Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes

Sacral agenesis (SA), or caudal regression syndrome, is a congenital malformation of the spine of varying degree of severity. The aim of our study was to identify associated impairments in structure and function of the orthopedic, neurological, cardiopulmonary, genitourinary, and gastrointestinal systems, and to evaluate their impact on function.

This was a retrospective case series analysis of 38 patients with SA. Patients were divided into two groups: SA with myelomeningocele (group 1) and without myelomeningocele (group 2). Between-group comparisons in terms of the features of the SA, impairments in associated systems, impact on gross motor function, need for surgery, and association with prenatal screening and maternal gestational diabetes were evaluated.

The majority of comorbidities were orthopedic and neurological in nature. Impairments in sphincter control and independent transferring were more prevalent in group 1, resulting in lower function. Scoliosis, kyphosis, and hip dislocation/subluxation were the most common orthopedic problems, with a higher prevalence of kyphosis in group 1. The requirement for neurosurgery was significantly higher in group 1.

Orthopedic and neurological comorbidities are commonly associated with SA and are more prevalent in the presence of a myelomeningocele. As the impairments impact a child's ability for maximum function, early identification and intervention is required to correct or ameliorate the impairment.

Level IV.