Carotid Body Tumor as a Cause of Stroke.

We herein report a case of a 78-year-old woman who was admitted to our hospital due to a stroke with left-sided hemiparesis. Ultrasound of the carotid arteries showed a carotid body tumor on the bifurcation of the right common carotid artery, which was subsequently confirmed by a further neuroradiological investigation. Magnetic resonance imaging of the head confirmed an acute ischemic lesion located in the right periventricular region. The carotid body tumor (CBT) was surgically removed and confirmed on histopathology. Our case reveals the role of carotid ultrasound in the diagnosis of a CBT, which may be a potential cause of stroke.

Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.

Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the alpha-galactosidase A (alpha-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10-15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.