Fabry’s disease is a rare X-linked disorder caused by a deficient activity of the lysosomal nzyme alpha-galactosidase A. Progressive accumulation in lysosomes of the undegraded glycophospholipids leads to a multisystem disease with dermatological, ocular, renal, cardiac and neurological manifestations .Peripheral nerve involvement, neuropathic pain and chronic acroparesthesiaeare frequent and early onset disorders. They are due to the involvement of small nerve fibers, thus accounting the normality of electroneuromyography. Cochleo-vestibular and autonomic nervous system disorders are frequent. Besides, rare aseptic meningitis, central nervous system is mainly represented by cerebrovascular events: strokes, transient ischaemic attacks. Affecting essentially the posterior circulation, their mechanisms are not fully understood: progressive stenosis of small vessels by globotriasocylceramide deposits, arterial remodeling, endothelial dysfunction, pro-thrombotic states, cerebral, cerebral hypoperfusion due to dysautonomy, cardiac embolism. MRI shows numerous silent lesions, increasing with age, mainly in small perforant arteries: periventricular white matter, brain stem, cerebellum, basal ganglia. Pulvinar calcifications, due to an increase in cerebral hyperperfusion, could be specific of Fabry’s disease. Positron tomography shows a reduced cerebral flow velocity and impaired cerebral autoregulation, secondary to the glycosphingolipid storage in the endothelial cells. Enzyme replacement therapy must be carefully monitored.
© 2006 Elsevier Masson SAS. Tous droits réservés.