Morisawa Y, Fujieda M, Murakami N, Naruse K, Okada T, Morita H, Sawada K, Miyazaki J, Kurashige T, Nonaka I
Department of Pediatrics, Kochi Prefectural Seinan Hospital, Nakamura, Japan.
J Neurol Sci. 1998 Oct 8;160(2):175-9. doi: 10.1016/s0022-510x(98)00242-1.
In a male infant who had cardiomyopathy, generalized muscle weakness and increased serum creatine kinase levels, his muscle biopsy revealed myopathic changes with tiny intracytoplasmic vacuoles containing PAS-positive material and high acid phosphatase activity, but had normal acid maltase activity biochemically. These findings were consistent with those seen in lysosomal glycogen storage disease with normal acid maltase (Danon disease). Sarcolemmal indentations commonly seen in this disease were missing, but a complement membrane attack complex, C5b-9 was positive along the surface membrane of the muscle fibers as seen in X-linked vacuolar myopathy. The patient was on a respirator and died at 27 months of age from pneumonia and hypertrophic cardiomyopathy. Lysosomal glycogen storage disease with normal acid maltase may be manifested at birth with marked skeletal and cardiac involvement leading to death in early infancy.
在一名患有心肌病、全身肌肉无力且血清肌酸激酶水平升高的男婴中，其肌肉活检显示肌病性改变，有含有PAS阳性物质且酸性磷酸酶活性高的微小胞浆内空泡，但生化检查酸性麦芽糖酶活性正常。这些发现与酸性麦芽糖酶正常的溶酶体糖原贮积病（Danon病）所见相符。该疾病中常见的肌膜凹陷缺失，但如X连锁空泡性肌病所见，补体膜攻击复合物C5b-9沿肌纤维表面膜呈阳性。该患者使用呼吸机，27个月大时死于肺炎和肥厚型心肌病。酸性麦芽糖酶正常的溶酶体糖原贮积病可能在出生时就表现出明显的骨骼和心脏受累，导致婴儿早期死亡。
