TY - JOUR
T1 - Unusual case of subarachnoid haemorrhage in patient with Fabry's disease
T2 - Case report and literature review
AU - Cormican, Michael T.
AU - Paschalis, Thanasis
AU - Viers, Angela
AU - Alleyne, Cargill Herley
PY - 2012
Y1 - 2012
N2 - Fabry's disease is a rare, X linked recessive disease affecting 1 in 40 000 persons. The symptoms result from a lack of or a non-functioning enzyme α galactosidase, which leads to globotriaosylceramide accumulation in the walls of blood vessels. Mortality is generally from cardiac or renal complications and death from subarachnoid haemorrhage is distinctly rare. The authors report a man with Fabry's disease who died after subarachnoid haemorrhage from a progressively enlarging fusiform basilar aneurysm.
AB - Fabry's disease is a rare, X linked recessive disease affecting 1 in 40 000 persons. The symptoms result from a lack of or a non-functioning enzyme α galactosidase, which leads to globotriaosylceramide accumulation in the walls of blood vessels. Mortality is generally from cardiac or renal complications and death from subarachnoid haemorrhage is distinctly rare. The authors report a man with Fabry's disease who died after subarachnoid haemorrhage from a progressively enlarging fusiform basilar aneurysm.
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UR - http://www.scopus.com/inward/citedby.url?scp=84865201865&partnerID=8YFLogxK
U2 - 10.1136/bcr.02.2012.5727
DO - 10.1136/bcr.02.2012.5727
M3 - Article
C2 - 22761201
AN - SCOPUS:84865201865
SN - 1757-790X
JO - BMJ Case Reports
JF - BMJ Case Reports
ER -