title: [About two cases of hypokaliemic periodic paralysis].
abstract: We report on two cases of hypokaliemic periodic paralysis due to a potassium shift from the extracellular to the intracellular compartment of skeletal muscle cells. The first case occurred in a 15-year-old boy who experienced rapid onset flaccid tetraplegia without neurological abnormalities. Physical exam revealed facial dysmorphy, and EKG a long QT. Biology evidenced shift hypokalemia that was quickly reversible after administration of intravenous potassium. After exclusion of Andersen-Tawil syndrom, hypokalemic familial paralysis (Westphall disease) was diagnosed by molecular genetic testing (disease-causing mutation in CACNA1S) in the proband and in three other family members. The second case occurred in a 24-year-old male who experienced rapid onset flaccid tetraplegia due to intracellular potassium shift that was quickly reversible after administration of intravenous potassium. Biology revealed thyrotoxicosis due to Grave's disease. To the best of our knowledge, this is the first case described in a people from pacific origin. The clinical, biological, and electromyographic findings of the most frequent causes of periodic paralysis are underlined as well as the molecular genetic diagnosis in familial forms.
authors.affiliation: Service de néphrologie-hémodialyse-transplantation rénale, hôpital de La Conception, 147, boulevard Baille, 13385 Marseille cedex 05, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Burtey
authors.forename: Henri
authors.initials: H
authors.lastname: Vacher-Coponat
authors.forename: Yvon
authors.initials: Y
authors.lastname: Berland
authors.forename: Bertrand
authors.initials: B
authors.lastname: Dussol
mesh_terms: D000293:Adolescent; D000328:Adult; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010375:Pedigree