title: Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
abstract: Inherited metabolic disorders are the cause of a small but significant number of sudden infant deaths in infants. We report on a boy who suddenly died at 10 months of age during an acute illness. Parents declined autopsy; nevertheless, they accepted a whole body MRI, which revealed hepatomegaly with steatosis. Acylcarnitine profile of a blood sample from neonatal Guthrie screening led to the diagnosis of type 2 carnitine palmitoyltransferase deficiency. To conclude, whole body MRI is useful in the investigation of some inherited metabolic causes of sudden infant death, which might prevent future deaths in the family. It is a good alternative when autopsy is refused.
authors.affiliation: Service de Pédiatrie, Université Paris XIII, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Avenue du 14 Juillet, 93140 Bondy, France.
authors.forename: Karim
authors.initials: K
authors.lastname: Bouchireb
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Teychene
authors.forename: Odile
authors.initials: O
authors.lastname: Rigal
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Joel
authors.initials: J
authors.lastname: Gaudelus
authors.forename: Nicolas
authors.initials: N
authors.lastname: Sellier
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: Michèle
authors.initials: M
authors.lastname: Brivet
authors.forename: Loic
authors.initials: L
authors.lastname: de Pontual
mesh_terms: D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D002423:Cause of Death; D003933:Diagnosis; D005234:Fatty Liver / Q000473:pathology; D006529:Hepatomegaly / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000473:pathology; D011180:Postmortem Changes; D013398:Sudden Infant Death / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology
chemical_list: C116917:acylcarnitine; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine