Urogenital tract anomalies in children with congenital anorectal malformation

The term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find an effective treatment. In the days of Assurbanipal, king of Assyria from 668 to 627 B.C., the library of Ninive contained a cuneiform tablet with a text about a child born without an anus (Scharli 1978, van Putten 1969). The ancient Greek, Roman and Arabic physicians were familiar with the imperforate anus as well. They considered it a 'lusus naturae', the treatment of which was beyond their abilities. Paul of Aegina, a Byzantine physician (A.D. 625-690), performed the first recorded treatment of a child with imperforate anus by making a blind plunge with a bistoury into the perineum as far as the rectum and maintaining the opening by frequent dilatation. The next thousand years this blind method remained the only treatment for the malformation. Whenever a child survived this operation, complications such as perforations, infections, development of fistula, and stenosis of the newly made opening often occurred. Ever since the 18th century new ideas were suggested and new methods of treatment introduced. An extensive study of the embryology, pathology, and treatment of congenital malformations of anus and rectum was published in 1860 by Bodenhamer. He described nine 'species' of malformation, mainly on the basis of anatomical variations found in abductions. Bodenhamer described some anomalies of the urogenital tract and warned against possible damage of the bladder or urethra caused by surgical treatment of the anorectal malformation (Bodenhamer 1860). Various classification systems for the congenital anorectal malformations have been proposed. In general a distinction is made into 'high', or supralevator, and 'low', or infralevator, anorectal malformations, a distinction based on the position of the 'blind-ending' anorectum relative to the pelvic floor. High and low malformations are treated in different ways. Ever since Bodenhamer, numerous theories about the pathogenesis of imperforate anus have been developed. At present the congenital anorectal malformations are considered to be caused by impaired development of the cloacal plate and its surrounding structures (van der Putte and Neeteson 1984). Although in the past the literature mainly focussed on the study and the treatment of the congenital anorectal malformation itself, in the last few decades attention has also been paid to associated anomalies in other organ systems. Combinations of anomalies are described as V A(C)TER(L) association (V = vascular or vertebral, A = anorectal, C = cardiac, TE = tracheoesophageal, R = renal, and L = limb abnormalities (Quan and Smith 1973, Kaufman 1973, Barnes and Smith 1978), caudal regression syndrome (Duhamel 1961), caudal mesodermal pattern of anomalies (Kallen and Winberg 197 4 ), or axial mesodermal dysplasia syndrome (Russel et al. 1981). Of the anomalies that may present in combination with the congenital anorectal malformation, those of the urogenital tract occur most frequently (Moore and Lawrence 1952, Hasse 1976, Hoekstra et al. 1983).