CASE REPORT

Niger J Paed 2012; 39 (4): 202 - 205

Zikavska T

Unusual cause of neonatal intestinal

obstruction

Brucknerova I

Cervenova O

Vidiscak M

Hustavova L

DOI:http://dx.doi.org/10.4314/njp.v39i4,12

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-

fancy.

obstruction is estimated at about

one in 1500 live births. The cause

2

(

⁾Brucknerova I,

Zikavska T

of obstruction can be extrinsic or

3

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

4

rarely. Colonic atresia is a rare

condition₅of 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-

E-mail :zikavska@gmail.com

Vidiscak M

Hustavova L

Department of Pediatric Surgery,

Slovak Medical University,

Bratislava, Slovak Republic

4

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-

4

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-

me_t_hn. 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

reflux.

3

6

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

2

03

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

7

intestine and microcolon. A total number of 277 cases

8

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-

9

tension.

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

10

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-

6

tional maturation. A similar₁ case of aganglionosis is

1

described by Chamyan et al in 2001 in a patient with

trisomy of 18. Genetic testing in our patient confirmed a

1

2

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

1

3

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-

1

4

tional age. Our patient's weight at birth was above the

9

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, XX_n_d.

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-

1

5

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-

1

detected. Some patients survived in response to mul-

st

organ failure in the 41 day of life.

tivisceral transplant surgery; however all of them toler-

ated enteral₁₇f_,e₁e₈dings and showed appropriate gastric

emptying.

obligatory due to persistent bladder dysfunction.

Intermittent catheterisation₈remains

Discussion

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

polyhydramnios.

obstruction in neonatal age. It was first described in lit-

case report on congenital hydronephrosis and bladder

2

04

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.

Conclusion

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

1

9

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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