Abstract

Fabry’s disease (FD) is an X-linked recessive disorder. The onset of clinical symptoms usually occurs during childhood or adolescence, but may be as late as the third or fourth decade. Early manifestations consist of episodic pain in the extremities and a teleangiectatic scaly maculopapular rash called angiokeratoma corporis diffusum. The angiokeratomas usually appear between the ages of 7 and 10 years and are dark red to black nonblanching macules and papules that range in size from punctate to 4 mm in diameter. They increase in number with time. They have a predilection for the genitals, the upper thighs and the lower trunk, and spare the face, scalp, palms and soles.

Keywords

Burning Fatigue High Performance Liquid Chromatography Ischemia Dementia 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Beyer E, Djatlovitskaya E, Zairatyants O, Berestova A, Mendelson M, Brook E, Wiederschain G (1990) Identification of Fabry disease in two brothers. J Inherited Metab Dis 13: 230–231PubMedCrossRefGoogle Scholar
  2. Deveber GA, Schwarting GA, Kolodny EH, Kowall NW (1992) Fabry disease:immunocytochemical characterization of neuronal involvement. Ann Neurol 31: 409–415PubMedCrossRefGoogle Scholar
  3. Filling-Katz MR, Merrick HF, Fink JK, Miles RB, Sokol J, Barton NW (1989) Carbamazepine in Fabrys disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 39: 598–600PubMedCrossRefGoogle Scholar
  4. Grewal RP, Barton NW (1992) Fabrys disease presenting with stroke. Clin Neurol Neurosurg 94: 177–179PubMedCrossRefGoogle Scholar
  5. Grewal RP, McLatchey SK (1992) Cerebrovascular manifestations in a female carrier of Fabrys disease. Acta Neurol Belg 92: 36–40PubMedGoogle Scholar
  6. Kaye EM, Kolodny EH, Logigian EL, Ullman MD (1988) Nervous system involvement in Fabrys disease: clinicopathological and biochemical correlation. Ann Neurol 23: 505–509PubMedCrossRefGoogle Scholar
  7. Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MGJ, Niermeijer MF (1987) Prenatal diagnosis of Fabrys disease by direct analysis of chorionic villi. Prenat Diagn 7: 283–287PubMedCrossRefGoogle Scholar
  8. Kornreich R, Bishop DF, Desnick RJ (1990) a-galactosidase A gene rearrangements causing Fabry disease. J Biol Chem 265: 9319–9326Google Scholar
  9. MacDermot KD, Morgan SH, Cheshire JK, Wilson TM (1987) Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88. Hum Genet 77: 263–266PubMedCrossRefGoogle Scholar
  10. Menzies DG, Campbell IW (1988) Magnetic resonance in Fab- rys disease. J Neurol Neurosurg Psychiatry 51: 1240–1241PubMedCrossRefGoogle Scholar
  11. Morgan SH, Rudge P, Smith SJM, Bronstein AM, Kendall BE, Holly E, Young EP, Crawfurd MA, Bannister R (1990) The neurological complications of Anderson-Fabry disease (agalactosidase A deficiency): investigation of symptomatic and presymptomatic patients. Q J Med New Ser 75: 491–504Google Scholar
  12. Moumdjian R, Tampieri D, Melanson D, Ethier R (1989) Anderson-Fabry disease: a case report with MR, CT and cerebral angiography. AJNR 10: 569 - S70Google Scholar
  13. Natowicz M, Kelley RI (1987) Mendelian etiologies of stroke. Ann Neurol 22: 175–192PubMedCrossRefGoogle Scholar
  14. Nelis GF, Jacobs GJA (1989) anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum ( Fabry-Andersons disease ). Dig Dis Sci 34: 17981800Google Scholar
  15. Paller AS (1987) Metabolic disorders characterized by angiokeratomas and neurologic dysfunction. Neurol Clin 5: 441446Google Scholar
  16. Rahman AN, Lindenberg R (1963) The neuropathology of hereditary dystopic lipidosis. Arch Neurol 9: 373–385PubMedCrossRefGoogle Scholar
  17. Thomas PK (1988) Inherited neuropathies related to disorders of lipid metabolism. In: DiDonato S (ed) Advances in neurology, molecular genetics of neurological and neuromuscular disease. Raven, New York, pp 133–144Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

Personalised recommendations