Development of a scoring system to evaluate the severity of craniocervical spinal cord compression in patients with mucopolysaccharidosis iva (morquio a syndrome)

Abstract

Background: As spinal cord compression at the craniocervical junction (CCJ) is a life-threatening manifestation in patients with mucopolysaccharidosis (MPS) IVA, surgical decompression should be performed before damage becomes irreversible. We evaluated the diagnostic value of several examinations for determining the need for decompression surgery. Methods: We retrospectively analysed results of clinical neurological examination, somatosensory evoked potential (SEP) and magnetic resonance imaging (MRI) in 28 MPS IVA patients. A scoring system – based on the severity of findings – was used to compare results of patients with and without indication for decompression surgery. Individual test scores and two composite scores were evaluated for their potential to assess severity of CCJ impairment. Results: Sixteen patients had an indication for surgery; 12 of them had undergone surgery. Twelve patients had no indication for surgery; none had received surgery. Neurological (P = 0.004), MRI (P < 0.001) and atlantoaxial subluxation (P = 0.006) scores, but not SEP and odontoid hypoplasia scores, differed significantly between patients with and without surgical indication. Both the abbreviated CCJ score, i.e. sum of neurological and MRI scores, and the extended CCJ score, i.e. sum of abbreviated CCJ and atlantoaxial subluxation score, discriminated between patients with and without surgical indication (abbreviated: 0–2 points vs 2–5 points, P < 0.001; extended: 0–3 points vs 3–7 points; P < 0.001). Although CCJ instability plays a major role in cervical cord pathology, decompression surgery without occipito-cervical stabilisation may yield good postoperative results. Conclusions: The abbreviated and extended CCJ scores are objective, transparent and reproducible tools for assessing the CCJ pathology and the need for surgery.