Male Patient Born with Several Congenital Anomalies

Case Summary

• Male patient born with several congenital anomalies, including pathologic deletion of 7q36, chordee with left hydrourethronephrosis, low lying conus (L5), cleft palate and low set ears.
• Genetic malformation was identified first and then he was screened for other anomalies.
• Sacral defect was also identified.
• He underwent MRI, which identified low lying conus and a lesion that seemed to connect to a presacral mass.
• He underwent detethering of the spinal cord and cyst removal.
• Pathology showed mature teratoma.
• On repeat MRI, he was found to have an intra-abdominal lymphatic malformation.
• He underwent surgery for the lymphatic malformation.
• Presacral mass was located high in the pelvis.
• Patient had no evidence of stenosis.
• Two 5.0 silks were placed into the edges of the anus.
• Surgery began with posterior sagittal approach.
• Mass was dissected.
• Hegar dilator was placed into the rectum to ensure that the rectum is not open.
• Pathology showed mature cystic teratoma.

Takeaways

• With a presacral mass, the patient should be evaluated for anorectal stenosis or perineal fistula.
• If there is a large space where the presacral mass was located, a drain should be left in place.
• The family of patients with presacral mass should also be screened for a presacral mass with radiographs of the sacrum.