Saudi Journal of Gastroenterology
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CASE REPORT Table of Contents   
Year : 1995  |  Volume : 1  |  Issue : 3  |  Page : 180-183
Megacystis-microcolon-intestinal hypoperistalsis syndrome


1 Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
2 Department of Surgery, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

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How to cite this article:
Nazer H, Rejjal A, Abu-Osba Y, Rabeeah A, Ahmed S. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Saudi J Gastroenterol 1995;1:180-3

How to cite this URL:
Nazer H, Rejjal A, Abu-Osba Y, Rabeeah A, Ahmed S. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Saudi J Gastroenterol [serial online] 1995 [cited 2019 Jul 17];1:180-3. Available from: http://www.saudijgastro.com/text.asp?1995/1/3/180/34057


Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS),is a rare autosomal recessive disorder that was first described in 1976 by Berdon et al in five newborn girls [1]. Up to 1992, 59 cases (46 females and 13 males) were reported in the lit­erature, with a poor outcome [2]. The etiology of this syndrome remains unknown. but literature strongly suggests an autosomal recessive pattern of inheritance with reports of siblings similarly affected [1],[3],[4],[5]. We report, to the best of our knowledge, the first case of MMIHS in Saudi Arabia. The aim of this report is to increase awareness on the existence of this disorder in the developing world where a high degree of consan­guineous marriages prevail.


   Case Report Top


The patient is a preterm female infant, who was spontaneously delivered at 27 weeks gestation to a 24-year-old mother gravida III, with a birth weight of 1.8 kgs. Ultrasound examination at 24­week-gestation revealed bilateral renal pelvis and hugely-distended urinary bladder.

Clinical examination revealed abdominal dis­tention with a palpable mass. Ultrasound exami­nation identified the mass as distended bladder with bilateral hydronephrosis [Figure - 1],[Figure - 2],[Figure - 3]. Upper gastrointestinal series demonstrated a normal­looking esophagus with mildly-dilated stomach and delayed passage of the contrast through the intestine. Barium enema showed a small sigmoid, descending and transverse colon [Figure - 4]. The barium remained in the bowel for months after the examination which supported the association of an intestinal hypomotility status. A voiding cys­tourethrogram confirmed the presence of a hugely- distended bladder[Figure - 5].

A renal scan showed bilateral renal impairment more on the left side than on the right. Examina­tion under anesthesia did not reveal any congeni­tal or obstructive uropathy. The problem of renal insufficiency resolved gradually.

The baby was kept on total parenteral nutrition with nothing by mouth for 2 months. All attempts for enteral feeding failed. Ileostomy was per­formed to commence continuous nasogastric feeding, but nothing came out of the ileostomy for almost a month after which, it started to function.

Ganglia cells were present in all biopsies taken from the appendix as well as from the ileum. The barium which had accumulated in the ileum was cleared through the ileostomy site.

During the course of hospitalization, the baby suffered frequent episodes of sepsis mainly due to central line infections requiring intensive paren­teral antibiotics.

Attempts to continue on oral feeding were also been complicated with repeated, occasionally cof­fee-ground vomiting. Ranitidine and cisapride were started in an attempt to minimize vomiting and improve outcome of oral feeding. The baby could retain just over half of its feeds of pregomin milk formula and was later able to tolerate bolus feeds thickened with cereal. The condition of the baby improved on bolus feeding. Total parenteral nutrition was discontinued because of recurrent central line infections and high liver enzymes. The baby started to tolerate oral feeds even better. Weight increased to 3 kgs at the age of 4 months.

It was planned to recommence total parenteral nutrition to encourage more weight gain, but the family refused and requested to take the baby home on enteral feeding. The baby died at home at the age of 7 months, probably with aspiration pneumonia.


   Discussion Top


Our case fulfills the criteria originally defined by Berdon et al [1] for the diagnosis of MMIHS i.e. abdominal distension non-obstructed blad­der, microcolon, and normal ganglia cells distri­bution in the intestine. The abdominal distention results primarily from distension of the urinary bladder. The syndrome is also characterized by dilated proximal small bowel, narrowed distal bowel, malrotated microcolon and absent or inef­fective peristalsis [2],[6]. No specific mechanical obstruction has been demonstrated in either the genitourinary or gastrointestinal system [7]. Rec­tal biopsy is usually obtained to rule out Hirschsprung's disease. It is generally agreed that ganglion cells and nerve fibers in the myenteric and submucous plexuses in this syndrome are nor­mal [6],[8].

It has been suggested through ultrastructural findings that a degenerative disease of smooth muscle may be the cause of MMIHS. However, up to the present the exact etiology of this syndrome remains unknown' [8]. The disease which is post­ulated to be inherited in an autosomal recessive fashion occurs more commonly among female infants [1],[2],[4],[5],[8]. The condition may be sus­pected prenatally with the presence of prominent renal pelvis and bilateral hydronephrosis [8],[9].

