Servidei S, Riepe R E, Langston C, Tani L Y, Bricker J T, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S
J Pediatr. 1987 Jul;111(1):51-6. doi: 10.1016/s0022-3476(87)80341-4.
A 7 1/2-year-old girl had exercise intolerance and exertional dyspnea. Four months later, congestive heart failure developed, with recurrent chylous pleural effusions, and she died at age 8 1/2 years. Endomyocardial biopsy tissue showed abundant PAS-positive, diastase-resistant cytoplasmic deposits. Similar inclusions were seen in muscle, skin, and liver specimens. Postmortem studies showed that the abnormal polysaccharide was especially abundant in heart and muscle, but was also present in all other tissues, including the central nervous system. Glycogen isolated from heart, muscle, and spinal cord showed a shift of the iodine spectrum toward higher than normal wavelengths. Branching enzyme activity was lacking in the muscle biopsy specimen and in all postmortem tissues; glycogenolytic enzymes had normal activities. These studies show that cardiomyopathy can be the first symptom of generalized branching enzyme deficiency and that the degree of accumulation of the abnormal polysaccharide may vary in different tissues.
一名7岁半的女孩出现运动不耐受和劳力性呼吸困难。4个月后，发展为充血性心力衰竭，并伴有反复的乳糜性胸腔积液，她于8岁半时死亡。心内膜心肌活检组织显示大量PAS阳性、抗淀粉酶的胞质沉积物。在肌肉、皮肤和肝脏标本中也发现了类似的包涵体。尸检研究表明，异常多糖在心脏和肌肉中尤其丰富，但在包括中枢神经系统在内的所有其他组织中也存在。从心脏、肌肉和脊髓中分离出的糖原显示碘光谱向高于正常波长的方向移动。肌肉活检标本和所有尸检组织中均缺乏分支酶活性；糖原分解酶活性正常。这些研究表明，心肌病可能是全身性分支酶缺乏的首发症状，并且异常多糖的积累程度在不同组织中可能有所不同。
