Familial presacral masses: Screening pitfalls

Background/Purpose: Anterior sacral meningocele (ASM) and presacral teratom a (PT) are related malformations. Both can have familial occurrence. Surgic al treatment of occult cases is essential. Hence, it is important to screen the asymptomatic relatives. Plain radiograph of the sacrum to look for any bony abnormalities is the usual accepted screening modality. The authors r eport ASM and PT in siblings (with positive family history) with no sacroco ccygeal bony abnormality on imaging. Both the siblings had presacral mass o n imaging. Methods: The medical records of 2 siblings with ASM and PT were reviewed fo r the clinical presentation, diagnostic workup, and family history. Results: One sibling was symptomatic, whereas the other was completely asym ptomatic. A family history of sacral bony abnormalities and anterior mening oceles was present in father, 2 paternal cousins, paternal uncle, paternal aunt, paternal grandmother, and paternal grand uncle. Conclusions: These case reports suggest that imaging for screening for ASM and PT should be directed at identifying the presacral mass rather than sac ral bony defect. Hence, computed tomography or magnetic resonance imaging l ooking for presacral mass rather than plain radiograph should be the screen ing modality. Copyright (C) 2001 by W.B. Saunders Company.