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.
Competing interests: Competing interests declared by authors can be found at the end of this chapter
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References
Ain MC, Chaichana KL, Schkrohowsky JG (2006) Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia. Spine 31:E169–E174
Ashraf J, Crockard HA, Ransford AO, Stevens JM (1991) Transoral decompression and posterior stabilisation in Morquio’s disease. Arch Dis Child 66:1318–1321
Boor R, Goebel B, Taylor MJ (1998) Subcortical somatosensory evoked potentials after median nerve stimulation in children. Eur J Paediatr Neurol 2:137–143
Boor R, Miebach E, Brühl K, Beck M (2000) Abnormal somatosensory evoked potentials indicate compressive cervical myelopathy in mucopolysaccharidoses. Neuropediatrics 31:122–127
Castro S, Ayres-Basto M, Rodrigues E, Campos MM, Guimarães J, Leão-Teles E (2008) Vertebro-medular imaging findings in mucopolysaccharidosis types II and IV. J Inherit Metab Dis 31(1):109 (abs. 431-P)
Hughes DG, Chadderton RD, Cowie RA, Wraith JE, Jenkins JPR (1997) MRI of the brain and craniocervical junction in Morquio’s disease. Neuroradiology 39:381–385
Kopits SE, Perovic MN, McKusick V, Robinson RA, Bailey JA III (1972) Congenital atlantoaxial dislocations in various forms of dwarfism. J Bone Joint Surg Am 54-A:1349–1350
Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL (2010) Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med 3:109–118
Lipson SJ (1977) Dysplasia of the odontoid process in Morquio’s syndrome causing quadriparesis. J Bone Joint Surg Am 59:340–344
McLaughlin AM, Farooq M, Donnelly MB, Foley K (2010) Anaesthetic considerations of adults with Morquio's syndrome - a case report. BMC Anesthesiol 10:2
Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T (2007) International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 30:165–174
Muenzer J (2011) Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 50(Suppl 5):v4–v12
Northover H, Cowie RA, Wraith JE (1996) Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis 19:357–365
Ransford AO, Crockard HA, Stevens JM, Modaghegh S (1996) Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. J Bone Joint Surg Br 78:307–313
Roach JW, Duncan D, Wenger DR, Maravilla A, Maravilla K (1984) Atlanto-axial instability and spinal cord compression in children–diagnosis by computerized tomography. J Bone Joint Surg Am 66:708–714
Shukla D, Arvind S, Devi BI (2011) Myelopathy in a dwarf: a case of Morquio’s syndrome without odontoid hypoplasia. Neurol India 59:126–127
Stevens JM, Kendall BE, Crockard HA, Ransford A (1991) The odontoid process in Morquio-Brailsford’s disease. The effects of occipitocervical fusion. J Bone Joint Surg Br 73:851–858
Stöhr M, Dichgans J, Büttner U, Hess CW (2005) Evozierte Potenziale: SEP – VEP – AEP –EKP – MEP. Springer 4. Auflage, Berlin
Takeda E, Hashimoto T, Tayama M et al (1991) Diagnosis of atlantoaxial subluxation in Morquio's syndrome and spondyloepiphyseal dysplasia congenita. Acta Paediatr Jpn 33:633–638
Tomatsu S, Montaño AM, Oikawa H et al (2011) Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol 12:931–945
Walker RWM, Darowski M, Morris P, Wraith JE (1994) Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia 49:1078–1084
White KK, Steinman S, Mubarak SJ (2009) Cervical stenosis and spastic quadriparesis in Morquio disease (MPS IV). A case report with twenty-six-year follow-up. J Bone Joint Surg Am 91:438–442
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Communicated by: Gregory M. Pastores, MD
Appendices
Take-Home Message
Clinical neurological examination, magnetic resonance imaging and evaluation of atlantoaxial subluxation are the best diagnostic methods to assess the severity of cervical cord compression in patients with MPS IVA; they can be combined into two composite scores which can help to determine the need and optimal timing for decompression surgery.
Authors’ Contributions
Christian Möllmann was involved in designing the study and collecting and interpreting the data. He was involved in drafting the manuscript and revising it critically for important intellectual content. This publication is part of Christian Möllmann’s MD thesis, entitled ‘Die kraniozervikale Stenose bei Mukopolysaccharidose IVA (M. Morquio A)’, defended at the Johannes Gutenberg-Universität in Mainz in 2012.
Christian Lampe was involved in designing the study and in analysing and interpreting the data, especially SEP data. He was involved in drafting the manuscript and revising it critically for important intellectual content.
Wibke Müller-Forell was involved in performing and interpreting the MRI examinations and in revising the manuscript.
Maurizio Scarpa, Paul Harmatz and Michael Beck were involved in analysing and interpreting the data and in revising the manuscript for important intellectual content.
Manfred Schwarz has been involved in the interpretation of data, drafting the manuscript and revising it critically for important intellectual content.
Christina Lampe was involved in designing the study and in collecting, analysing and interpreting the data. She was involved in drafting the manuscript and revising it critically for important intellectual content. Christina Lampe accepts full responsibility for the work and the conduct of the study, had access to all data and controlled the decision to publish.
All authors have given final approval of this version to be published.
Competing Interests
Christian Möllman received travel grants from BioMarin Europe Ltd.
Christian Lampe received travel grants from BioMarin Europe Ltd.
Wibke Müller-Forell has no conflicts of interest.
Maurizio Scarpa provided consulting services to BioMarin Pharmaceutical Inc, Novato, CA, USA. He has also received research grants, participated in advisory boards, and received speakers’ honoraria and travel support from BioMarin.
Paul Harmatz has provided consulting services to BioMarin Pharmaceutical Inc, Novato, CA, USA. He has also received research grants, participated in advisory boards, and received speakers’ honoraria and travel support from BioMarin.
Manfred Schwarz received travel grants and speakers’ fee from BioMarin Europe Ltd.
Michael Beck provided consulting services to BioMarin Pharmaceutical Inc, Novato, CA, USA. He also received research grants, participated in advisory boards, and received speakers’ honoraria and travel support from BioMarin.
Christina Lampe received travel grants, speakers’ fee, participated in advisory boards, provided consulting services and received article processing charge from BioMarin Europe Ltd and Shire.
Funding
The authors are grateful to Ismar Healthcare NV for their writing assistance, which was funded by BioMarin Europe Ltd. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
Ethical Approval
Ethical approval was not required for this retrospective study.
Patient Consent Statement
All patients included in the study gave informed consent.
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Möllmann, C. et al. (2013). Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome). In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 11. JIMD Reports, vol 11. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_223
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DOI: https://doi.org/10.1007/8904_2013_223
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