Book contents
- Uncommon Causes of Stroke
- Uncommon Causes of Stroke
- Copyright page
- Contents
- List of Contributors
- Preface
- PART I: INFECTIOUS AND INFLAMMATORY CONDITIONS
- PART II: HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
- 16 PULMONARY ARTERIOVENOUS MALFORMATIONS
- 17 HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER–WEBER–RENDU DISEASE)
- 18 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)
- 19 CEREBROVASCULAR COMPLICATIONS OF FABRY’S DISEASE
- 20 MARFAN’S SYNDROME
- 21 PSEUDOXANTHOMA ELASTICUM
- 22 EHLERS-DANLOS SYNDROME
- 23 PROGERIA
- 24 MELAS AND OTHER MITOCHONDRIAL DISORDERS
- 25 STURGE-WEBER SYNDROME
- 26 VON HIPPEL-LINDAU DISEASE
- 27 ANEURYSMS
- 28 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
- 29 CEREBRAL CAVERNOUS MALFORMATIONS AND DEVELOPMENTAL VENOUS ANOMALIES
- 30 CEREBROVASCULAR MANIFESTATIONS OF NEUROFIBROMATOSIS
- 31 MENKES DISEASE (KINKY HAIR DISEASE)
- 32 WYBURN-MASON SYNDROME
- PART III: VASCULAR CONDITIONS OF THE EYES, EARS, AND BRAIN
- PART IV: DISORDERS INVOLVING ABNORMAL COAGULATION
- PART V: SYSTEMIC DISORDERS THAT ALSO INVOLVE THE CEREBROVASCULAR SYSTEM
- PART VI: NONINFLAMMATORY DISORDERS OF THE ARTERIAL WALL
- PART VII: VENOUS OCCLUSIVE CONDITIONS
- PART VIII: VASOSPASTIC CONDITIONS AND OTHER MISCELLANEOUS VASCULOPATHIES
- PART IX: OTHER MISCELLANEOUS CONDITIONS
- Index
19 - CEREBROVASCULAR COMPLICATIONS OF FABRY’S DISEASE
from PART II: - HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
Published online by Cambridge University Press: 06 January 2010
Book contents
- Uncommon Causes of Stroke
- Uncommon Causes of Stroke
- Copyright page
- Contents
- List of Contributors
- Preface
- PART I: INFECTIOUS AND INFLAMMATORY CONDITIONS
- PART II: HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
- 16 PULMONARY ARTERIOVENOUS MALFORMATIONS
- 17 HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER–WEBER–RENDU DISEASE)
- 18 CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)
- 19 CEREBROVASCULAR COMPLICATIONS OF FABRY’S DISEASE
- 20 MARFAN’S SYNDROME
- 21 PSEUDOXANTHOMA ELASTICUM
- 22 EHLERS-DANLOS SYNDROME
- 23 PROGERIA
- 24 MELAS AND OTHER MITOCHONDRIAL DISORDERS
- 25 STURGE-WEBER SYNDROME
- 26 VON HIPPEL-LINDAU DISEASE
- 27 ANEURYSMS
- 28 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
- 29 CEREBRAL CAVERNOUS MALFORMATIONS AND DEVELOPMENTAL VENOUS ANOMALIES
- 30 CEREBROVASCULAR MANIFESTATIONS OF NEUROFIBROMATOSIS
- 31 MENKES DISEASE (KINKY HAIR DISEASE)
- 32 WYBURN-MASON SYNDROME
- PART III: VASCULAR CONDITIONS OF THE EYES, EARS, AND BRAIN
- PART IV: DISORDERS INVOLVING ABNORMAL COAGULATION
- PART V: SYSTEMIC DISORDERS THAT ALSO INVOLVE THE CEREBROVASCULAR SYSTEM
- PART VI: NONINFLAMMATORY DISORDERS OF THE ARTERIAL WALL
- PART VII: VENOUS OCCLUSIVE CONDITIONS
- PART VIII: VASOSPASTIC CONDITIONS AND OTHER MISCELLANEOUS VASCULOPATHIES
- PART IX: OTHER MISCELLANEOUS CONDITIONS
- Index
Summary
Fabry's disease (FD) or angiokeratoma corporis diffusum, is a rare X-linked inherited disorder of glycosphingolipid metabolism. This chapter analyzes the clinical, radiologic, and pathologic features of hemizygote and heterozygote FD patients and cerebrovascular involvement based on a comprehensive review of literature. Neuropathologic autopsy findings are consistent with prior events of cerebral ischemia and, rarely, hemorrhage. In FD, in addition to cerebral ischemia, dolichoectatic intracranial arteries may also cause neurovascular compression syndromes. Triventricular hydrocephalus related to dolichoectatic basilar artery has been reported in hemizygotic and heterozygotic patients. Magnetic resonance imaging (MRI) studies show progression of white-matter lesion load despite enzyme replacement therapy (ERT), although these patients did not show clinical neurologic progression. Administration of antiplatelet agents may help to prevent the atherosclerotic and thromboembolic effects of damage to the vascular endothelium, but experience with this approach is limited and the use of oral anticoagulant agents should also be considered.
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- Uncommon Causes of Stroke , pp. 123 - 130Publisher: Cambridge University PressPrint publication year: 2008