title: Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.
abstract: OBJECTIVE
  To analyse diagnostic value of somato-sensory evoked potentials (SEP), magnetic resonance imaging (MRI), and clinical neurological examination in the decision for decompression surgery in mucopolysaccharidosis (MPS) VI patients with craniocervical cord compression (CCJ).
  
  
  METHODS
  We retrospectively analysed neurological examination, SEP of the median nerve and MRI outcomes from 31 MPS VI patients. Individual scores for each test (based on severity of findings) and a sum of scores of all three procedures (CCJ score) were evaluated for their potential to measure the need for and improvement after surgery. Differences between rapidly and slowly progressive patients were also evaluated.
  
  
  RESULTS
  Fourteen patients (45 %) aged 4-34 years underwent decompression surgery. Median age at first operation was lower in rapidly than in slowly progressive patients (12 vs. 24 years; P = 0.008). Neurological and SEP findings but not MRI results differed significantly between non-operated and operated patients (P < 0.001, P = 0.003 and P = 0.08, respectively). A significant relationship was found between MRI and clinical neurological examination (P < 0.001) and between SEP and clinical neurological examination (P = 0.01) but not between MRI and SEP (P = 0.06). The CCJ score discriminated between operated and non-operated patients (4-9 points vs. 0-3 points; P < 0.001) and decreased in 61.5 % of patients after surgery.
  
  
  CONCLUSIONS
  CCJ is common in rapidly and slowly progressive MPS VI patients. The CCJ score is an objective and transparent tool for assessing pathology of the CCJ, the need for surgery, and improvement after surgery.
authors: Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany, christina.lampe@unimedizin-mainz.de.
authors: Christina
authors: C
authors: Lampe
authors: Christian
authors: C
authors: Lampe
authors: Manfred
authors: M
authors: Schwarz
authors: Wibke
authors: W
authors: Müller-Forell
authors: Paul
authors: P
authors: Harmatz
authors: Eugen
authors: E
authors: Mengel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019299:Decompression, Surgical; D005073:Evoked Potentials, Somatosensory / Q000502:physiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000150:complications / Q000175:diagnosis* / Q000601:surgery*; D009460:Neurologic Examination; D011237:Predictive Value of Tests; D011379:Prognosis; D012107:Research Design; D012189:Retrospective Studies; D013117:Spinal Cord Compression / Q000150:complications / Q000175:diagnosis* / Q000601:surgery*; D016896:Treatment Outcome; D055815:Young Adult