Schiffmann R, Lahat E, Schechter A
Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
Neuromuscul Disord. 1992;2(4):285-8. doi: 10.1016/0960-8966(92)90061-a.
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.
一名7岁半的女孩自婴儿早期起，在发热、呕吐和咽炎的周期性发作期间遭受严重的复发性肌痛。既没有肌红蛋白尿，也没有运动诱发的肌肉疼痛。在白细胞、成纤维细胞和肌肉中发现她患有肉碱棕榈酰转移酶缺乏症（CPTD）。这个病例说明了即使在没有肌红蛋白尿的情况下，寻找复发性发热性肌痛相关代谢病因的重要性。
