Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up

Abstract

A 24-year-old woman presented to neurosurgical consultation for chronic back pain. The patient was long term in wheelchair for vertebral deformity. She was the third child of first-degree consanguineous parents. The 2 older brothers had also vertebral malformations. The radiological images showed butterfly vertebra, vertebral fusion, hemivertebrae, scoliosis, and rib malformation. The patient was in follow-up for restrictive lung disease. Motor evoked potentials and lower limb electromyography were normal. We recommended conservative treatment for the back pain with antalgic and physical therapy. Diagnosis of spondylocostal dysostosis, or Jarcho-Levin syndrome, was made based on radiological features. Radiological mages are pathognomonic. Spondylocostal dysostosis is a rare hereditary disorder associated with multiple vertebral and rib anomalies. The entity is distinct from spondylothoracic dysostosis, which has a higher mortality due to respiratory complications. The patient was not compliant for genetic familiar counseling. At 12-year follow-up, the patient was in periodic respiratory and motor rehabilitation therapy.