Unexpected discovery of syndromic epilepsy during the genetic
exploration of a case of leukemia.
- Audrey Grain,
- adeline normand,
- caroline Thomas,
- camille debord,
- olivier pichon,
- Marie Bene,
- Marion Eveillard,
- olivier theisen
adeline normand
Centre Hospitalier Universitaire de Nantes
Author Profilecaroline Thomas
Centre Hospitalier Universitaire de Nantes
Author Profilecamille debord
Centre Hospitalier Universitaire de Nantes
Author Profileolivier pichon
Centre Hospitalier Universitaire de Nantes
Author ProfileMarion Eveillard
Centre Hospitalier Universitaire de Nantes
Author Profileolivier theisen
Centre Hospitalier Universitaire de Nantes
Author ProfileAbstract
A three-year-old girl with a history of epilepsy seizures was diagnosed
with acute lymphoblastic leukemia. A comprehensive genetic study of
blast cells led to the discovery of a constitutional deletion of the
PCDH19 gene. This description underlines how modern techniques of
molecular investigations in hematological disorders may lead to
unexpected findings.