Niger J Paed 2012; 39 (4): 202 - 205  
Zikavska T  
Unusual cause of neonatal intestinal  
Brucknerova I  
Cervenova O  
Vidiscak M  
Hustavova L  
Accepted: 14th January 2012  
Abstract There are many causes of  
intestinal obstruction in the neona-  
tal age. The most common types are  
mechanical and result from con-  
genital malformations of the gastro-  
intestinal tract. However, functional  
disorders also occur. In some cases,  
diagnosis can be made prenatally  
but in others manifestation occurs  
after birth.  
The aim of this article is to present  
the case of a newborn with intesti-  
nal obstruction characterized by  
microcolon, dilated small bowel  
and megacystis known as Megacys-  
tis-Microcolon-Intestinal Hypoperi-  
stalsis syndrome, a very rare cause  
of intestinal obstruction. So far, less  
than three hundred cases have been  
reported in the literature. The prog-  
nosis of this syndrome is generally  
poor with most affected children  
dying in the neonatal period or in-  
obstruction is estimated at about  
one in 1500 live births. The cause  
) Brucknerova I,  
Zikavska T  
of obstruction can be extrinsic or  
Cervenova O  
intrinsic. Atresia is quite common  
Department of Paediatrics, Faculty  
of Medicine, Comenius University,  
Bratislava, Slovak republic  
Limbova 1, 833 40 Bratislava,  
Slovak republic  
in the anorectal region, while  
atresia of the stomach occurs  
rarely. Colonic atresia is a rare  
condition5 of bowel obstruction in  
neonates. Membranous or com-  
plete obstruction may be present in  
the small intestine and may affect  
multiple sites. Stenosis may result  
from extrinsic or intrinsic fac-  
Vidiscak M  
Hustavova L  
Department of Pediatric Surgery,  
Slovak Medical University,  
Bratislava, Slovak Republic  
tors. It arises from the failure of  
physiological rotation or fixation of  
the intestine in utero. Malrotation is  
one of the most serious cases, when  
there is incomplete rotation of the  
intestine into flexura duodenoje-  
junalis or incomplete rotation of the  
caecum. Duodenal obstruction may  
also result when adhesion bands of  
Ladd straps dow1 n the second part of  
the duodenum.  
Intestinal obstruction is a serious  
and life threatening condition. It  
may be explained by gross anatomi-  
cal, histological or other abnormali-1  
ties affecting the gut of the fetus.  
Differential diagnosis may also take  
into account various anatomical,  
histological, or other abnormalities  
that m1 ay result in the obstruction of  
gut. The incidence of intestinal  
The second group of causes of  
bowel obstruction in the newborn  
consists of functional intestinal ob-  
structions. It develops due to de-  
fects of bowel inervation and differ-  
entiation of ganglion cells. It in-  
cludes small left colon syndrome or  
neuronal intestinal dysplasia type A  
and ne6uronal intestinal dysplasia  
type B.  
Case report  
bile stained vomitus. She did not pass meconium within  
48 hours. Abdominal ultrasound examination confirmed  
The authors present the case of a female newborn of  
third pregnancy order. At the 30th gestational week,  
ultrasonography showed cystic formation in the abdo-  
methn. The patient was born by Caesarean section in the  
mild dilatation of renal pelvis on the left side and an  
extremely dilated urine bladder (8x10cm). Foley cathe-  
ter was inserted to decompress the urinary bladder, re-  
duce abdominal distension and prevent vesicoureteral  
week of gestation with a weight of 3350 grams  
corresponding to more than the 95th percentile) and a  
length of 50 centimeters. Apgar score was 10/10.  
On the second day of life, abdominal distension and a  
palpable mass were observed. The patient had recurrent  
Plain radiography showed features of intestinal obstruc-  
tion (figure 1) while contrast enema identified a micro-  
colon (figure 2). These findings were confirmed at  
surgery. Findings at surgery also included hyperfixation  
of duodenum was found in the duodenojejunal region,  
mesenterium commune and volvulus. Distal chimney  
end-to-side ileostomy was performed.  
erature in 1976 in five female infants. Patients had ab-  
dominal distension, intestinal obstruction, dilated small  
intestine and microcolon. A total number of 277 cases  
had so far been reported in literature. The pathogenesis  
Post-operatively, intestinal obstruction recurred necessi-  
tating repeat laparotomy. During the second laparotomy  
surgeons found a huge urinary bladder (megacystis)  
which they attributed to Berdon’s syndrome. The earlier  
distal chimney ileostomy was revised and separate ori-  
fices created. This time, samples were taken for histo-  
logical examination from terminal ileum.  
of the MMIH syndrome is unknown. It is assumed that  
the primary event is an intramural inflammatory process  
with secondary impairment of digestive and urinary  
function, followed by hypoperistalsis and bladder dis-  
Histological examination confirmed vacuolar degenera-  
tive changes in smooth muscle cells, with excess amount  
of connective tissue: nerve cells may be present in both  
Fig 1  
the dilated bowel as well as in microcolon. In our pa-  
tient hypoplasia of the smooth muscle layers and agan-  
glionosis of both nervous plexi of the small intestine  
were confirmed.  
