A Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome.

ABSTRACT

INTRODUCTION: Scheie syndrome is an extremely rare systematic disease that represents the most attenuated form of mucopolysaccharidosis Type I disorder. Although associated with a variety of manifestations, Scheie syndrome leading to the development of cervical myelopathyis yet to be reported. Our purpose was to present a unique case of a Scheie syndrome patient, who underwent surgery due to cervical myelopathy, and to discuss the clinical and imaging findings, as well as the challenges and outcomes of surgical treatment. CASE REPORT A 33-year-old man with Scheie syndrome presented with neck and radicular pain, upper extremity weakness, and insecure gait. The workup studies revealedcervical spine stenosis at multiple levels, caused by accumulation of soft tissue, within the cervical spinal canal. D espite the high risks of anesthesia, and the patient's inherent poor bone quality that could lead to failure of spinal fusion, we decided to proceed with surgery; indeed, decompressive laminectomies combined with C1-7 posterior stabilization led to immediate pain relief. Despite counter advised, the patient returned to sports rather early, and 6months after index procedure neck pain relapsed, while screw breakage and cutout occurred at the level of C7. Consequently, the initial instrumentation was revised and extended at T2 level. At 2years follow-up, the patient remained continuously pain-free and ambulatory. CONCLUSION: Although cervical myelopathy in Scheie syndrome represents an extremely rare entity, it can make a severe impact on patients' quality of life. If timely managed though, these patients can be offered a significant relief from symptoms. Surgery is rather challenging and treating physicians should be aware of the high risks of anesthesia. Especially spine surgeons should be aware of the nature of the disease, since it may not allow for fusion, causing instrumentation to fail.