypoperistalsis syndrome. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs also known as the berdon syndrome is a very. The sonogram revealed megacystis, hydronephrosis, and a normal amount of amniotic fluid. Megacystismicrocolonintestinal hypoperistalsis syndrome. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare congenital disease with high mortality rate. Microcolon is the radiologic finding of a colon of tiny caliber on bariumenema examination of newborn infants with intestinal obstruction. Sep 24, 2009 megacystis microcolon intestinal hypoperistalsis syndrom mmihs is a quite rare congenital and fatal disease which was firstly defined by berdon and his colleagues. Mmihs is characterized by a massively enlarged urinary bladder and aperistaltic intestine in the newborn. Report of radiologic findings in five newborn girls we berdon, dh baker, wa blanc, b gay, tv santulli and c donovan. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare and the most severe form of functional intestinal obstruction. Two neonates with megacystismicrocolonintestinal hypoperistalsis syndrome are described. Megacystismicrocolonintestinal hypoperistalsis syndrome mmihs is a rare congenital disorder, acknowledged as the most debilitating form of chronic intestinal.
Megacystis microcolon intestinal hypoperistalsis syndrome orphanet. This congenital condition is associated with nonobstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. This is a case of megacystis, microcolon, intestinal hypoperistalsis syndrome with typical prenatal presentation and with unusually favorable postnatal evolution. The megacystis microcolon support group is a facebook group that was created in 2014 by susan demrick koprucki, the mother of a daughter with mmihs.
Oct 20, 2016 megacystis microcolon intestinal hypoperistalsis syndrome mmihs is inherited in an autosomal dominant manner. The megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare autosomal recessive condition of unknown pathogenesis whose genes map to 15q24. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a severe disorder affecting the muscles that line the bladder and intestines. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare and the most severe form of functional intestinal obstruction in the newborn. Mmihs is a rare condition that associates a large bladder, a small colon, intestinal hypoperistalsis, and polyhydramnios. The disease is three to four times more prevalent in females than males.
Megacystis microcolon intestinal hypoperistalsis syndrome was observed in a male infant. On the basis of these findings the diagnosis of megacystis microcolon intestinal hypoperistalsis mmihs was made and an ileostomy was made. Treatment is by tpn with ileostomy or bowel management program, and repeated urinary catheterization or vesicostomy. Megacystismicrocolonintestinal hypoperistalsis syndrome mmihs is a severe disorder affecting the muscles that line the bladder and intestines. Megacystismicrocolonintestinalhypoperistalsis syndrome mmihs is a rare and. Jul 27, 2011 megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a rare and the most severe form of functional intestinal obstruction in the newborn. Intestinal hypoperistalsis, megacystis, microcolon. Review of the literature failed to turn up any other cases involving males. It is an extremely rare disorder that affects the bladder and gastrointestinal system. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a multisystemic disorder in which impaired intestinal motor activity causes recurrent symptoms of intestinal obstruction in the absence of mechanical occlusion, associated with bladder distention without distal obstruction of the urinary tract. The major features of this congenital and usually lethal anomaly are abdominal distension, bilestained vomiting, and absent or decreased bowel peristalsis. Pdf megacystismicrocolonintestinal hypoperistalsis syndrome. This has not been mentioned in other reported cases and, therefore, suggests pathogenic heterogeneity.
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