Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency.
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.
Schiffmann
R
R
Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
Lahat
E
E
Schechter
A
A
D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000378:metabolism; D002648:Child; D005260:Female; D005334:Fever / Q000201:enzymology / Q000209:etiology*; D006801:Humans; D009135:Muscular Diseases / Q000201:enzymology / Q000209:etiology*; D010507:Periodicity
D002334:Carnitine O-Palmitoyltransferase