Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study
Open Access
- 1 December 1994
- journal article
- case report
- Published by FapUNIFESP (SciELO) in Sao Paulo Medical Journal
- Vol. 112 (4), 649-653
- https://doi.org/10.1590/s1516-31801994000400007
Abstract
An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults.Keywords
This publication has 17 references indexed in Scilit:
- Fabry's disease presenting with strokeClinical Neurology and Neurosurgery, 1992
- Lateral Thalamic InfarctsArchives of Neurology, 1988
- Nervous system involvement in Fabry's disease: Clinicopathological and biochemical correlationAnnals of Neurology, 1988
- EFFECTS OF THALAMIC STROKE ON ENERGY METABOLISM OF THE CEREBRAL CORTEXBrain, 1986
- Paramedian thalamic and midbrain infarcts: Clinical and neuropathological studyAnnals of Neurology, 1981
- “Top of the basilar” syndromeNeurology, 1980
- Neurological manifestations of fabry disease in female carriersAnnals of Neurology, 1978
- Enzymatic Defect in Fabry's DiseaseNew England Journal of Medicine, 1967
- Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjectsAmerican Journal Of Medicine, 1967
- The Renal Lesion in Angiokeratoma Corporis DiffusumBMJ, 1958