[Neurological manifestations of Fabry disease].
OBJECTIVE
To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease.


METHODS
Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells. Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults. Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity. Cerebrovascular involvement results from small-arteries lipid deposition, impairment in cerebrovascular reactivity, vertebrobasilar ectasia as well as vascular risk factors such as nephrogenic hypertension and cardiac disease. Fabry disease prevalence seems to be higher than previously described and currently many patients might be underdiagnosed.


CONCLUSIONS
Fabry disease must be included in the differential diagnosis of stroke in young people, particularly in those with criptogenic etiology, vertebrobasilar location and renal dysfunction. The diagnosis has important therapeutic implications since it is available a replacement therapy with agalsidase, a recombinant enzyme which has been effective in lipid tissue clearance and clinical improvement in Fabry patients.
Mendióroz
M
M
Laboratorio de Investigación Neurovascular, Unidad Neurovascular Servicio de Neurología, Hospital General Universitari Vall d'Hebron, 08035 Barcelona, Espana. mmendior@ir.vhebron.net
Fernández-Cadenas
I
I
Montaner
J
J
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003952:Diagnostic Imaging; D004311:Double-Blind Method; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000628:therapy; D006801:Humans; D006977:Hypertension, Renal / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D020765:Intracranial Arterial Diseases / Q000209:etiology; D007527:Isoenzymes / Q000627:therapeutic use; D007676:Kidney Failure, Chronic / Q000209:etiology; D009422:Nervous System Diseases / Q000188:drug therapy / Q000209:etiology*; D009437:Neuralgia / Q000209:etiology; D010292:Paresthesia / Q000209:etiology; D010641:Phenotype; D016032:Randomized Controlled Trials as Topic; D011994:Recombinant Proteins / Q000627:therapeutic use; D020521:Stroke / Q000209:etiology; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use
D007527:Isoenzymes; D011994:Recombinant Proteins; D000519:alpha-Galactosidase; C459420:agalsidase beta