Diagnosis of megacystis-microcolon intestinal hypoperistalsis syndrome with aplastic desmosis in adulthood: a case report.
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.
Trebicka
Jonel
J
Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Bonn, Germany. jonel.trebicka@ukb.uni-bonn.de
Biecker
Erwin
E
Gruenhage
Frank
F
Stolte
Manfred
M
Meier-Ruge
William A
WA
Sauerbruch
Tilman
T
Lammert
Frank
F
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000601:surgery / Q000628:therapy; D000328:Adult; D003108:Colonic Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000601:surgery; D003238:Connective Tissue / Q000002:abnormalities*; D004750:Enteral Nutrition; D006801:Humans; D007415:Intestinal Obstruction / Q000000981:diagnostic imaging / Q000209:etiology* / Q000601:surgery; D008297:Male; D010528:Peristalsis; D012778:Short Bowel Syndrome / Q000209:etiology*; D013577:Syndrome; D016896:Treatment Outcome; D014463:Ultrasonography