Abstract
Alström syndrome (AS) is a rare autosomal recessive genetic disorder with multisystemic involvement characterised by early blindness, hearing loss, obesity, insulin resistance, diabetes mellitus, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. The clinical features, time of onset and severity can vary greatly among different patients. Many of the phenotypes are often not present in infancy but develop throughout childhood and adolescence. Recessively inherited mutations in ALMS1 gene are considered to be responsible for the causation of AS. Musculoskeletal manifestations including scoliosis and kyphosis have been previously described. Here, we present a patient with AS who presented with cervical myelopathy due to extensive flowing ossification of the anterior and posterior longitudinal ligaments of the cervical spine resulting in cervical spinal cord compression. The presence of an auto-fused spine in an acceptable sagittal alignment, in the background of a constellation of medical comorbidities, which necessitated a less morbid surgical approach, favored a posterior cervical laminectomy decompression in this patient. Postoperatively, the patient showed significant neurological recovery with improved fun...Continue Reading
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