Unusual case of subarachnoid haemorrhage in patient with Fabry's disease: case report and literature review.

Michael T. Cormican, Thanasis Paschalis, Angela Viers, Cargill H. Alleyne

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
JournalBMJ Case Reports
Volume2012
StatePublished - Dec 1 2012
Externally publishedYes

Fingerprint

Fabry Disease
Subarachnoid Hemorrhage
Galactosidases
Aneurysm
Blood Vessels
Kidney
Mortality
Enzymes
globotriaosylceramide

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Unusual case of subarachnoid haemorrhage in patient with Fabry's disease : case report and literature review. / Cormican, Michael T.; Paschalis, Thanasis; Viers, Angela; Alleyne, Cargill H.

In: BMJ Case Reports, Vol. 2012, 01.12.2012.

Research output: Contribution to journalArticle

Cormican, Michael T. ; Paschalis, Thanasis ; Viers, Angela ; Alleyne, Cargill H. / Unusual case of subarachnoid haemorrhage in patient with Fabry's disease : case report and literature review. In: BMJ Case Reports. 2012 ; Vol. 2012.
@article{713d8b27d3984440a4dbc460d665d72d,
title = "Unusual case of subarachnoid haemorrhage in patient with Fabry's disease: case report and literature review.",
abstract = "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.",
author = "Cormican, {Michael T.} and Thanasis Paschalis and Angela Viers and Alleyne, {Cargill H.}",
year = "2012",
month = "12",
day = "1",
language = "English (US)",
volume = "2012",
journal = "BMJ Case Reports",
issn = "1757-790X",
publisher = "BMJ Publishing Group",

}

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 H.

PY - 2012/12/1

Y1 - 2012/12/1

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.

UR - http://www.scopus.com/inward/record.url?scp=84893355569&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84893355569&partnerID=8YFLogxK

M3 - Article

C2 - 22761201

VL - 2012

JO - BMJ Case Reports

JF - BMJ Case Reports

SN - 1757-790X

ER -