Bookmarks
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Glucocerebrosidase, acid β-glucosidase, glucosylceramidase
Definitions
- Lipid storage disease resulting from deficiency of lysosomal glucocerebrosidase → glucocerebroside deposition in macrophages (Gaucher cells)
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Degnan AJ et al: Gaucher disease status and treatment assessment: pilot study using magnetic resonance spectroscopy bone marrow fat fractions in pediatric patients. Clin Imaging. 63:1-6, 2020
- Hughes D et al: Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res. 34(6):996-1013, 2019
- Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
- Razek AA et al: Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. Skeletal Radiol. 42(2):283-7, 2013
- Javier RM et al: Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). Osteoporos Int. 22(4):1255-61, 2011
- Poll LW et al: Whole body MRI in type I Gaucher patients: evaluation of skeletal involvement. Blood Cells Mol Dis. 46(1):53-9, 2011
- Rossi L et al: Bone involvement as presenting sign of pediatric-onset Gaucher disease. Joint Bone Spine. 78(1):70-4, 2011
- Ozcan HN et al: Severe skeletal involvement in a patient with Gaucher's disease. J Orthop Sci. 14(4):465-8, 2009
- Roca M et al: S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 62(1):132-7, 2007
- Spitz M et al: Parkinsonism in type 1 Gaucher's disease. J Neurol Neurosurg Psychiatry. 77(5):709-10, 2006
- Maas M et al: Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology. 229(2):554-61, 2003
- Olsen E ØE et al: Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management? Pediatr Radiol. 33(11):782-5, 2003
- Maas M et al: Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol. 179(4):961-5, 2002
- Vlieger EJ et al: Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease. J Comput Assist Tomogr. 26(5):843-8, 2002
- Dolen EG et al: "Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease. Pediatr Radiol. 27(6):514-6, 1997
- Hill SC et al: Radiographic findings in type 3b Gaucher disease. Pediatr Radiol. 26(12):852-60, 1996
- Hill SC et al: MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr. 17(5):806-9, 1993
- Katz K et al: Spinal involvement in children and adolescents with Gaucher disease. Spine (Phila Pa 1976). 18(3):332-5, 1993
- Schwartz AM et al: "Step-off" vertebral body: Gaucher's disease versus sickle cell hemoglobinopathy. AJR Am J Roentgenol. 132(1):81-5, 1979
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Glucocerebrosidase, acid β-glucosidase, glucosylceramidase
Definitions
- Lipid storage disease resulting from deficiency of lysosomal glucocerebrosidase → glucocerebroside deposition in macrophages (Gaucher cells)
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Degnan AJ et al: Gaucher disease status and treatment assessment: pilot study using magnetic resonance spectroscopy bone marrow fat fractions in pediatric patients. Clin Imaging. 63:1-6, 2020
- Hughes D et al: Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res. 34(6):996-1013, 2019
- Meyer BJ et al: Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol. 43(10):1495-8, 2014
- Razek AA et al: Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. Skeletal Radiol. 42(2):283-7, 2013
- Javier RM et al: Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). Osteoporos Int. 22(4):1255-61, 2011
- Poll LW et al: Whole body MRI in type I Gaucher patients: evaluation of skeletal involvement. Blood Cells Mol Dis. 46(1):53-9, 2011
- Rossi L et al: Bone involvement as presenting sign of pediatric-onset Gaucher disease. Joint Bone Spine. 78(1):70-4, 2011
- Ozcan HN et al: Severe skeletal involvement in a patient with Gaucher's disease. J Orthop Sci. 14(4):465-8, 2009
- Roca M et al: S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 62(1):132-7, 2007
- Spitz M et al: Parkinsonism in type 1 Gaucher's disease. J Neurol Neurosurg Psychiatry. 77(5):709-10, 2006
- Maas M et al: Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology. 229(2):554-61, 2003
- Olsen E ØE et al: Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management? Pediatr Radiol. 33(11):782-5, 2003
- Maas M et al: Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol. 179(4):961-5, 2002
- Vlieger EJ et al: Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease. J Comput Assist Tomogr. 26(5):843-8, 2002
- Dolen EG et al: "Cold bone scans" as a sign of hemorrhagic infarcts of the spine in Gaucher's disease. Pediatr Radiol. 27(6):514-6, 1997
- Hill SC et al: Radiographic findings in type 3b Gaucher disease. Pediatr Radiol. 26(12):852-60, 1996
- Hill SC et al: MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr. 17(5):806-9, 1993
- Katz K et al: Spinal involvement in children and adolescents with Gaucher disease. Spine (Phila Pa 1976). 18(3):332-5, 1993
- Schwartz AM et al: "Step-off" vertebral body: Gaucher's disease versus sickle cell hemoglobinopathy. AJR Am J Roentgenol. 132(1):81-5, 1979
