Congenital lumbar spinal stenosis: current perspectives on diagnosis, imaging, and treatment

Congenital lumbar stenosis (CLS) is an uncommon disorder marked by a congenitally small spinal canal, which frequently results in early-onset neurogenic symptoms. Sarpyener originally characterized CLS in 1947, and Verbiest later offered a clinical description of lumbar spinal stenosis that did not recognize the congenital nature of the condition. The frequency of absolute CLS is believed to be 2.6%; however, data are lacking. This narrative review will outline current knowledge on CLS, including its prevalence, clinical presentation, genetic implications, aspects in diagnostic imaging for the condition, and treatment options. CLS has similar clinical characteristics to acquired lumbar stenosis; however, individuals with CLS report more severe leg and back pain. Genetic factors may contribute to CLS occurrence; however, research on this aspect is scarce. CLS is usually related to cervical and thoracic stenosis, as well as diseases such disk herniation and spondylolisthesis. The diagnosis is based on imaging criteria, which are continually being refined. The treatment options vary from conservative care to surgical treatments, such as laminoplasty and stability-preserving decompression, although long-term outcome data are limited. CLS poses distinct diagnostic and treatment challenges given its early onset. Further study is needed to provide uniform diagnostic criteria, evaluate long-term treatment results, and identify specific genetic factors that contribute to CLS.