| Post-mortem MRI reveals CPT2 deficiency after sudden infant death. | |
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MedLine Citation:
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PMID: 20661589 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article Date: 2010-07-27 |
Journal Detail:
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Title: European journal of pediatrics Volume: 169 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-10-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 1561-3 Citation Subset: IM |
Affiliation:
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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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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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