ABSTRACT

Background data:

CRS, also referred to as caudal dysplasia and sacral agenesis syndrome, is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop. The etiology is thought to be related to maternal diabetes, a genetic predisposition, teratogens, and vascular hypoperfusion, but no true causative factor has been determined. Since there is also no true cure, treatment is difficult, multidisciplinary, and largely supportive. Intensive and long-term attention is required for lower limb deformities with sensory or motor loss, or neurogenic bladder.

Objective:

To evaluate the radiological and clinical data of pediatric patients with spinal problems related to congenital or neuromuscular conditions using magnetic resonance imaging (MRI).

Study design:

We present ten cases of caudal regression syndrome (CRS) among 65 consecutive pediatric cases that were diagnosed with congenital spinal column deformities at the Department of Orthopedics and Traumatology, Baltalimani Bone Disease Hospital, İstanbul, Turkey, between 2006 and 2009.

Materials and Methods:

The clinical and radiological findings were reviewed to classify each patient by Renshaw’s and Guille’s classifications. The mean age was 81 (30–180) months. The clinical and radiological findings of these cases, along with the lifetime management, are outlined and the literature is reviewed.

Results:

In this study, 11.3% of patients were diagnosed with CRS in combination with congenital and spina bifida (SB) related spinal deformities. This indicates that the condition may not be as rare as most studies suggest. Our retrospective study reveals the various concomitant conditions which often occur with CRS.

Conclusion:

The goal of this study was to show the variations of CRS, and to provide insight into the management of this disorder. Caudal regression syndrome is still associated with structural and systematic problems including genitourinary, gastrointestinal, orthopedic, neurological, respiratory and cardiac anomalies. The first step in the early management of CRS should be an accurate prenatal diagnosis. We need larger studies to determine the utilities of the classifications, and to improve them. It is possible that there are under- or misdiagnosed patients in many centers who are receiving treatment for accompanying disorders.