Prenatal sonographic features of MMIHS have been limited, as in our case, to the urinary system with massively-distended bladder and significant bilateral hydronephrosis [2],[7]. Bladder dilatation on fetal ultrasound is a reliable sign for prenatal diagnosis prior to 25 weeks gestation [10],[11],[12]. Carlsson et al[9] reported the finding of an enlarged bladder as early as 16 weeks gestation and hydronephrosis at 20 weeks gestation. Signif­icant bladder enlargement is not usually mani­fested till after 25 weeks gestation. Our patient had a significant bladder enlargement at 25 weeks of gestation. The bilateral enlargement of the renal pelvis seen in our case, may represent the earliest prenatally-detectable observation in MMIHS and may be noted at 21 weeks gestation [8]. Voiding cystourethrogram is recognized to be helpful in ruling out urethral obstruction as it did in our case.

The syndrome is generally incompatible with long-term survival, and death usually occurs in infancy [6],[9],[13]. Intrauterine death has also been reported. Out of a total of 59 cases reported with MMIHS by the year 1992, 51 (87%) died [2].

Young et al [14] reported in 1981 the first female with MMIHS living at 14 years of age, while Gillis and Grantmyre in 1985 reported the first male sur­vivor at the age of 4 years. It has been suggested that the disease may be slowly reversible with gradual correction of the neuromuscular dysfunc­tion [15].

With the increasing recognition of more survi­vals among males, and more so among females with MMIHS, it is anticipated that patients will gain the benefits of various forms of intestinal diversions and bladder decompression to allow the dilated upper urinary tracts to recover. Improvement of the nutritional status of affected babies and effective management of sepsis may improve survival until such time when their gut starts to function gradually and enable these patients to tolerate oral feeds.

 
   References Top

1.Berdon WE, Baker DH, Blanc WA, Gay B, Santuli TV, Donovan C. Megacystis-microcolon-intestinal hypoperi­stalsis syndrome: a new cause of intestinal obstruction in the newborn - Report of radiological findings in five new­born girls. AM J Roentgenol 1976;126:957-64.  Back to cited text no. 1    
2.Puri P, Miyoko T. Megacystis-microcolon-intestinal hypoperistalsis syndrome (neonatal hollow visceral myopathy). Pediatr Surg Int 1992;7:18-22.  Back to cited text no. 2    
3.Anneren G, Meurling S, Olsen L. Megacystis-micro­colon- intestinal hypoperistalsis syndrome (MMIHS): an autosomal recessive disorder - Clinical reports and review of the literature. Am J Med Genet, 1991; 41:251-­4.  Back to cited text no. 3    
4.Winter RM, Knowles SAS. Megacystis-microcolon­intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet 1986;23:360-2.  Back to cited text no. 4    
5.Farrell SA: Intrauterine death in megacystis-micro­colon- intestinal hypoperistalsis syndrome. J Med Genet 1988;25:350-1.  Back to cited text no. 5    
6.Puri P, Lake BD, Gorman F, O'Donnel B, Nixon HH. Megacystis-microcolon-intestinal hypoperistalsis syn­drome: a visceral myopathy. J Pediatr Surg 1983;18:64­9.  Back to cited text no. 6    
7.Vintzileos AM, Eisenfeld LI, Herson VC, Ingardia CJ, Feinstein SJ, Lodeiro JG. Megacystis-microcolon-intes­tinal hypoperistalsis syndrome: Prenatal sonographic findings and. review of the literature. AM J Prenatal 1986;3:297-302.  Back to cited text no. 7    
8.Garber A, Shohat M, Sarti D. Megacystis-microcolon­intestinal hypoperistalsis syndrome in two male siblings. Prenatal diagnosis 1990;10:377-87.  Back to cited text no. 8  [PUBMED]  
9.Carlsson SA, Hokegard KH, Mattsson LA. Megacystis­microcolon-intestinal hypoperistalsis syndrome: Antenatal appearance in two cases. Acta Obstet Gynecol Scand 1992;71:645-8.  Back to cited text no. 9    
10.Krook PM. Megacystis-microcolon-intestinal hypoperis­talsis syndrome in a male infant. Radiology 1980;136:649-50.  Back to cited text no. 10  [PUBMED]  [FULLTEXT]
11.Perman DG, Lilford. The megacystis-nicrocolon-intes­tinal hypoperistalsis syndrome: a fatal autosomal reces­sive condition. J Med Genet 1989;26:66-7.  Back to cited text no. 11    
12.Young ID, McKeever PA, Brown LA, Lang GD. Pre­natal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet 1989;26:403-6.  Back to cited text no. 12  [PUBMED]  
13.Couper RTL, Byard RW, Cutz E, Stringer DA, Durie PR. Cardiac rhabdomyomata and megacystis-micro­colon-intestinal hypoperistalsis syndrome. J Med Genet 1991;28:274-6.  Back to cited text no. 13    
14.Young LW, Yunis EJ, Girdany BM, Sieber WK. Megacystis- microcolon-hypoperistalsis syndrome: addi­tional clinical, radiologic, surgical and histopathologic aspects. Am J Roentegol 1981;137:749-55.  Back to cited text no. 14    
15.Gillis DA, Grantmyre EB. Megacystis-microcolon-intes­tinal hypoperistalsis syndrome: survival of a male infant. J Pediatr Surg 1985;20:279-81.  Back to cited text no. 15  [PUBMED]  [FULLTEXT]

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Correspondence Address:
H Nazer
Department of Pediatrics (MBC 58) King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 1121
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


PMID: 19864852

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