Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
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.
Bouchireb
Karim
K
Service de Pédiatrie, Université Paris XIII, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Avenue du 14 Juillet, 93140 Bondy, France.
Teychene
Anne-Marie
AM
Rigal
Odile
O
de Lonlay
Pascale
P
Valayannopoulos
Vassili
V
Gaudelus
Joel
J
Sellier
Nicolas
N
Bonnefont
J P
JP
Brivet
Michèle
M
de Pontual
Loic
L
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
C116917:acylcarnitine; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine