Imaging of megacystis-microcolon-intestinal hypoperistalsis syndrome before, during, and after the neonatal period: a pictorial review
Rekha Krishnasarma, Dhilip Andrew Maria Anthony Rayer, Asha Sarma, Sudha Singh, Nakul Reddy, Alexandra Foust, Lindsey Johnstone, Somya Singh, Elizabeth Snyder
TL;DR
This paper reviews the imaging features of a rare genetic disorder affecting bladder and bowel function, from before birth through childhood, to help with diagnosis and management.
Contribution
The paper provides a pictorial review of imaging findings across different life stages in confirmed cases of MMIHS.
Findings
Imaging helps distinguish mechanical obstruction from dysmotility in MMIHS patients.
Radiologists play a key role in identifying complications like chronic kidney disease and TPN-related liver disease.
Early diagnosis and management improve survival and quality of life in MMIHS.
Abstract
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare genetic congenital disorder of impaired smooth muscle contractility, resulting in functional obstruction of the bladder and bowel. Historically associated with a poor prognosis, recent advances in the use of total parenteral nutrition (TPN), intestinal rehabilitation, and multi-visceral transplantation have led to improvements in survival in patients with MMIHS, with patients now living into the second decade of life. The radiologist plays a key role in the initial workup of these patients and is often the first to suggest the diagnosis. Furthermore, with patients living longer, the radiologist’s role now includes the following: (1) identifying complications on follow-up imaging, such as distinguishing mechanical obstruction from dysmotility; (2) following findings of chronic…
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Taxonomy
TopicsPediatric Urology and Nephrology Studies · Gallbladder and Bile Duct Disorders · Pediatric Hepatobiliary Diseases and Treatments