Intestinal nervous system of newborn is of-  
ten immature and develops after birth. There are gan-  
glion cells in different stages of morphological and func-  
tional maturation. A similar1 case of aganglionosis is  
described by Chamyan et al in 2001 in a patient with  
trisomy of 18. Genetic testing in our patient confirmed a  
female karyotype 46, XX. Vezina et al in 1979  
Fig 2  
reported the case of a patient with histological examina-  
tion showing focal areas without ganglion cells and  
other areas with an apparent increase in mature ganglion  
cells. Couper et al in 1991 presented the case of a child  
who had MMIH syndrome multiple cardiac rhabdomyo-  
mata concurrently. The authors therefore commented on  
the need to exclude tuberous sclerosis in these patients,  
which are often frequently associated with it.  
Affected newborns are usually born prematurely but  
their weight is often above-average for the given gesta-  
tional age. Our patient's weight at birth was above the  
5th percentile for gestational age.  
Postoperatively, the baby was offered minimal enteral  
feeds consisting of elemental infant formula based on  
free amino acids. However, the feeds were not tolerated  
as the baby was vomiting repeatedly. Consequently a  
third laparotomy was performed during which adhesio-  
lysis was done and full thickness biopsies of the small  
and large bowel and also urinary bladder were taken.  
Biopsy from the gut confirmed hypoplasia of individual  
smooth muscle layers of the small intestine and agan-  
glionosis of both nervous plexi of the small intes-  
tine. Cytogenetic examination confirmed female karyo-  
type 46, XXnd.  
Megacystis-microcolon-hypoperistalsis syndrome is an  
autosomal recessive disorder with the evidence of con-  
sanguinity, wi1th1 unknown pathogenesis whose genes  
map to 15q24. There is no effective treatment as nei-  
ther surgery nor medical treatment proves successful.  
Experimentally, the detailed analysis of 15q24 gene in  
homozygous mice confirmed the failure of this gene.  
Mice in which the alfa3 subunit or both the beta2 and  
beta4 subunits of neuronal nicotinic acetylcholine recep-  
tors were lacking had features in comparable to those of  
megacystis-microcolon-intestinal hypoperistalsis syn-  
drome; ho6wever high frequency of polymorphism was  
On the 32 day of hospitalization, the baby developed  
septicaemia (Klebsiella pneumoniae). Despite compre-  
hensive treatment, the child died as a result of multi-  
detected. Some patients survived in response to mul-  
organ failure in the 41 day of life.  
tivisceral transplant surgery; however all of them toler-  
ated enteral17f,e1e8dings and showed appropriate gastric  
obligatory due to persistent bladder dysfunction.  
Intermittent catheterisation 8remains  
Prenatal diagnosis is possible in the second trimester of  
pregnancy with the finding of enormously enlarged  
fetal bladder and1s2,u1b9sequently in t2h0e third trimester by  
Penman et al in 1989 presented a  
Megacystis-microcolon-hypoperistalsis syndrome  
MMIH syndrome) is a rare cause of neonatal intestinal  
obstruction in neonatal age. It was first described in lit-  
case report on congenital hydronephrosis and bladder  
dilatation without an organic cause of obstruction. In the  
case of our patient, symptoms were mainly observed in  
the digestive system but a permanent urinary catheter  
was introduced to prevent vesicoureteral reflux.  
Megacystis-microcolon-intestinal hypoperistalsis  
syndrome is a rare cause of neonatal intestinal obstruc-  
tion. It may be suspected prenatally on the basis of indi-  
rect findings like polyhydramnios and dilatation of the  
bladder. MMIH syndrome is an autosomal recessive  
disorder of unknown pathogenesis, which is probably  
due to the failure of the gene for nicotinic-acetylcholine  
receptors localized on chromozome 15.  
Despite prenatal diagnosis and comprehensive care of  
the newborn, it is not possible to prevent the progressive  
changes that occur in the intestinal wall and bladder.  
The prognosis is generally poor and most children die in  
the neonatal period due to progressive changes in the  
intestinal wall and associated complications. Oka et al  
in 2008 referred to the case of a patient, who lived  
nearly two years with frequent episodes of infection and  
sepsis. At one and half years of life, the child was pre-  
pared for liver and gut transplant. The child went  
through a turbulent period of long-term parenteral nutri-  
tion with multiple complications, including pulmonary  
edema, portal hypertension with repeated sclerotherapy  
of esophageal varices, liver failure and subsequent  
multiple organ failure.  
There is no definitive treatment for this disease. Patients  
die due to progressive and irreversible changes in the  
intestinal wall and bladder. Despite it being a rare cause  
of intestinal obstruction, it is necessary to consider it in  
terms of differential diagnosis of intestinal obstruction  
and pathology of urinary bladder in the newborn.  
Conflict of Interest : None  
Funding : None  
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