Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up

Caudal regression syndrome (CRS) is a rare congenital abnormality including orthopedic deformities, urological, anorectal, and cardiac malformations. The clinical spectrum of CRS varies in severity, therefore multiple surgeries and complex medical care may be required with the efforts and support of a multidisciplinary team to ensure the most accurate treatment and the best outcome. The aim of our retrospective study was to evaluate the role of a multidisciplinary treatment and the long-term outcome in patients with severe CRS.

Clinical, surgical and psychological data were collected for all patients with diagnosis of CRS, treated at our Pediatric Hospital from January 1995 to December 2020. Patients with a severe form of CRS according to Pang’s classification were included in the study. All patients have been followed by a multidisciplinary team composed by urologists, neurosurgeons, neonatal and digestive surgeons, orthopedic surgeon, physiatrists and psychologists. On admission, patients were screened for CRS with sacrum, spine and legs X-ray, spine MRI, renal ultrasound, voiding cystography and urodynamic, and renography. Clinical data about bowel function were evaluated.

During the study period, 55 patients with CRS were treated at our Institution. Six out of 55 (10.9%), presented with severe form of CRS (5 pts with type 1; 1 pt, with type 2) and represent our study group. Diagnosis of severe CRS was made at birth because of the typical deformities of the pelvis (fusion of the iliac wings), and of the lower extremities (undeveloped legs with flexion of the knees, clubfoot). All patients presented with neurogenic bladder, 4/6 (66.6%) with vesicoureteral reflux (VUR) and 2/6 (33.3%) with renal agenesia and contralateral ectopic hypoplastic kidney. Bowel symptoms occurred in 5/6 pts (83.3%). All patients were started with an earlier clean intermittent catheterization (CIC) regimen. In 3 patients oxybutynin has been effective or well tolerated, while in other 3 onabotulinumtoxin A has been used. Vesicoureteral reimplantation has been performed in 1 patient, 2 required endoscopic treatment of VUR. On long-term, 2 patients required bladder augmentation with ileum and appendicostomy (Mitrofanoff). Low adherences in CIC have been observed in three patients, mainly at puberty. Two patients presented with chronic renal failure. One patient reported suicide proposal. Regarding social life, only one is regularly performing sport activity.

CRS is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. Management of CRS includes a wide variety of interventions to address the full spectrum of possible anatomical abnormalities. Hence, a multidisciplinary team is also mandatory for a correct bladder and bowel management, in order to maintain continence and preserve renal function, improve quality of life and increase self-esteem.