title: Fatal rhabdomyolysis in 2 children with LPIN1 mutations.
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.
authors.affiliation: Pediatric Intensive Care Unit, Assistance publique des hôpitaux de Paris, Hospital Necker Enfants Malades, Paris, France. jean.bergounioux@nck.aphp.fr
authors.forename: Jean
authors.initials: J
authors.lastname: Bergounioux
authors.forename: Anais
authors.initials: A
authors.lastname: Brassier
authors.forename: Caroline
authors.initials: C
authors.lastname: Rambaud
authors.forename: Olivier
authors.initials: O
authors.lastname: Bustarret
authors.forename: Caroline
authors.initials: C
authors.lastname: Michot
authors.forename: Laurence
authors.initials: L
authors.lastname: Hubert
authors.forename: Jean Baptiste
authors.initials: JB
authors.lastname: Arnoux
authors.forename: Annie
authors.initials: A
authors.lastname: Laquerriere
authors.forename: Soumeya
authors.initials: S
authors.lastname: Bekri
authors.forename: Sophie
authors.initials: S
authors.lastname: Galene-Gromez
authors.forename: Damien
authors.initials: D
authors.lastname: Bonnet
authors.forename: Philippe
authors.initials: P
authors.lastname: Hubert
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
mesh_terms: D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D009687:Nuclear Proteins; D010711:Phosphatidate Phosphatase / Q000235:genetics* / Q000378:metabolism; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D009687:Nuclear Proteins; D004247:DNA; C485999:LPIN1 protein, human; D010711:Phosphatidate Phosphatase