A case of sudden unexpected infant death involving a homozygotic twin with the thermolabile CPT2 variant, accompanied by rotavirus infection and treatment with an antibiotic containing pivalic acid.

Abstract

We investigated a case of sudden unexpected death involving a 22-month-old male homozygotic twin infant. After both of the twins had suffered from gastroenteritis, one was found dead in his bed, but his brother survived and has since been healthy. Notably, only the deceased had been treated with an antibiotic containing pivalic acid, which may sometimes cause hypocarnitinemia. Postmortem computed tomography and medicolegal autopsy demonstrated severe liver steatosis, and subsequent genetic analysis revealed that the twin had the thermolabile variant of carnitine palmitoyl transferase 2 (CPT2). On the basis of these facts, we concluded that the cause of death had been fatty acid oxidation deficiency accelerated by an antibiotic containing pivalic acid and virus infection in this infant harboring the thermolabile genetic variant of CPT2. Although each factor alone was not fatal, their combination appeared to have resulted in sudden unexpected infant death.

• Authors: Yoichiro Takahashi, Rie Sano, Yoshihiko Kominato, Rieko Kubo, Keiko Takahashi, Tamiko Nakajima, Haruo Takeshita, Takashi Ishige
• Journal: Legal medicine (Tokyo, Japan) (Leg Med (Tokyo)) Vol. 22 Pg. 13-7 (Sep 2016) ISSN: 1873-4162 [Electronic] Ireland
• PMID: 27591533 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Chemical References

• Anti-Bacterial Agents
• Pentanoic Acids
• pivalic acid
• Carnitine O-Palmitoyltransferase

Topics

• Anti-Bacterial Agents (administration & dosage)
• Autopsy
• Carnitine O-Palmitoyltransferase (genetics)
• Homozygote
• Humans
• Infant
• Male
• Pentanoic Acids (administration & dosage)
• Rotavirus Infections
• Sudden Infant Death (etiology)
• Twins