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

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

Pages

285-288

Issue

4

Volume

2

Citation

Schiffmann R; Lahat E; Schechter A, “Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency,” Pediatric Palliative Care Library, accessed December 3, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12276.

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