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Post-mortem MRI reveals CPT2 deficiency after sudden infant death
Karim Bouchireb1, Anne-Marie Teychene, Odile Rigal
1Service de Pédiatrie, Université Paris XIII, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Avenue du 14 Juillet, 93140 Bondy, France.
European Journal of Pediatrics
|July 28, 2010
Summary
Inherited metabolic disorders can cause sudden infant death. Whole body MRI aided diagnosis of carnitine palmitoyltransferase deficiency in an infant, offering an alternative to autopsy.
Area of Science:
- Biochemistry
- Pediatrics
- Medical Imaging
Background:
- Inherited metabolic disorders (IMDs) represent a notable cause of sudden infant death.
- Early diagnosis is crucial for preventing further family occurrences.
Observation:
- A 10-month-old boy with sudden death during acute illness underwent whole body MRI due to parental refusal of autopsy.
- MRI revealed hepatomegaly with steatosis, suggesting metabolic dysfunction.
Findings:
- Neonatal Guthrie screening revealed an acylcarnitine profile indicative of type 2 carnitine palmitoyltransferase deficiency.
- This diagnosis confirmed an IMD as the likely cause of death.
Implications:
- Whole body MRI is a valuable tool for investigating sudden infant deaths when autopsy is declined.
- Identifying IMDs like CPT2 deficiency can inform genetic counseling and prevent future SIDS cases within families.
