Presacral masses in children: presentation, aetiology and risk of malignancy

Colorectal Dis. 2011 Aug;13(8):930-4. doi: 10.1111/j.1463-1318.2010.02312.x. Epub 2010 May 17.

Abstract

Aim: The risk of malignant changes in presacral tumours in children was investigated in relation to age at diagnosis, type of presentation and origin of the tumour.

Method: A retrospective review was carried out in 17 patients surgically treated for congenital presacral masses over a 22-year period.

Results: Constipation was the main symptom in 14 (82%) of 17 patients. The lesions were evident on digital examination in 14 patients. Mature teratoma (n = 9, 64%) was the most common lesion, including three malignancies. Currarino syndrome was diagnosed in 10 (71%) patients. Two unclassified variant HLXB9 gene mutations were found in five (29%) patients who underwent genetic testing.

Conclusion: Congenital presacral tumours in children were mostly mature teratomas, either as sacrococcygeal teratomas or as part of the Currarino syndrome. The risk of malignancy in patients older than 1 year necessitates early surgical resection.

MeSH terms

  • Adult
  • Anal Canal / abnormalities
  • Anal Canal / pathology
  • Anal Canal / surgery
  • Child, Preschool
  • Constipation / etiology
  • Defecation
  • Digestive System Abnormalities / complications
  • Digestive System Abnormalities / pathology*
  • Digestive System Abnormalities / surgery*
  • Fecal Incontinence / etiology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Rectum / abnormalities
  • Rectum / pathology
  • Rectum / surgery
  • Retrospective Studies
  • Sacrococcygeal Region / pathology*
  • Sacrum / abnormalities
  • Sacrum / pathology
  • Sacrum / surgery
  • Syringomyelia / complications
  • Syringomyelia / congenital
  • Syringomyelia / pathology*
  • Syringomyelia / surgery*
  • Teratoma / complications
  • Teratoma / congenital
  • Teratoma / pathology*
  • Teratoma / surgery*
  • Young Adult

Supplementary concepts

  • Currarino triad