Kappler J, Watts R W, Conzelmann E, Gibbs D A, Propping P, Gieselmann V
Institut für Humangenetik der Universität, Bonn, Federal Republic of Germany.
Eur J Pediatr. 1991 Feb;150(4):287-90. doi: 10.1007/BF01955534.
We report on a family with a sibship of three children for whom the diagnosis of "an unusual form of metachromatic leukodystrophy (MLD)" had been suggested earlier. The patients had choreiform movements and dystonic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.
我们报告了一个有三个孩子的家庭，此前曾有人提出这三个孩子患有“一种不寻常形式的异染性脑白质营养不良（MLD）”。这些患者自童年起就有舞蹈样动作和肌张力障碍姿势，并伴有构音障碍。聚合酶链反应技术的应用使我们能够证明这三个兄弟姐妹具有假缺陷基因型（ASAp/ASAp）。不存在异常硫脂尿症，我们认为在这个家庭中，神经系统疾病和低芳基硫酸酯酶A活性彼此无关。MLD的诊断具有非常严重的意义，我们建议使用聚合酶链反应进行基因扩增以及与等位基因特异性寡核苷酸探针杂交来确证诊断，尤其是在没有异常硫脂尿症且腓肠神经活检中无法显示异染物质的情况下。
