Post-mortem MRI reveals CPT2 deficiency after sudden infant death.

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.

• 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
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 169 Issue 12 Pg. 1561-3 (Dec 2010) ISSN: 1432-1076 [Electronic] Germany
• PMID: 20661589 (Publication Type: Case Reports, Journal Article)

Chemical References

• acylcarnitine
• Carnitine O-Palmitoyltransferase
• Carnitine

Topics

• Carnitine (analogs & derivatives, blood)
• Carnitine O-Palmitoyltransferase (deficiency)
• Cause of Death
• Diagnosis
• Fatty Liver (pathology)
• Hepatomegaly (pathology)
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Metabolism, Inborn Errors (complications, diagnosis, pathology)
• Postmortem Changes
• Sudden Infant Death (diagnosis, etiology, pathology)