Anorectal malformations associated with a presacral tumor and sacral defect

Abstract

The triad of anorectal malformation, presacral mass, and sacral bony defect is quite rare. During the past 18 years, five patients with this triad were treated in our institutions. Four had covered anal or anorectal stenosis, while one infant had anorectal agenesis. There was a central defect of the sacral bone in three and sacral hemivertebrae in two patients. An additional case that had an intact sacrum but was otherwise associated with the same anomalies is also reported. In the literature, we could find 51 cases (including 5 cases of our own) that fall under this symptom complex. All patients had a presacral tumor, the commonest being teratomas and meningoceles (20 cases each). Anal or anorectal stenoses were most frequently encountered (46 cases), while malformations such as anorectal agenesis (3) or anorectal stenosis plus rectovaginal fistula (2) were seen less frequently. We therefore contend that the spectrum of this symptom complex is broader than was previously considered. Among these patients, constipation was the most common presenting symptom. Barium enema and computer tomographic studies were helpful in identifying the presence, extent, and nature of the mass. The embryogenesis is discussed, reviewing the clinical and pathological characteristics of these patients.