title: [Generalized seizures as onset of Gitelman's syndrome].
abstract: Gitelman's syndrome is a rare autosomal recessive syndrome presenting with hypocalciuria, hypomagnesiemia and hypokalemic metabolic alkalosis. This case reports a patient admitted with generalized seizures with the above-mentioned biochemical abnormalities, thus representing a rare onset of Gitelman's syndrome which - to our knowledge - has not been described previously. The patient had a homozygote deletion of the CLC-KB gene, CLCNKB. The case was successfully treated by correcting hypokalemia and hypomagnesiemia with supplemental potassium and magnesium.
authors.affiliation: Børneafdeling L, Glostrup Hospital, DK-2600 Glostrup. Hvelplund@dadlnet.dk
authors.forename: Carolina
authors.initials: C
authors.lastname: Hvelplund
authors.forename: Eva Mosfeldt
authors.initials: EM
authors.lastname: Jeppesen
authors.forename: Henrik B
authors.initials: HB
authors.lastname: Mortensen
authors.forename: Peter
authors.initials: P
authors.lastname: Christiansen
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D005260:Female; D053579:Gitelman Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008274:Magnesium / Q000008:administration & dosage; D011188:Potassium / Q000008:administration & dosage; D012640:Seizures / Q000175:diagnosis*
chemical_list: D008274:Magnesium; D011188:Potassium