Bladder Autoaugmentation and Mitrofanoff Appendicovesicostomy on a patient with Caudal Regression Syndrome: A Case Report Alonzo, Ivan; Amaro, Alejandra; Amolenda, Patricia; Andal, Charlotte; Ang, Jessy; Ang, Joanne; Ang, Kevin; Aningalan, Arvin; Antonio, Abigaille; Aramburo, Jan; Arcilla, Martin; Argana, Desiree   Consultant-in-charge: Dr. Bolong Resident-in-charge: Dr. Arcinas University of Santo Tomas Department of Surgery February 9, 2011

Caudal Regression Syndrome Occurs in one in 25,000 live births Characterized by a series of congenital anomalies, including complete or partial agenesis of the sacrum and lumbar vertebrae associated with pelvic deformity Commonly seen are femoral hypoplasia, clubbed feet, and flexion contractures of the lower extremities CRS is also associated with presence of two umbilical arteries, non-lethal renal anomalies, non-fused lower limbs, abdominal wall defects, and abnormalities of tracheoesophageal tree, neural tube and heart Patients with CRS lack motor function below the level of the remaining normal spine but sensation tends to be present at much more caudal levels

Caudal Regression Syndrome The cause is little understood CRS is strongly associated with maternal diabetes mellitus. Infants of diabetic mothers have two to three times the average incidence of congenital anomalies

Classification Type I with total or partial unilateral sacral agenesis. Type II with variable lumbar and total sacral agenesis and the ilia articulating with sides of the lowest vertebra Type III with variable lumbar and a total sacral agenesis, the caudal end plate of the lowest vertebra resting above either fused ilia or an iliac amphiarthrosis Type IV with fusion of soft tissues of both the lower limbs Type V also known as “sirenomelia” or “mermaid syndrome” wherein there is a single femur and tibia.

Diagnosis Diagnosis can be made in the first trimester by noting the short crown – rump length. Sonography in second or third trimester can also demonstrate the absence of sacrum and shortened femurs. The legs may be flexed and abducted at the hips, and there may be clubfeet. Sonography may detect associated urinary anomalies, such as renal agenesis, cystic dysplasias, caliectasis and gastro-intestinal anomalies, such as duodenal atresia.

Mitrofanoff Appendicovesicostomy Provides an alternative means to access the bladder It uses the appendix to create a conduit to the bladder, through which patients with a sensitive, absent, or traumatized urethra can perform clean intermittent catheterization easily It is typically performed when there is blockage of the urethral canal or when there is need for frequent catheterization as in neurogenic bladder

Mitrofanoff Appendicovesicostomy The procedure involves separating the appendix from the cecum One end of the appendix is connected to the urinary bladder and the other end is connected to skin forming a stoma An incision is made in the umbilicus to serve as the canal for the catheter