SEVERE PERIODIC FEBRILE MYALGIA IN INFANCY DUE TO CARNITINE PALMITOYLTRANSFERASE DEFICIENCY

被引：2

作者：

SCHIFFMANN, R

LAHAT, E

SCHECHTER, A

机构：

[1] HADASSAH UNIV HOSP, PEDIAT NEUROL UNIT, JERUSALEM, ISRAEL

[2] ASSAF HAROFE MED CTR, DEPT PEDIAT, ZERIFIN, ISRAEL

[3] HADASSAH UNIV HOSP, DEPT PEDIAT, JERUSALEM, ISRAEL

来源：

NEUROMUSCULAR DISORDERS | 1992年 / 2卷 / 04期

关键词：

MYALGIA; CARNITINE PALMITOYLTRANSFERASE DEFICIENCY; PERIODIC DISEASE;

D O I：

10.1016/0960-8966(92)90061-A

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：285 / 288

页数：4

共 13 条

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