Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia

Pernille Mathiesen Tørring; Mathilde Faurholdt Lauridsen; Christine I Dali; Poul Erik Andersen; Lillian Bomme Ousager; Klaus Brusgaard; Anette Kjeldsen

doi:10.1002/ccr3.785

Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia

Clin Case Rep. 2017 Apr 13;5(6):805-808. doi: 10.1002/ccr3.785. eCollection 2017 Jun.

Authors

Pernille Mathiesen Tørring¹, Mathilde Faurholdt Lauridsen¹, Christine I Dali², Poul Erik Andersen³, Lillian Bomme Ousager¹, Klaus Brusgaard¹, Anette Kjeldsen^{4

5}

Affiliations

¹ Department of Clinical Genetics Odense University Hospital Sdr. Boulevard 29DK-5000 Odense C Denmark.
² Department of Clinical Genetics Rigshospitalet Blegdamsvej 9DK-2100 Copenhagen OE Denmark.
³ Department of Interventional Radiology Odense University Hospital Sdr. Boulevard 29DK-5000 Odense C Denmark.
⁴ Department of Otorhinolaryngology Odense University Hospital Sdr. Boulevard 29DK-5000 Odense C Denmark.
⁵ Department of Clinical Research University of Southern Denmark Odense Denmark.

Abstract

In case of a cerebral abscess without known cause, Pulmonary arteriovenous malformations (PAVM) screening should be performed. If PAVM(s) is identified, Hereditary hemorrhagic telangiectasia (HHT) is very likely and should always be considered. This case shows the benefit of familial screening for HHT and PAVM.

Keywords: Cerebral abscess; Osler‐Weber‐Rendu; endoglin; hereditary hemorrhagic telangiectasia; pulmonary arteriovenous malformation.

Publication types

Case Reports