title: [White matter lesions, young age, female--differential diagnosis of multiple sclerosis and juvenile stroke].
abstract: Fabry's disease is an X-chromosomal linked recessive lysosomal storage disease caused by a deficiency of α-galactosidase A. Accumulation of toxic levels of sphingolipids leads to metabolic dysfunction in various cell types (endothelial cells, myocytes, fibroblasts) and organs thus causing a variety of symptoms. Neurological manifestations include recurrent strokes and polyneuropathy, many patients complain of pain or vertigo. The presentation of these polymorphic symptoms mostly at young age often leads to incorrect diagnosis and mistreatment. Here we report two cases of female patients who both were misdiagnosed and thus mistreated for many years. These case-reports aim in increasing the awareness for Fabry's disease as a differential diagnosis, especially in young women presenting with white matter lesions.
authors.affiliation: Klinik und Poliklinik für Neurologie, Uniklinik Köln. pia.flossdorf@uk-koeln.de
authors.forename: P
authors.initials: P
authors.lastname: Flossdorf
authors.forename: C
authors.initials: C
authors.lastname: Kurschat
authors.forename: G R
authors.initials: GR
authors.lastname: Fink
authors.forename: R
authors.initials: R
authors.lastname: Sparing
mesh_terms: D000328:Adult; D000367:Age Factors; D001921:Brain / Q000473:pathology*; D003315:Cornea / Q000473:pathology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D000795:Fabry Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D009103:Multiple Sclerosis / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D009460:Neurologic Examination; D012737:Sex Factors; D020521:Stroke / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy