title: Hypokalaemia and dysmorphia, is there a link?
abstract: A 15-year-old boy with quadriplegia and facial dysmorphia was referred to the emergency room. This was his first episode of tetraplegia. One maternal uncle had exhibited the same manifestation 20 years before. Blood test revealed severe hypokalaemia and mild hypocalcaemia. The clinical diagnosis revealed an Andersen-Tawil syndrome. Molecular tools allowed us to make the diagnosis of familial hypokalaemic periodic paralysis type 1 associated with a de novo 22q11.2 microdeletion syndrome. Our case report emphasizes the importance of molecular diagnosis in genetic diseases.
authors.affiliation: Centre de Néphrologie et Transplantation Rénale, AP-HM , Université de la Méditerranée , Marseille.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Burtey
authors.affiliation: Biochemistry and Genetics, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris , Université Pierre et Marie Curie and INSERM , Paris.
authors.forename: Damien
authors.initials: D
authors.lastname: Sternberg
authors.affiliation: Service de Génétique médicale, Hopital de la Timone , AP-HM, Université de la Méditerranée , Marseille , France.
authors.forename: Karine
authors.initials: K
authors.lastname: Nguyen
authors.affiliation: Service de Génétique médicale, Hopital de la Timone , AP-HM, Université de la Méditerranée , Marseille , France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.affiliation: Centre de Néphrologie et Transplantation Rénale, AP-HM , Université de la Méditerranée , Marseille.
authors.forename: Yvon
authors.initials: Y
authors.lastname: Berland
authors.affiliation: Centre de Néphrologie et Transplantation Rénale, AP-HM , Université de la Méditerranée , Marseille.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Dussol
keywords: 22q11 microdeletion syndrome; familial hypokalaemic periodic paralysis type 1; hypocalcaemia; hypokalaemia