Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, Tanaka M, Hatakeyama S
Hum Pathol. 1985 Feb;16(2):193-7. doi: 10.1016/s0046-8177(85)80071-x.
The case of a male infant with marked deposition of glycogen, confined to the heart, is presented. Clinically, prominent cardiomegaly had been evident from immediately after birth until the infant's death due to heart failure. There were no significant clinical manifestations in other organs, including liver and skeletal muscle, during the clinical course. Autopsy revealed abnormal deposition of normally structured glycogen in the heart, but no deposition in the liver, skeletal muscle, or other systemic organs. This unusual pattern of glycogen deposition was also confirmed by measurement of the glycogen content of each organ. This is the first report of glycogen storage disease confined to the heart. Enzymatic analysis revealed no decrease in the activities of acid maltase, amylo-1,6-glucosidase, and phosphorylase in the heart or in the liver or skeletal muscle. However, phosphorylase kinase activity was not detectable in the heart, although high activity levels were observed in the liver and skeletal muscle. In this case the inborn error of metabolism responsible for the isolated deposition of glycogen in heart muscle may have been due to a deficiency of cardiac phosphorylase kinase.
本文报告了一例仅局限于心脏出现显著糖原沉积的男婴病例。临床上，自出生后即刻起直至婴儿因心力衰竭死亡，明显可见显著的心脏肥大。在临床病程中，包括肝脏和骨骼肌在内的其他器官均无明显临床表现。尸检显示心脏中存在正常结构糖原的异常沉积，但肝脏、骨骼肌及其他全身器官均无沉积。通过测量各器官的糖原含量，也证实了这种不寻常的糖原沉积模式。这是首例局限于心脏的糖原贮积病报告。酶分析显示，心脏、肝脏或骨骼肌中的酸性麦芽糖酶、淀粉-1,6-葡萄糖苷酶和磷酸化酶的活性均未降低。然而，心脏中未检测到磷酸化酶激酶活性，尽管在肝脏和骨骼肌中观察到了较高的活性水平。在该病例中，导致糖原仅在心肌中孤立沉积的先天性代谢缺陷可能是由于心脏磷酸化酶激酶缺乏所致。
