[Neuroimaging of hereditary hemorrhagic telangiectasia].
Hereditary Hemorrhagic telangiectasia is an autosomal dominant vascular disorder with high penetrance and variable expressivity. Most cases are caused by mutations in the endoglin gene on chromosome 9 (HHT type 1) or the activin receptor-like kinase 1 gene on chromosome 12 (HHT type 2). HHT is characterized by mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs). Neurological complications occur in 8 to 10% of the patients. Brain ischemia or abscess are often associated with pulmonary arteriovenous fistula. Cerebral or spinal arteriovenous malformations are frequent but have a lower risk of haemorrhage than sporadic AVMs and routine screening should not be practiced in adult patients. Routine screening should be discussed for children with a familial history of cerebral haemorrhage and/or HHT type 1.
Bracard
S
S
Service de Neuroradiologie diagnostique et thérapeutique, Hôpital central, 29 avenue Maréchal de Lattre de Tassigny, 54035 Nancy. s.bracard@chu-nancy.fr
Schmitt
E
E
Kremer
S
S
Anxionnat
R
R
Picard
L
L
D001927:Brain Diseases / Q000175:diagnosis* / Q000209:etiology*; D002533:Cerebral Angiography; D006801:Humans; D008279:Magnetic Resonance Imaging; D018579:Patient Selection; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*