Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on...

In this report, we present a pediatric case of severe symptomatic hypermagnesemia resulting from the use of magnesium oxide as a laxative in a child undergoing continuous cyclic peritoneal dialysis for end-stage renal disease. The patient showed abnormal electrocardiography (ECG) findings, such as tall T waves, a widened QRS complex, and irregular conduction, which were initially misdiagnosed as hyperkalemia; later,...