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Cerebral abscesses among D anish patients with hereditary haemorrhagic telangiectasia
Author(s) -
Kjeldsen A. D.,
Tørring P. M.,
Nissen H.,
Andersen P. E.
Publication year - 2014
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/ane.12167
Subject(s) - danish , telangiectasia , medicine , dermatology , ataxia telangiectasia , brain abscess , pediatrics , abscess , surgery , genetics , biology , dna , dna damage , philosophy , linguistics
Background Hereditary haemorrhagic telangiectasia ( HHT ) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations ( PAVM s), which due to paradoxical embolization may cause cerebral abscess. Objective To estimate the risk of cerebral abscess among patients with HHT . Methods All patients with HHT included in the D anish HHT data base, between J anuary 1995 and O ctober 2012, have been clinically evaluated for the presence of neurological symptoms and history of previous cerebral abscess. Results A total of 337 patients with HHT have been included in the D anish database. Of these, 264 were screened for the presence of PAVM . In 117 patients, a PAVM was diagnosed; among these, we identified nine patients with a history of cerebral abscess. The prevalence of cerebral abscess among patients with HHT and PAVM was therefore 7.8%. The patients with a history of cerebral abscess were genetically evaluated, and seven had ENG mutations, one had an ALK 1 mutation, and in one case, a mutation could not be identified. Conclusion Patients with untreated PAVM have a considerable risk of sustaining cerebral abscesses. A cerebral abscess may be the first symptom leading to an HHT diagnosis. Patients with unexplained cerebral abscess should be evaluated for HHT and PAVM .