Literature DB >> 1324819

Fabry's disease presenting with stroke.

R P Grewal1, N W Barton.   

Abstract

An atypical patient with Fabry's disease is presented. This patient developed a left internal capsule lacunar stroke at the age of 25. The etiology of the stroke was unclear. At the age of 29 he was discovered to have corneal lesions suggestive of Fabry's disease but had no other clinical features typical of Fabry's disease. The diagnosis of Fabry's disease was confirmed biochemically. Fabry's disease should be included in the differential diagnosis of stroke of unclear etiology in young male patients.

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Year:  1992        PMID: 1324819     DOI: 10.1016/0303-8467(92)90079-i

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN: 0303-8467            Impact factor:   1.876


  3 in total

Review 1.  Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages.

Authors:  Saskia M Rombach; Bouwien E Smid; Gabor E Linthorst; Marcel G W Dijkgraaf; Carla E M Hollak
Journal:  J Inherit Metab Dis       Date:  2014-02-04       Impact factor: 4.982

2.  Stroke in Fabry's disease.

Authors:  R P Grewal
Journal:  J Neurol       Date:  1994-01       Impact factor: 4.849

3.  Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.

Authors:  K D MacDermot; A Holmes; A H Miners
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

  3 in total

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