Sudden infant death from neonate carnitine palmitoyl transferase II deficiency

- We present the case of CPT2 deficiency, extremely rare in forensic practice.
- HE and Sudan III staining showed that significant steatosis of important organs.
- TMS analysis and genetic testing were performed to estimate the CPT2 deficiency.
- A parental genetic testing can be helpful in the diagnosis of this disease.

A full-term female baby born to parents who gave birth three years prior to a girl who survived only 31 h postpartum died 36 h after birth. An autopsy showed that the heart was markedly hypertrophic (32 g). Microscopically, the myocardium, liver and kidney cells exhibited extensive vacuolar degeneration. Sudan III staining was positive in cardiac muscle, liver and kidney tissue. Tandem mass spectrometry analysis revealed that the deceased patient had a carnitine palmitoyl transferase II (CPT2) deficiency or a carnitine-acylcarnitine translocase deficiency. Genetic testing of the parents revealed heterozygous CPT2 mutations, indicating that their offspring would have a 25% chance of having a CPT2 deficiency. Therefore, we speculated that CPT2 deficiency might be the cause of death based on the results of staining, tandem mass spectrometry analysis and parental genetic testing.