Cervical Instability and Quadriparesis Requiring Stabilization in Pediatric Patient Caused by a Mutation in COL2A1

Abstract

A 3-year-old male with no past medical history presented with flaccid plegia of his upper extremities and significant weakness in his lower extremities after wrestling with his brother. A cervical spine MRI was consistent with cord edema and intraparenchymal hemorrhage at C1-C2. A non-ossified tissue mass at the expected location of the upper dens created narrowing of the canal at the C1-2 level and mass effect on the cord. Head CT demonstrated periventricular leukomalacia. Initial findings favored dysplasia of the odontoid with associated soft tissue mass/pannus due to a possible underlying genetic or metabolic bone dyscrasia. He underwent suboccipital craniotomy/C1 laminectomy and occiput to C4 fusion, for decompression and stabilization. Genetic testing revealed a COL2A1 collagen disorder, with the child harboring a de novo mutation for c.3455 G>T (p.G1152V). The patient was discharged to inpatient acute rehabilitation with gradual improvement in strength in all four extremities.