Fatal rhabdomyolysis in 2 children with LPIN1 mutations

J Pediatr. 2012 Jun;160(6):1052-4. doi: 10.1016/j.jpeds.2012.02.033. Epub 2012 Apr 4.

Abstract

We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Child
  • Child, Preschool
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation*
  • Nuclear Proteins
  • Phosphatidate Phosphatase / genetics*
  • Phosphatidate Phosphatase / metabolism
  • Rhabdomyolysis / diagnosis
  • Rhabdomyolysis / genetics*
  • Rhabdomyolysis / metabolism

Substances

  • Nuclear Proteins
  • DNA
  • LPIN1 protein, human
  • Phosphatidate Phosphatase