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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Neonatal diagnosis of a presacral mass in the presence of congenital anal stenosis and partial sacral agenesis.

The simultaneous presentation of clinically symptomatic anal anomalies and roentgenographically demonstrated sacral dysgenesis should alert the pediatric surgeon to investigate for the presence of a presacral malformation. We report on such a case to illustrate a new radiographic technique that facilitates diagnosis and management of complex congenital malformations. A 1-day-old white boy presented with anal stenosis, a scimitar-shaped sacrum, and large anterior and posterior meningoceles. In addition, a distinct presacral tumor--a teratoma--was identified. These malformations were identified utilizing metrizamide myelography and three-dimensional reconstruction computed tomography (CT) scanning. The meningoceles and a tethered cord were successfully corrected utilizing a posterior approach. A diverting colostomy was performed and subsequently taken down. Two years postoperatively, the patient continues to do well. This case demonstrates that this triad of anomalies (presacral mass, sacral dysgenesis, and anorectal malformation), once considered, can be safely detected with modern radiologic techniques and can be expeditiously corrected during infancy before further deterioration occurs.[1]

References

  1. Neonatal diagnosis of a presacral mass in the presence of congenital anal stenosis and partial sacral agenesis. Brem, H., Beaver, B.L., Colombani, P.M., Zinreich, J., Scherer, L.R., Carson, B.S., Haller, J.A. J. Pediatr. Surg. (1989) [Pubmed]
 
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