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NDT Plus Advance Access published online on February 4, 2009
NDT Plus, doi:10.1093/ndtplus/sfp009
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© The Author [2009]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

Hypokalaemia and dysmorphia, is there a link?

Stéphane Burtey1, Damien Sternberg2, Karine Nguyen3, Nicole Philip3, Yvon Berland1 and Bertrand Dussol1

1 Centre de Néphrologie et Transplantation Rénale, AP-HM, Université de la Méditerranée, Marseille
2 Biochemistry and Genetics, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Université Pierre et Marie Curie and INSERM, Paris
3 Service de Génétique médicale, Hopital de la Timone, AP-HM, Université de la Méditerranée, Marseille, France

Correspondence: Correspondence and offprint requests to: Stéphane Burtey, Centre de néphrologie et transplantation rénale, Hopital de la Conception, 135 bd Baille, 13005 Marseille, France. Tel: +33-491383042; Fax: +33-491383206; E-mail: stephaneb{at}ap-hm.fr


  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.

Key Words: 22q11 microdeletion syndrome • familial hypokalaemic periodic paralysis type 1 • hypocalcaemia • hypokalaemia

Received for publication January 9, 2009. Accepted for publication January 9, 2009.


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