Cerebrovascular manifestations in a female carrier of Fabry's disease

A female carrier of Fabry's disease with neurological manifestations is presented. An elective ophthalmological examination revealed a whorl keratopathy suggesting that the patient may be a carrier of Fabry's disease. She subsequently suffered two brainstem ischemic events. Cranial MRI examination performed revealed evidence of multiple subcortical strokes and diffuse white matter disease in her frontal lobes. Biochemical analysis confirmed that this patient was a carrier of Fabry's disease. The cerebrovascular manifestations may be secondary to tissue variability of mutant enzyme activity.