Literature DB >> 19683902

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

G Reix1, C Stoven, F Darcel, P Gauthier-Lasalarié, V Plésiat-Trommsdorff, M Bintner, H Flodrops.   

Abstract

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.

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Year:  2009        PMID: 19683902     DOI: 10.1016/j.arcped.2009.07.003

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  1 in total

1.  [Sporadic cerebral cavernous malformation revealed by seizure: case study].

Authors:  Doumbia Amadou; Koné Youssouf; Maïga Oumou; Koné Abdoulaye; Diarra Bréhima; Dembélé Adama; Diallo Mamahadou
Journal:  Pan Afr Med J       Date:  2018-11-02
  1 in total

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