Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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By nollik on
Author(s)
Tatiana Oks, Gabriella Ciceu, Norman Loberant
Department of Radiology
Western Galilee Hospital, Nahariya, Israel
Images

Figure Legends : 

Figure 1a: Abdominal radiograph at age 2 hours shows gasless distended abdomen.

Figure 1b:  Following urinary bladder catheterization. There is marked distension of the stomach.

Figures 2a and 2b: Ultrasound images of both kidneys show severe bilateral hydronephrosis

Figure 3: Pelvic ultrasound revealed dilated bladder and bilateral ureteral dilatation.

Figures 4a and 4b: Coronal reformatted abdominal CT shows a small colon with partial malrotation with high location of the cecum.

Case Description

Clinical History: 

A newborn female with bilateral hydronephrosis and huge urinary bladder discovered on prenatal ultrasound.

Diagnosis: 

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Discussion: 

Megacystis-microcolon hypoperistalsis syndrome (MMIHS) was first described in 1974 by Berdon in 5 female infants, 2 of whom were sisters [1].MMIHS is a rare congenital disease with high mortality rate[2].

MMIHS has been found predominantly in females with an approximate 4:1 female to male ratio [3,4]. It is characterized by abdominal distention caused by a grossly enlarged, non-obstructed bladder (megacystis). The small intestine is malrotated and often short and distended followed by a hypoperistaltic microcolon.

 MMIHS presents clinically at birth with bilious vomiting, an overdistended abdomen, and absent or decreased bowel sounds. Further findings include a failure to feed or to pass stool despite many attempts to stimulate bowel activity with various cathartic medications.

 The cause and pathogenesis of this disorder are not fully understood, and MMIHS is not a form of intestinal pseudo-obstruction [7,8]. Histologic examination has frequently revealed findings consistent with smooth muscle intestinal myopathy [3,7]. These findings include extensive transmural fibrosis, thinning of the longitudinal smooth muscle layer, connective tissue proliferation within intestinal smooth muscle and absent immunoreactivity in the longitudinal layer [7,8].  The detrusor muscle in MMIHS is strikingly abnormal and is the likely cause of voiding dysfunction in the affected patients [9].  The affected patients are unable to void spontaneously [10]. Cystostomy is always required.

The prognosis is poor and treatment has been shown to be ineffective. MMIHS is a lethal syndrome in the first years of life and there are no reported cases of long term survivors.

References / Suggested Reading: 

1. Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR 1976, 126:957-64. 

2.  Loinaz C, Rodriguez MM, Kato T, et al. Intestinal and multivisceral transplantation in children with severe gastrointestinal dysmotility, Journal of Pediatric Surgery 2005, 40:1598–1604.

 3. Granata C, Puri P. Megacystis-microcolon-intestinal-hypoperistalsis syndrome. J Pediatr Gastroenterol Nutr. 1997, 25:12-19

 4. Steiner SJ, Steven J, Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) J Pediatr Gastroenterol Nutr 2004, 39:301.

 5. Roy A, Bharucha H, Nevin N, et al. Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy. Clin Genet 1980;18:291-297.

 6. Krook P. Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant. Radiology 1980; 136:649-650.

 7. Srikanth MS, Ford EG, Isaacs H Jr, Mahour GH. Megacystis-microcolon-intestinal hypoperistalsis syndrome: Late sequelae and possible pathogenesis. J Ped Surg. 1993 28: 957-59.

 8. Rolle U, O'Brian S, Pearl RH, Puri P. Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy. Pediatr Surg Int. 2002 18:2-5.

 9. Rolle U, Puri P. Structural basis of voiding dysfunction in megacystis microcolon intestinal hypoperistalsis syndrome. Journal of Pediatric Urology 2006, 2:277-284

10. Ghavamian R, Wilcox DT, Duffy PG, Milla PJ. The urological manifestations of hollow visceral myopathy in children. J Urol 1997;158:1286-1290.

 

Citation:

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Tatiana Oks, Gabriella Ciceu, Norman Loberant, Imaging Science Today, 2010, 1866.

Comments

jdogra's picture
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Joined: 05/23/2007

Thank you for submitting an excellent teaching case.

This is also known as Berdon syndrome The belly in these patients also has a wrinkled appearance resembling Prune belly.  

Dr. Vikram Singh Dogra

Professor of Radiology, Urology & BME
Associate Chair for Education and Research.
Department of Imaging Sciences
University of Rochester School of Medicine

anshunph's picture
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Joined: 01/23/2010

Great case.. 

anshu mahajan

daniel's picture
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Joined: 07/14/2010

Thanks for sharing this very interesting case, the images are very descriptive.