Concurrence of thyrotoxicosis and Gitelman's syndrome-associated hypokalemia-induced periodic paralysis

• Published in: Pediatric reports Vol. 4; no. 2; p. e18
• Main Authors: Imashuku, Shinsaku, Teramura-Ikeda, Tomoko, Kudo, Naoko, Kaneda, Shigehiro, Tajima, Toshihiro
• Format: Journal Article
• Language: English
• Published: Italy MDPI AG 02.04.2012; PAGEPress Publications
• Subjects: Adolescents; Aldosterone; Case Report; Case reports; Hypokalemia; hypokalemic periodic paralysis, thyrotoxicosis, Gitelman’s syndrome, adolescents, truancy; Mutation; Paralysis; Renin; Teenagers; Thyrotoxicosis; Truancy; Gitelman's syndrome; truancy; hypokalemic periodic paralysis; adolescents; thyrotoxicosis
• ISSN: 2036-7503; 2036-749X; 2036-7503
• DOI: 10.4081/pr.2012.e18

A 16-year-old Japanese boy with a history of truancy had been treated at a psychiatric clinic. When the patient was referred to us for hypokalemia-associated paralysis, the diagnosis of thyrotoxic hypokalemic periodic paralysis was made, common in Asian men. Subsequently, the patient was found to have persistently high plasma renin and aldos-terone levels. Thus, solute carrier family 12 member 3 gene (SLC12A3) analysis was performed. A novel missense homozygous mutation CTC->CAC at codon 858 (L858H) was found for which the patient was homozygous and his non-consanguineous parents heterozygote. These findings indicated that the patient developed hypokalemia-associated paralysis concurrently with thyrotoxicosis and Gitelman's syndrome. This case underscores the importance of careful examinations of adolescents with complaints of truancy as well as of precise determinations of the causes of hypokalemia-associated paralysis.