[Generalized seizures as onset of Gitelman's syndrome].
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.
Hvelplund
Carolina
C
Børneafdeling L, Glostrup Hospital, DK-2600 Glostrup. Hvelplund@dadlnet.dk
Jeppesen
Eva Mosfeldt
EM
Mortensen
Henrik B
HB
Christiansen
Peter
P
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*
D008274:Magnesium; D011188:Potassium