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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
- Fabry disease (FD)
Synonyms
- Anderson-Fabry disease
Definitions
- X-linked disorder of glycosphingolipid metabolism
- Deficient activity of α-galactosidase A
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Bernardes TP et al: Fabry disease: genetics, pathology, and treatment. Rev Assoc Med Bras (1992). 66Suppl 1(Suppl 1):s10-6, 2020
- Bokhari SRA et al: Fabry disease. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2020
- Miller JJ et al: Progress in the understanding and treatment of Fabry disease. Biochim Biophys Acta Gen Subj. 1864(1):129437, 2020
- Kramer J et al: Biomarkers for diagnosing and staging of Fabry disease. Curr Med Chem. 25(13):1530-7, 2018
- Marchesoni C et al: Brain MRI findings in children and adolescents with Fabry disease. J Neurol Sci. 395:131-4, 2018
- Kim SU: Lysosomal storage diseases: Stem cell-based cell- and gene-therapy. Cell Transplant. ePub, 2014
- Mahmud HM: Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment. J Pak Med Assoc. 64(2):189-94, 2014
- Tuttolomondo A et al: Anderson-Fabry disease: a multiorgan disease. Curr Pharm Des. 19(33):5974-96, 2013
- Buechner S et al: Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 79(11):1249-54, 2008
- Burlina AP et al: The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol. 255(5):738-44, 2008
- Fellgiebel A et al: CNS manifestations of Fabry's disease. Lancet Neurol. 5(9):791-5, 2006
- Ginsberg L et al: Magnetic resonance imaging changes in Fabry disease. Acta Paediatr Suppl. 95(451):57-62, 2006
- Lidove O et al: Imaging features of Fabry disease. AJR Am J Roentgenol. 186(4):1184-91, 2006
- Takanashi J et al: T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 24(5):916-21, 2003
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
- Fabry disease (FD)
Synonyms
- Anderson-Fabry disease
Definitions
- X-linked disorder of glycosphingolipid metabolism
- Deficient activity of α-galactosidase A
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Bernardes TP et al: Fabry disease: genetics, pathology, and treatment. Rev Assoc Med Bras (1992). 66Suppl 1(Suppl 1):s10-6, 2020
- Bokhari SRA et al: Fabry disease. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2020
- Miller JJ et al: Progress in the understanding and treatment of Fabry disease. Biochim Biophys Acta Gen Subj. 1864(1):129437, 2020
- Kramer J et al: Biomarkers for diagnosing and staging of Fabry disease. Curr Med Chem. 25(13):1530-7, 2018
- Marchesoni C et al: Brain MRI findings in children and adolescents with Fabry disease. J Neurol Sci. 395:131-4, 2018
- Kim SU: Lysosomal storage diseases: Stem cell-based cell- and gene-therapy. Cell Transplant. ePub, 2014
- Mahmud HM: Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment. J Pak Med Assoc. 64(2):189-94, 2014
- Tuttolomondo A et al: Anderson-Fabry disease: a multiorgan disease. Curr Pharm Des. 19(33):5974-96, 2013
- Buechner S et al: Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 79(11):1249-54, 2008
- Burlina AP et al: The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol. 255(5):738-44, 2008
- Fellgiebel A et al: CNS manifestations of Fabry's disease. Lancet Neurol. 5(9):791-5, 2006
- Ginsberg L et al: Magnetic resonance imaging changes in Fabry disease. Acta Paediatr Suppl. 95(451):57-62, 2006
- Lidove O et al: Imaging features of Fabry disease. AJR Am J Roentgenol. 186(4):1184-91, 2006
- Takanashi J et al: T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 24(5):916-21, 2003
