ASSOCIATION OF VISCERAL MYOPATHY WITH VESICOINTESTINAL FISSURE

Abstract

Vesico-intestinal fissure (extrophy of the cloaca, OEIS complex) is a pattern of multiple malformations including extrophy of the bladder with epispadias, extrophy of the cecum with rudimentary colon and imperforate anus. Other commonly associated anomalies include omphalocele, intestinal duplication, meningomylocele and hydronephrosis. Current pathogenetic theories postulate fusion of genital tubercles caudal to the normal position leading to interruption of migration of the infra-umbilical mesoderm with secondary abdominal wall rupture. Patients with vesico-intestinal fissure have a poor prognosis. Abnormal bowel motility with malabsorption often contribute to death. Histopathologic observation of a visceral myopathy suggestive of an embryologic insult to smooth muscle development in a recent patient with a negative family history for familial visceral myopathy, prompted review of all cases of vesicointestinal fissure since 1966 at this institution. Results suggest abnormal morphogenesis of intestinal smooth muscle may be an important part of the pathogenetic sequence. This is consistent with an early insult to the lateral plate mesoderm from which arise the intra-embryonic splanchopleure and the intra-embryonic somatopleure. These structures form the smooth muscle of the GI tract and the ventral body wall, respectively. Intestinal biopsy and electrophysiologic motility studies may help to define the extent of such defects and contribute to the successful clinical management of these patients.