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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Mucopolysaccharidosis/mucopolysaccharidoses: MPS
- MPS I-H: Hurler syndrome
- MPS I-S: Scheie syndrome
- MPS I-H/S: Hurler-Scheie syndrome
- MPS II: Hunter syndrome
- MPS III: Sanfilippo syndrome
- MPS IV: Morquio syndrome
- MPS V: Nonexistent, now classified as MPS I-S
- MPS VI: Maroteaux-Lamy syndrome
- MPS VII: Sly syndrome or β-glucuronidase deficiency
- MPS VIII: Nonexistent
- MPS IX: Natowicz syndrome or Hyaluronidase deficiency
Definitions
- Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
- GAGs were formerly called mucopolysaccharides
- Dysostosis multiplex (DM): Constellation of bone dysplasia features seen variably in MPS
- DM group: Includes all storage diseases that lead to skeletal dysplasia
- MPS, mucolipidoses, others (Gaucher, Niemann-Pick, gangliosidosis, fucosidosis, mannosidosis, sialidosis)
- Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
IMAGING
Radiographic Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Reporting Tips
Selected References
- Kubaski F et al: Mucopolysaccharidosis type I. Diagnostics (Basel). 10(3), 2020
- Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
- Palmucci S et al: Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 4(4):443-59, 2013
- Muenzer J: Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 50 Suppl 5:v4-12, 2011
- Rasalkar DD et al: Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol. 84(1001):469-77, 2011
- Aliabadi H et al: Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. Neurosurgery. 67(6):1476-81; discussion 1481-2, 2010
- Li MF et al: Atlantoaxial instability and cervical cord compression in Morquio syndrome. Arch Neurol. 67(12):1530, 2010
- Morini SR et al: Mucopolysaccharidosis type II: skeletal-muscle system involvement. J Pediatr Orthop B. 19(4):313-7, 2010
- Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
- Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
- Borowski A et al: The use of computed tomography to assess acetabular morphology in Morquio-Brailsford syndrome. J Pediatr Orthop. 27(8):893-7, 2007
- Lachman RS: Taybi & Lachman's Radiology of Syndromes, Metabolic Disorders, & Skeletal Dysplasias. 5th ed. Mosby, 2007
- Manger B et al: Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol. 26(3):335-41, 2007
- Muenzer J et al: Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 350(19):1932-4, 2004
- Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 144(5 Suppl):S27-34, 2004
- Kachur E et al: Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery. 47(1):223-8; discussion 228-9, 2000
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Mucopolysaccharidosis/mucopolysaccharidoses: MPS
- MPS I-H: Hurler syndrome
- MPS I-S: Scheie syndrome
- MPS I-H/S: Hurler-Scheie syndrome
- MPS II: Hunter syndrome
- MPS III: Sanfilippo syndrome
- MPS IV: Morquio syndrome
- MPS V: Nonexistent, now classified as MPS I-S
- MPS VI: Maroteaux-Lamy syndrome
- MPS VII: Sly syndrome or β-glucuronidase deficiency
- MPS VIII: Nonexistent
- MPS IX: Natowicz syndrome or Hyaluronidase deficiency
Definitions
- Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
- GAGs were formerly called mucopolysaccharides
- Dysostosis multiplex (DM): Constellation of bone dysplasia features seen variably in MPS
- DM group: Includes all storage diseases that lead to skeletal dysplasia
- MPS, mucolipidoses, others (Gaucher, Niemann-Pick, gangliosidosis, fucosidosis, mannosidosis, sialidosis)
- Heterogeneous group of lysosomal storage diseases due to deficiency of glycosaminoglycan (GAG)-degrading enzymes
IMAGING
Radiographic Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Reporting Tips
Selected References
- Kubaski F et al: Mucopolysaccharidosis type I. Diagnostics (Basel). 10(3), 2020
- Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
- Palmucci S et al: Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 4(4):443-59, 2013
- Muenzer J: Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 50 Suppl 5:v4-12, 2011
- Rasalkar DD et al: Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol. 84(1001):469-77, 2011
- Aliabadi H et al: Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. Neurosurgery. 67(6):1476-81; discussion 1481-2, 2010
- Li MF et al: Atlantoaxial instability and cervical cord compression in Morquio syndrome. Arch Neurol. 67(12):1530, 2010
- Morini SR et al: Mucopolysaccharidosis type II: skeletal-muscle system involvement. J Pediatr Orthop B. 19(4):313-7, 2010
- Aldenhoven M et al: Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis. 68(11):1659-65, 2009
- Muenzer J et al: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 123(1):19-29, 2009
- Borowski A et al: The use of computed tomography to assess acetabular morphology in Morquio-Brailsford syndrome. J Pediatr Orthop. 27(8):893-7, 2007
- Lachman RS: Taybi & Lachman's Radiology of Syndromes, Metabolic Disorders, & Skeletal Dysplasias. 5th ed. Mosby, 2007
- Manger B et al: Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol. 26(3):335-41, 2007
- Muenzer J et al: Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 350(19):1932-4, 2004
- Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 144(5 Suppl):S27-34, 2004
- Kachur E et al: Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery. 47(1):223-8; discussion 228-9, 2000
