Assistant Professor Atrium Health Charlotte, North Carolina, United States
Case Diagnosis: Spinal fusion for Jarcho-Levin syndrome
Case Description: A 34-year-old male presented for an elective spinal fusion for progressive kyphoscoliotic deformity with severe debility and pain. Preoperative imaging revealed an auto fused and significantly shortened thoracic spine with numerous segmentation defects, lumbar hemivertebrae leading to kyphoscoliosis, significant leg length discrepancy, and a tilted pelvis along with numerous rib abnormalities. He had previously undergone an occiput to C7 fusion in 2002 for progressive cord compression and development of a chin on chest deformity, however despite physical therapy, pain management, and rib resections his pain continued to escalate. He returned to the operating room for an occiput to C7 hardware revision, C7 to S1 posterolateral arthrodesis, and L2 to L4 posterior column osteotomies resulting in an occiput to S1 fusion. His course was complicated by multiple failed intubation attempts requiring emergent tracheostomy and pain.
Discussions: Jarcho-Levin syndrome has a prevalence reported around 1 in 40,000 births globally with a higher frequency in those of Puerto Rican descent, approximating 49% of cases. It is largely autosomal recessive with 2 major subtypes, spondylothoracic dysostosis and spondylocostal dysostosis, the first of which is associated with higher mortality rate and neural tube defects. Abnormalities lead to a short trunk and neck with sparing of the long bones of the extremities. The most common radiographic findings include multiple segmental vertebral abnormalities, hemivertebrae, fused hypoplastic vertebrae, and characteristic “crab-like” ribs with fusion posteriorly at the costovertebral junction. As a result of these abnormalities, the chest cavity is unable to support growing lungs thus thoracic insufficiency is the leading cause of mortality due to repeated respiratory infections.
Conclusions: Jarcho-Levin syndrome is comprised of a variety of skeletal abnormalities with high risk for cardio-pulmonary compromise. Rehabilitation should focus on maintaining range of motion of the spine and maximizing pain control.
