Diagnosis of megacystis-microcolon intestinal hypoperistalsis syndrome with aplastic desmosis in adulthood: a case report.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis -microcolon intestinal hypoperistalsis syndrome (MMHIS or Berdon syndrome ) is an autosomal-recessive disorder characterized by chronic intestinal obstruction . Although the disease is often diagnosed in female infants we describe a man with late diagnosis in adulthood . Our patient presented soon after birth with intestinal obstruction and developed short bowel syndrome after multiple intestinal resections . Of note , the connective tissue net within the muscle layers of the intestinal wall was absent ('aplastic desmosis '). This case illustrates the variable clinical features of MMHIS and aplastic desmosis , which might delay the correct diagnosis of a severe disorder .