Volume 25, Issue 110, April 2021

Megacystis microcolon intestinal hypoperistalsis syndrome in two sisters with a rare disease gene

Mohammad S Mohammad Alnoaiji^1♦, Asmaa S Ghmaird², Tahani N Alrashidi³, Khaled I Alqoaer⁴, Rafik W Abdelmalek⁴, Eid H Alshahrani⁵

¹Pediatric surgery department, King Salman Armed Forces Hospital, Tabuk, Saudi Arabia
²Pediatric department, Faculty of Medicine, University of Tabuk, Tabuk, Saudi Arabia
³MBBS, University of Tabuk, Tabuk, Saudi Arabia
⁴Pediatric department, King Salman Armed Forces Hospital, Tabuk, Saudi Arabia
⁵Medical Intern, University of Bisha, Bisha, Saudi Arabia

^♦Corresponding author
Consultant pediatric surgeon, head division of pediatric surgery department, King Salman Armed Forces Hospital, Tabuk, Saudi Arabia; Email: drmsnoaiji@gmail.com

ABSTRACT

Introduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is an inherited autosomal recessive condition (AR). MMIHS is a rare disease that is characterized by functional urinary bladder obstruction and functional intestinal obstruction. MMIHS is a fatal congenital disease with a poor prognosis. Case presentation: We report the cases of two MMIHS patients who were referred to us due to esophageal perforation in the first patient and prenatal distended urinary bladder and stomach and abdominal wall weakness in the second patient. Conclusion: MMIHS is a rare inheritance syndrome that is associated with morbidity and mortality, and patients usually die within the first year of life.

Keywords: MMIHS, Berdon Syndrome, Distended Urinary Bladder

Medical Science, 2021, 25(110), 954-958

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