Specific enzyme deficiency → inability to break down specific glycosaminoglycans (GAG)
Failure to break down GAG → intracellular accumulation and toxicity
IMAGING
General Features
Radiographic Findings
Fluoroscopic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Broomfield A et al: Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre's experience. Childs Nerv Syst. 34(9):1705-16, 2018
Nicolas-Jilwan M et al: Mucopolysaccharidoses: overview of neuroimaging manifestations. Pediatr Radiol. 48(10):1503-20, 2018
Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
Charrow J et al: Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 114(1):11-18, 2015
Leone A et al: Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 31(2):203-12, 2015
Pang D et al: Embryology and bony malformations of the craniovertebral junction. Childs Nerv Syst. 27(4):523-64, 2011
Arvin B et al: Os odontoideum: etiology and surgical management. Neurosurgery. 66(3 Suppl):22-31, 2010
Marsden D et al: Newborn screening of lysosomal storage disorders. Clin Chem. 56(7):1071-9, 2010
Mundada V et al: Lumbar gibbus: early presentation of dysostosis multiplex. Arch Dis Child. 2009 Dec;94(12):930-1. Erratum in: Arch Dis Child. 95(5):401, 2010
Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
Finn CT et al: Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl. 97(457):61-8, 2008
Menezes AH et al: Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst. 24(10):1155-63, 2008
Song D et al: Spinal disorders associated with skeletal dysplasias and syndromes. Neurosurg Clin N Am. 18(3):499-514, 2007
Dickerman RD et al: Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. Spine (Phila Pa 1976). 29(5):E92-4, 2004
Vougioukas VI et al: Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg. 35(1):35-8, 2001
Chirossel JP et al: Management of craniocervical junction dislocation. Childs Nerv Syst. 16(10-11):697-701, 2000
Kim FM et al: Neuroimaging of scoliosis in childhood. Neuroimaging Clin N Am. 9(1):195-221, 1999
Levin TL et al: Lumbar gibbus in storage diseases and bone dysplasias. Pediatr Radiol. 27(4): 289-94, 1997
Piccirilli CB et al: Cervical kyphotic myelopathy in a child with Morquio syndrome. Childs Nerv Syst. 12(2):114-6, 1996
Crockard HA et al: Craniovertebral junction anomalies in inherited disorders: part of the syndrome or caused by the disorder? Eur J Pediatr. 154(7):504-12, 1995
Vinchon M et al: Cervical myelopathy secondary to Hunter syndrome in an adult. AJNR Am J Neuroradiol. 16(7):1402-3, 1995
Blaser SI et al: Neuroradiology of lysosomal disorders. Neuroimaging Clin N Am. 4(2):283-98, 1994
Stevens JM et al: The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion. J Bone Joint Surg Br. 73(5):851-8, 1991
Murata R et al: MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol. 10(6):1165-70, 1989
Nelson J et al: Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings. Clin Genet. 33(2):111-20, 1988
Banna M et al: Compressive meningeal hypertrophy in mucopolysaccharidosis. AJNR Am J Neuroradiol. 8(2):385-6, 1987
Kulkarni MV et al: Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging. 5(5):317-23, 1987
Edwards MK et al: CT metrizamide myelography of the cervical spine in Morquio syndrome. AJNR Am J Neuroradiol. 3(6):666-9, 1982
Specific enzyme deficiency → inability to break down specific glycosaminoglycans (GAG)
Failure to break down GAG → intracellular accumulation and toxicity
IMAGING
General Features
Radiographic Findings
Fluoroscopic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Broomfield A et al: Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre's experience. Childs Nerv Syst. 34(9):1705-16, 2018
Nicolas-Jilwan M et al: Mucopolysaccharidoses: overview of neuroimaging manifestations. Pediatr Radiol. 48(10):1503-20, 2018
Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
Charrow J et al: Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 114(1):11-18, 2015
Leone A et al: Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 31(2):203-12, 2015
Pang D et al: Embryology and bony malformations of the craniovertebral junction. Childs Nerv Syst. 27(4):523-64, 2011
Arvin B et al: Os odontoideum: etiology and surgical management. Neurosurgery. 66(3 Suppl):22-31, 2010
Marsden D et al: Newborn screening of lysosomal storage disorders. Clin Chem. 56(7):1071-9, 2010
Mundada V et al: Lumbar gibbus: early presentation of dysostosis multiplex. Arch Dis Child. 2009 Dec;94(12):930-1. Erratum in: Arch Dis Child. 95(5):401, 2010
Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
Finn CT et al: Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl. 97(457):61-8, 2008
Menezes AH et al: Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst. 24(10):1155-63, 2008
Song D et al: Spinal disorders associated with skeletal dysplasias and syndromes. Neurosurg Clin N Am. 18(3):499-514, 2007
Dickerman RD et al: Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. Spine (Phila Pa 1976). 29(5):E92-4, 2004
Vougioukas VI et al: Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg. 35(1):35-8, 2001
Chirossel JP et al: Management of craniocervical junction dislocation. Childs Nerv Syst. 16(10-11):697-701, 2000
Kim FM et al: Neuroimaging of scoliosis in childhood. Neuroimaging Clin N Am. 9(1):195-221, 1999
Levin TL et al: Lumbar gibbus in storage diseases and bone dysplasias. Pediatr Radiol. 27(4): 289-94, 1997
Piccirilli CB et al: Cervical kyphotic myelopathy in a child with Morquio syndrome. Childs Nerv Syst. 12(2):114-6, 1996
Crockard HA et al: Craniovertebral junction anomalies in inherited disorders: part of the syndrome or caused by the disorder? Eur J Pediatr. 154(7):504-12, 1995
Vinchon M et al: Cervical myelopathy secondary to Hunter syndrome in an adult. AJNR Am J Neuroradiol. 16(7):1402-3, 1995
Blaser SI et al: Neuroradiology of lysosomal disorders. Neuroimaging Clin N Am. 4(2):283-98, 1994
Stevens JM et al: The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion. J Bone Joint Surg Br. 73(5):851-8, 1991
Murata R et al: MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol. 10(6):1165-70, 1989
Nelson J et al: Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings. Clin Genet. 33(2):111-20, 1988
Banna M et al: Compressive meningeal hypertrophy in mucopolysaccharidosis. AJNR Am J Neuroradiol. 8(2):385-6, 1987
Kulkarni MV et al: Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging. 5(5):317-23, 1987
Edwards MK et al: CT metrizamide myelography of the cervical spine in Morquio syndrome. AJNR Am J Neuroradiol. 3(6):666-9, 1982
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