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目的 探讨糖原贮积症伴脂质贮积症的临床与病理特点。 方法 报告１例患者，结合文献复习，描述其临床与病理特征。 结果 本病多见于婴儿或青少年女性，进行性或反复性广泛性肌张力减低，四肢近端肌无力或萎缩，可伴有肌肉酸痛。病理特点为肌纤维出现弥漫性空泡，Ⅰ型肌纤维受累可比Ⅱ型肌纤维明显，电镜下发现糖原和脂滴贮积于肌纤维内。 结论 当患者因条件受限、无法进行生化检查时，光、电镜结合的活检肌组织形态学观察有助于诊断。
Objective To investigate the clinical and pathological features of glycogen storage disease with lipid storage disease. Methods One patient was reported and combined with literature review to describe its clinical and pathological features. Results The disease more common in infants or adolescent women, progressive or repetitive extensive hypotonia, weakness or atrophy of the proximal limb muscles, may be associated with muscle soreness. Pathological features of diffuse vacuoles appear muscle fibers, type Ⅰ muscle fiber involvement than type Ⅱ muscle fibers significantly, under the electron microscope found glycogen and lipid droplets stored in the muscle fibers. Conclusion When the patient is unable to carry out the biochemical examination because of the limited conditions, the morphological observation of the biopsy muscle combined with light and electron microscope is helpful for the diagnosis.