Familial presacral masses: Screening pitfalls.

BACKGROUND/PURPOSE: Anterior sacral meningocele (ASM) and presacral teratoma (PT) are related malformations. Both can have familial occurrence. Surgical 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 report ASM and PT in siblings (with positive family history) with no sacrococcygeal bony abnormality on imaging. Both the siblings had presacral mass on imaging.

METHODS

The medical records of 2 siblings with ASM and PT were reviewed for the clinical presentation, diagnostic workup, and family history.

RESULTS

One sibling was symptomatic, whereas the other was completely asymptomatic. A family history of sacral bony abnormalities and anterior meningoceles 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 sacral bony defect. Hence, computed tomography or magnetic resonance imaging looking for presacral mass rather than plain radiograph should be the screening modality. J Pediatr Surg 36:1841-1844.