A Rare Cause of Seizure: Gitelman Syndrome

Gitelman syndrome is autosomal recessive disease which is a broad clinical spectrum with hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria caused by reabsorption of Na and Cl in distal tubule. Prevalence of this disease is thought to be 1.2 cases per million. Previously, tetanic convulsion as well as resistant epileptic convulsions has been reported representing to Gitelman Syndrome. The management of the disease varies according to the patients symptoms. An 8 years old girl with contraction on feet and hands which have started since 3 years old and intermittently repeated. The patient were referred to emergency service and diagnosed with the Gitelman syndrome. When the case was admitted to our clinic, she has tetanic convulsion. Her physical examinations with EEG and brain MRI findings were within normal limits. Laboratory findings included hypokalemia, normocalcemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. In genetic study which made thought to be Gitelman syndrome substantially was found homozygous mutation at SLC12A3 gene. Laboratory findings improved by treatment with potassium and magnesium and tetanic convulsion have not been repeated. In conclusion, we presented a patient with Gitelman syndrome who had a rarely seen disease causing tetanic convulsions.