Document Detail

Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
MedLine Citation:
PMID:  20661589     Owner:  NLM     Status:  In-Process    
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.
Karim Bouchireb; Anne-Marie Teychene; Odile Rigal; Pascale de Lonlay; Vassili Valayannopoulos; Joel Gaudelus; Nicolas Sellier; J P Bonnefont; Michèle Brivet; Loic de Pontual
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Publication Detail:
Type:  Journal Article     Date:  2010-07-27
Journal Detail:
Title:  European journal of pediatrics     Volume:  169     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-10-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1561-3     Citation Subset:  IM    
Service de Pédiatrie, Université Paris XIII, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Avenue du 14 Juillet, 93140 Bondy, France.
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