Berdon syndrome: clinical case report in Ecuador

Abstract

Introduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) or Berdon syndrome is a severe autosomal recessive congenital disorder characterized by functional bowel obstruction, bladder disten-sion or urinary retention and intestinal hypoperistalsis from birth in addition to other alterations. It has a very low incidence and life expectancy barely exceeds a year with a poor quality and usually dying due to septic processes. For his diagnosis the Radiologist plays a fundamental role, since the radiological tests are mostly pathognomonic. In the management of these patients, nutritional support is fundamental, which is often based on parenteral nutrition for long periods of time. In spite of the improvement in the assistance to these patients, this syndrome continues presenting a high morbidity and mortality being the intestinal transplant a therapeutic alternative.

Objective: To describe a clinical case of Berdon syndrome or Megacystis microcolon intestinal hypoperistal-sis syndrome, presented in EcuadorMaterial and methods: Retrospective descriptive study, clinical case presentation

Results: The following is a clinical case of a female patient who presented poor oral tolerance, bloating, and low urinary output from birth; radiological and clinically she was diagnosed with Syndrome and Berdon, she received intrahospital parenteral nutrition without good weight gain, poor quality of life and she dies at two months due to sepsis.

Conclusions: Berdon syndrome is a rare disease with low incidence that presents high morbidity and mortality despite the advances in its management