[Stroke and cornea verticillata revealing Fabry's disease in a female]. / Accident vasculaire cérébral ischémique et cornée verticillée révélant une maladie de Fabry chez une femme.

INTRODUCTION: Fabry's disease is a X-linked lysosomal storage disorder caused by an alpha-galactosidase A deficiency responsible for the accumulation of glycosphingolipids. Males are more severely and frequently affected than females. We report the case of a female who presented a stroke revealing Fabry's disease. CASE REPORT: An 53-year-old woman, with cardiovascular risk factors and two previous transient ischemic attacks, was admitted with a brutal right hemiparisia. Cerebral MRI showed multiple white matter lesions in the cerebral hemispheres with multiple lacunar infarcts and ectatic vessels, cardiac echography revealed a hypertrophic concentric cardiomyopathy, and slit-lamp examination demonstrated a cornea verticillata. The sequencing of the alpha-galactosidase gene (GLA) revealed the c.150_151del mutation responsible for a loss of function. DISCUSSION: As in the present case, ophthalmological examination is very useful to determine Fabry's disease as a cause of young onset stroke. Females may be affected by X-linked disease, as the Fabry's disease. Fabry's disease among females is mainly characterized by the involvement of the nervous and cardiovascular systems. The specific treatment is based on an enzyme replacement therapy by recombinant enzyme with cardiovascular benefit. Despite the presence of cardiovascular risk factors, this case demonstrates the importance of thorough standardized investigations including ophthalmological examination of young patients with stroke.

The G79A polymorphism of protein Z gene is an independent risk factor for cerebral venous thrombosis.

BACKGROUND AND PURPOSE: Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of patients suffering from cerebral venous thrombosis (CVT). METHODS: We performed a retrospective genetic study comparing 100 healthy controls to 54 patients referred to our hemostasis unit after CVT occurrence. We compared the distribution of three PZ gene polymorphisms that may influence PZ plasma levels: A-13G in the promoter and G79A in intron F were tested using previously described techniques, and we developed a technique to evaluate the G-103A in intron A. RESULTS: The G79A polymorphism was significantly more frequent in patients than in controls (p = 0.012): the presence of at least one A allele led to an odds ratio of 2.57 with a 95 % confidence interval of 1.23-5.34. The A-13G polymorphism also showed a nonsignificant trend towards a higher prevalence in patients. CONCLUSION: The G79A polymorphism of the PZ gene was shown to be a new independent risk factor for cerebral venous thrombosis. Nevertheless, these results have to be confirmed by a prospective study including plasma PZ evaluation.