Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency

Raphael Schiffmann*, Eli Lahat, Abraham Schechter

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)285-288
Number of pages4
JournalNeuromuscular Disorders
Volume2
Issue number4
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • Myalgia
  • carnitine palmitoyltransferase deficiency
  • periodic disease

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