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01-12-2010 | Short Report

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

Authors: Karim Bouchireb, Anne-Marie Teychene, Odile Rigal, Pascale de Lonlay, Vassili Valayannopoulos, Joel Gaudelus, Nicolas Sellier, J. P. Bonnefont, Michèle Brivet, Loic de Pontual

Published in: European Journal of Pediatrics | Issue 12/2010

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.

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Title: Post-mortem MRI reveals CPT2 deficiency after sudden infant death
Authors: Karim Bouchireb
Anne-Marie Teychene
Odile Rigal
Pascale de Lonlay
Vassili Valayannopoulos
Joel Gaudelus
Nicolas Sellier
J. P. Bonnefont
Michèle Brivet
Loic de Pontual
Publication date: 01-12-2010
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 12/2010
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-010-1261-0

At a glance: The STEP trials

Springer Medicine

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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