Paschke E, Trinkl G, Erwa W, Pavelka M, Mutz I, Roscher A
Clin Genet. 1986 May;29(5):417-24. doi: 10.1111/j.1399-0004.1986.tb00514.x.
We describe a male infant of Austrian ancestry, the main clinical features including attacks of dyspnea due to laryngomalacia, severe mental and motor retardation, pronounced splenohepatomegaly and vacuolisation of peripheral lymphocytes. The clinical condition deteriorated progressively and the child died at the age of 21 months. Phase and electron microscopy of cultured skin fibroblasts showed multiple vacuoles and inclusions suggestive of a lysosomal storage disorder. Increased excretion of free sialic acid was demonstrated by resorcinol staining after routine thin-layer screening for urinary oligosaccharides. Quantitative analyses of urine, leucocytes and cultured fibroblasts revealed 10 to 30-fold increased concentration of free sialic acid. In addition, 3-fold elevated amounts of sialyloligosaccharides were found in the urine. The activities of a variety of lysosomal enzymes, including sialidase, were normal. Our case is compared with infantile sialic acid storage disease recently observed by other authors. The close convergence of clinical, morphological and biochemical signs support the concept of a distinct lysosomal disease entity. The basic defect is so far unknown.
我们描述了一名具有奥地利血统的男婴，其主要临床特征包括因喉软化症导致的呼吸困难发作、严重的智力和运动发育迟缓、明显的脾肝肿大以及外周淋巴细胞空泡化。临床状况逐渐恶化，患儿于21个月龄时死亡。培养的皮肤成纤维细胞的相位和电子显微镜检查显示有多个空泡和包涵体，提示存在溶酶体贮积症。在对尿寡糖进行常规薄层筛查后，通过间苯二酚染色证实游离唾液酸排泄增加。对尿液、白细胞和培养的成纤维细胞进行定量分析发现，游离唾液酸浓度增加了10至30倍。此外，尿液中唾液酸寡糖的含量升高了3倍。包括唾液酸酶在内的多种溶酶体酶的活性均正常。我们的病例与其他作者最近观察到的婴儿唾液酸贮积病进行了比较。临床、形态学和生化指标的密切吻合支持了一种独特的溶酶体疾病实体的概念。目前尚不清楚其根本缺陷。
