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Megacystis and megacolon in an infant with Ehlers-Danlos syndrome
1Department of Pediatrics, Saga Medical School, Japan.
Insights
A 14-month-old infant with Ehlers-Danlos syndrome experienced anuria due to bladder dilation. Treatment with a urinary catheter and glycerin enemas resolved symptoms, suggesting early diagnosis of megacystis and megacolon is crucial.
Area of Science:
- Pediatric Urology
- Gastroenterology
- Genetics
Background:
- Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders.
- Urinary bladder and gastrointestinal tract issues can manifest in infants with EDS.
- Anuria, or the absence of urine production, can be caused by bladder outlet obstruction.
Observation:
- A 14-month-old male infant diagnosed with Ehlers-Danlos syndrome presented with anuria.
- The infant exhibited an acutely dilated urinary bladder and megacolon, but no diverticula.
- Initial presentation suggested a significant obstruction impacting both urinary and gastrointestinal functions.
Findings:
- Intensive medical management, including a 2-month indwelling urinary catheter and 3-month daily glycerin enemas, was initiated.
- This treatment successfully decompressed the urinary bladder and colonic wall.
- All urological and gastrointestinal symptoms resolved following the treatment regimen.
Implications:
- Early diagnosis of congenital megacystis and megacolon in infants with EDS is critical.
- The findings suggest a potential link between extensive gastrointestinal and bladder wall distension and the later development of diverticula.
- This case highlights the importance of prompt intervention for urinary retention and constipation in infants with connective tissue disorders.
Abstract:
We report a 14 month old male infant with Ehlers-Danlos syndrome who became 'anuric' due to an acutely dilated urinary bladder. Although the patient was also found to have megacolon, no diverticulum was seen in his gastrointestinal tract or urinary bladder. In order to decompress the urinary bladder and colonic wall, we put an indwelling urinary catheter in place for 2 months, and carried out daily glycerin enema for 3 months. All urological and gastrointestinal symptoms subsided with this intensive medical treatment. The diagnosis of megacystis and megacolon was made very early in life for this patient. This may indicate that the striking extension of gastrointestinal and bladder wall may lead to the development of diverticula of gastrointestinal and urinary tracts in later life.