title: Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder.
abstract: A term male newborn, appropriate for gestational age, developed hypothermia, severe cardiac dysrrhythmia, and nonoliguric hyperkalemia within 24 hours of birth. Despite the prenatal identification of cystic renal dysplasia without oligohydramnios, at birth, a solitary left leg vascular hemangioma and large palpable kidneys were the only anomalies. Gradually hypotonia, lethargy, and poor feeding developed and by 20 hours of age recurrent cardiac dysrrhythmias, myocardial dysfunction, and renal insufficiency with intermittent hyperkalemia were apparent. Episodes of apnea developed on day 7 followed by respiratory failure, recurrent cardiac dysrrhythmias, and death on day 12. Eventually laboratory and autopsy findings confirmed the diagnosis of lethal neonatal carnitine palmitoyltransferase II deficiency.
authors.affiliation: Division of Neonatology, University of Florida Health Science Center at Jacksonville, Florida 32209-6511, USA.
authors.forename: Renu
authors.initials: R
authors.lastname: Sharma
authors.forename: Anthony A
authors.initials: AA
authors.lastname: Perszyk
authors.forename: Donald
authors.initials: D
authors.lastname: Marangi
authors.forename: Carmela
authors.initials: C
authors.lastname: Monteiro
authors.forename: Savithri
authors.initials: S
authors.lastname: Raja
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003677:Deficiency Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006947:Hyperkalemia / Q000209:etiology; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D051437:Renal Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology; D014463:Ultrasonography
chemical_list: D002334:Carnitine O-Palmitoyltransferase