Familial triad of anorectal, sacrococcygeal, and presacral anomalies that includes sacrococcygeal teratomas

Abstract

We present two Australian families with the triad of anorectal, sacrococcygeal, and presacral anomalies. In one family four members had sacral deformities, three of which were associated with presacral masses and anal stenosis. The presacral masses were: one meningocoele combined with a teratoma; one teratoma; and the third remains undiagnosed and unresected at the patient's request. In the second family, one child had an infected presacral teratoma with a small sacral defect and the father had a similar sacral defect with computed tomographic evidence of a presacral meningocoele and teratoma. The presence of anal stenosis and constipation with a sacral defect should raise the possibility of a presacral mass. The mass may take the form of a meningocoele, teratoma, enteric cyst, or any combination of these. Once detected, other family members should be investigated.