Fatal rhabdomyolysis in 2 children with LPIN1 mutations

Jean Bergounioux; Anais Brassier; Caroline Rambaud; Olivier Bustarret; Caroline Michot; Laurence Hubert; Jean Baptiste Arnoux; Annie Laquerriere; Soumeya Bekri; Sophie Galene-Gromez; Damien Bonnet; Philippe Hubert; Pascale de Lonlay

doi:10.1016/j.jpeds.2012.02.033

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.

Authors

Jean Bergounioux¹, Anais Brassier, Caroline Rambaud, Olivier Bustarret, Caroline Michot, Laurence Hubert, Jean Baptiste Arnoux, Annie Laquerriere, Soumeya Bekri, Sophie Galene-Gromez, Damien Bonnet, Philippe Hubert, Pascale de Lonlay

Affiliation

¹ Pediatric Intensive Care Unit, Assistance publique des hôpitaux de Paris, Hospital Necker Enfants Malades, Paris, France. [email protected]

PMID: 22480698
DOI: 10.1016/j.jpeds.2012.02.033

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