Details

Autor(en) / Beteiligte

• Reix, G
• Stoven, C
• Darcel, F
• Gauthier-Lasalarié, P
• Plésiat-Trommsdorff, V
• Bintner, M
• Flodrops, H

Titel

Familial cerebral cavernomas: discovery made during an epileptic seizure in a 10-year-old girl

Ist Teil von

• Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2009-10, Vol.16 (10), p.1337-1340

Ort / Verlag

France

Erscheinungsjahr

2009

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• The assessment of an epileptic seizure in a 10-year-old girl originating from Reunion Island revealed a case of familial cerebral cavernous angioma. Multiple hemorrhagic lesions seen during a cerebral magnetic resonance imaging (MRI) scan was suggestive of cavernomas. A cerebral MRI scan in the father showed multiple asymptomatic lesions, thus confirming the familial nature. A genetic study carried out on the patient and her father confirmed the presence of a mutation of the KRIT1 gene with an autosomal dominant transmission. In these disorders, an MRI scan in the patient's parents offers great diagnostic advantages. This screening leads to precautionary measures that are easy to put in place.