title: Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.
abstract: Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids. It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features. Until now, only 22 affected families have been described in the literature. An increasing number of mutations are being identified in the CPT2 gene, with a distinct genotype-phenotype correlation in most cases. Herein we report a new case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. CPT II deficiency was suggested by acylcarnitine analysis of dried-blood on filter paper in the expanded newborn screening. Genetic analysis of the CPT2 gene identified the presence of a previously described mutation in homozygosity (c.534_558del25bpinsT). All lethal neonatal CPT II deficiency patients previously described presented severe symptoms during the first week of life, although this was not the case in our patient, who remained stable and without apparent vital risk during the first 11 days of life. The introduction of tandem mass spectrometry to newborn screening has substantially improved our ability to detect metabolic diseases in the newborn period. This case illustrates the value of expanded newborn screening in a neonate with an unusual clinical presentation, combining hydrocephalus and sudden death, that might not commonly lead to the suspicion of an inborn error of metabolism.
authors.affiliation: Clinical Laboratory, Carlos Haya University Hospital, Málaga, Spain. raquelyahyaoui@gmail.com
authors.forename: Raquel
authors.initials: R
authors.lastname: Yahyaoui
authors.forename: María Gracia
authors.initials: MG
authors.lastname: Espinosa
authors.forename: Celia
authors.initials: C
authors.lastname: Gómez
authors.forename: Anita
authors.initials: A
authors.lastname: Dayaldasani
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Rueda
authors.forename: Ana
authors.initials: A
authors.lastname: Roldán
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Lastra
authors.forename: Vidal
authors.initials: V
authors.lastname: Pérez
mesh_terms: D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology; D003645:Death, Sudden / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009018:Morocco / Q000208:ethnology; D009154:Mutation / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods; D013030:Spain; D053719:Tandem Mass Spectrometry
chemical_list: D002334:Carnitine O-Palmitoyltransferase