TY - JOUR
T1 - Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency
AU - Schiffmann, Raphael
AU - Lahat, Eli
AU - Schechter, Abraham
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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.
KW - Myalgia
KW - carnitine palmitoyltransferase deficiency
KW - periodic disease
UR - http://www.scopus.com/inward/record.url?scp=0027051683&partnerID=8YFLogxK
U2 - 10.1016/0960-8966(92)90061-A
DO - 10.1016/0960-8966(92)90061-A
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AN - SCOPUS:0027051683
SN - 0960-8966
VL - 2
SP - 285
EP - 288
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 4
ER -