Neonatal Arrhythmias Due to Deficiency of Carnitine Palmitoyltransferase II

Carnitine palmitoyltransferase II (CPT II) deficiency is a rare disorder of mitochondrial fatty acid oxidation characterized by a multisystemic course and early death during the neonatal period. Early recognition and diagnosis are important because a prompt treatment at birth may prolong survival. In this case report, we detected and corrected hypoglycemia and severe hyperkalemia in a collapsed neonate who manifested early heart rate anomalies and myocardial hypertrophy on cardiac ultrasound rapidly followed by death. Multiorgan degeneration, mostly in the heart and liver, was revealed by autopsy. The tandem mass and molecular genetic testing confirmed the diagnosis of CPT II deficiency. Our data document and confirm the severity of the disease. Laboratories alterations such as hyperkalemia and hypoglycemia in a term neonate with myocardial hypertrophy must always alert the physician to investigate and treat the metabolic disease.