Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases

Abstract

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant skeletal dysplasia resulting in impairment of type II collagen function. Phenotypically, this results in various skeletal, ligamentous, ocular, and otologic abnormalities. Platyspondyly, scoliosis, ligamental laxity, and odontoid hypoplasia are common, resulting in myelopathy in a high number of patients due to atlantoaxial instability. Despite patients undergoing surgical fixation, complication rates such as nonunion have been reported to be high. Here within, we present two patients treated with occipitocervical fusion for atlantoaxial instability and early symptoms of progressive myelopathy. We additionally provide a detailed review of the literature to inform practitioners of the spinal manifestations and clinical considerations in SEDC.

Keywords: atlantoaxial instability; pediatric spinal anomalies; pediatric spine; sedc; spine.

Figure 1. Preoperative T2 weighted MRI sagittal sequences demonstrating dynamic instability and compression of the upper cervical spinal cord on flexion and extension positioning (arrow showing site of maximal compression). A: Neutral Position, B: Flexion, C: Extension.

Figure 2. AP and lateral radiographs demonstrating occipital to C2 instrumentation with a unilateral occipital plate and unilateral C2 translaminar screw placement.

AP: Anterior to posterior

Figure 3. Preoperative T2 weighted MRI sagittal sequences demonstrating dynamic instability and compression of the upper cervical spinal cord on flexion and extension positioning (arrow demonstrating site of maximal compression). A: Neutral Position, B: Flexion, C: Extension.