1. 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

2. 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

3. 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

4. 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.

6. DIAGNOSIS

7. Ultrasound sonographic findings are variable
Diagnosis can be made in the first trimester with the following sonographic signs:
short crown-rump length
abnormal appearance of the yolk sac

8. In the 2nd and 3rd trimester, most typical findings are:
Absence of a few vertebrae/no spine visible
shield like appearance of the fused or approximated iliac wings
decrease interspace between the femoral heads
Decreased movement of the lower extremities
Flexed legs and abducted at the hips, talipes equinovarus
associated urinary anomalies, such as renal agenesis, cystic dysplasias, caliectasis and gastro-intestinal anomalies, such as duodenal atresia

9. Figure 1: Although on superficial examination this image might pass for normal, note that on the caudal side of the image (on the right, since the ribs can be seen on the left side of the image) the spine terminates without the usual landmark of the iliac wings and sacrum

10. Figure 2: This same finding is even more striking on the sagittal view of the spine where the distal end appears to have been “erased”. This is actually the finding that caught the eye of one of my astute sonographer: she was puzzled by the spine “looking too short”.

11. Figure 3: Webbing of the popliteal joint is very typical too, but difficult to capture on a frozen image. By scanning meticulously over the popliteal region, the arciform shape of the soft-tissue can be recognized.

12. Figure 4: The lack of sacrum allows the iliac wings to be approximated, giving them a “shield” like appearance.

13. Figure 5: The spinal cord of this fetus is about at 2:00 (compare with the position of the iliac wing on fig. 4). I do not know of any other condition that can provide this same image of a cross-section though a fetal abdomen with no visible spine. All the other differential diagnoses such as achondrogenesis and the severest forms of OI would not present with the localized anomaly seen here.

14. MRI

15. T1 and T2 weighted sagittal images of lumbosacral spine showing partial agenesis of sacrum, truncated cord and filum terminale

16. Bladder Autoaugmentation
detrusor myomectomy
One of the options for surgical management of refractory bladder overactivity
incision of the overlying detrussor is made to create a large mucosal bladder diverticulum, increasing bladder storage capacity and decreasing functional uninhibited contractions of the bladder

17. Bladder Autoaugmentation
Advantage
Technically easy
Lack of graft-related difficulties, including infection and rejection
Disadvantage
Not enough bladder capacity in some individuals
risk of bladder leak or rupture

18. 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

19. 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