Refractory cerebral salt-wasting syndrome in a child with epilepsy encephalopathy (KCNT1 gene mutation) treated with fludrocortisone and hydrocortisone therapy: a case report and literature review

Abstract

Abstract Background: Fludrocortisone is a synthetic adrenocortical hormone with extensive and complex effects. Currently, fludrocortisone is not commercially available in China, so its safety and efficacy in children are unclear. In this report, the efficacy and safety of fludrocortisone combined with hydrocortisone in the treatment of refractory cerebral salt-wasting syndrome (CSWS) in children with epilepsy was investigated, and the references about the safety of clinical application of this drug were reviewed. Case presentation: We report a case of CSWS secondary to refractory epilepsy in a 5-year-old child with KCNT1 gene mutation who had recurrent convulsions for 5 years. Although intensive fluid and salt were supplied, as long as hydrocortisone was given for preserving sodium and water, his urine volume was not reduced. Therefore, fludrocortisone was added. The initial dose of fludrocortisone was 50μg and then increased to 75μg 5 days later. Urine volume and sodium excretion decreased and serum sodium level returned to normal after the combination of the two agents. However, hypokalemia occurred during the application of the two agents, and potassium supplementation was given according to daily monitoring of blood potassium. Conclusion: Children with cerebral salt-wasting syndrome, if their sodium level could not return to normal after hydrocortisone monotherapy, fludrocortisone can be considered. fludrocortisone should be increased and decreased slowly, and attention should be paid to decline in blood potassium.