Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency
Title
Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency
Creator
Schiffmann R; Lahat E; Schechter A
Identifier
Publisher
Neuromuscular Disorders
Date
1992
Subject
Child; Female; Humans; Q3 Literature Search; Carnitine O-Palmitoyltransferase/deficiency/metabolism; Fever/enzymology/etiology; Muscular Diseases/enzymology/etiology; Periodicity
Description
A 7 1/2-yr-old girl suffered, since early infancy, severe recurrent myalgia during periodic attacks of fever, vomiting and pharyngitis. Neither myoglobinuria nor exercise-induced muscle pain was present. She was found to have carnitine palmitoyltransferase deficiency (CPTD) in leukocytes, fibroblasts and muscle. This case exemplifies the importance of looking for an associated metabolic etiology of recurrent febrile myalgia even in the absence of myoglobinuria.
1992
Rights
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
Journal Article
Citation List Month
Backlog
URL Address
Citation
Schiffmann R; Lahat E; Schechter A, “Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency,” Pediatric Palliative Care Library, accessed February 8, 2025, https://pedpalascnetlibrary.omeka.net/items/show/12276.