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Post-mortem MRI reveals CPT2 deficiency after sudden infant death |
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| 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 |
| Affiliation: | 1. Service de Pédiatrie, Université Paris XIII, H?pital Jean Verdier, Assistance Publique-H?pitaux de Paris, Avenue du 14 Juillet, 93140, Bondy, France 2. Laboratoire de Biochimie, H?pital Robert Debré, Paris, France 3. Centre de Référence des Maladies Héréditaires du Métabolisme, H?pital Necker Enfants Malades, Paris, France 6. Service de Radiologie, Université Paris XIII, H?pital Jean Verdier, Assistance Publique-H?pitaux de Paris, Avenue du 14 Juillet, 93140, Bondy, France 4. Laboratoire de Génétique Moléculaire, H?pital Necker Enfants Malades, Paris, France 5. Laboratoire de Biochimie, H?pital Bicètre, Paris, France |
| 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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