A newborn female infant with neonatal lethal multiorgan carnitine palmitoyltransferase II (CPT II) defiency is reported from the Departments of Medicine and Pathology, Children’s Hospital, Boston, MA; and the Department of Pharmacology and Medicine, Case Western Reserve University, VA Medical Center, Cleveland, OH. The infant was referred at 4 days of age because of hyperammonemia and seizures. Pregnancy was complicated by oligohydramnios. Ultrasound on day 1 showed enlarged kidneys with cortical cysts. Cranial ultrasound revealed a periventricular cyst. On day 3, seizures with prolonged apnea were followed by unresponsiveness. Pupils were fixed and dilated. Dysmorphic features included microcephaly, long fingers and toes, extra digital creases, and joint contractures. The liver enlarged, and the infant died at 10 days with cardiac and renal failure. Long-chain acylcarnitines were elevated in blood and multiple tissues, and lipid accumulations and deficiency of CPT II activity were found in heart, liver, muscle, and kidney tissue. [1]
COMMENT. The authors cite two previous reports of families with neonatal CPT II deficiency associated with multiple malformations. Autopsy findings include diffuse lipid accumulation, cardiomegaly, dysplastic kidneys, and brain migration defects. They conclude that this metabolic disorder should be included in the differential diagnosis of neonates dying with dysmorphism and multiple organ malformations, along with Zellweger syndrome, other disorders of peroxisomal B-oxidation, and glutaric acidemia type II.