Fatal carnitine palmitoyltransferase II deficiency in a newborn: New phenotypic features

We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly with biventricular hypertrophy, and ve ntricular arrhythmias. Cranial ultrasound revealed cystic dysplasia with se veral foci of hyperechogenicity within the right basal ganglia. Free carnit ine was markedly decreased in the urine and plasma with a pronounced elevat ion of plasma long-chain acylcarnitines. Fibroblast carnitine palmitoyltran sferase II activity was reduced to 26% and 38% in the father and mother, re spectively. The infant expired on day 5 of life from malignant ventricular tachy-arrhythmias. Diffuse lipid accumulation was evident at autopsy, inclu ding in the liver, heart, kidney, adrenal cortex, skeletal muscle, and lung s. This new case of infantile CPT-II deficiency illustrates the severity of the early onset form of CPT-II deficiency.