De Mulder C, Martin J J
Acta Neurol Belg. 1978 May-Jun;78(3):162-6.
A new adult case of metachromatic leucodystrophy (MLD) is reported. The earliest clinical signs are psychiatric in contra-distinction with the prevalent neurological signs observed in infantile or juvenile MLD. Although the occurrence of psychiatric features in adolescents or adults does not at first suggest MLD, it is easy to ascertain the diagnosis by combining the enzymatic assay of arylsulfatase A on leucocytes or cultured fibroblasts with the morphological study of nerve bundles. Such a discovery has of course a major importance in genetic counselling.
报告了一例新的成人异染性脑白质营养不良(MLD)病例。最早的临床症状是精神方面的,这与婴儿型或少年型MLD中常见的神经症状不同。虽然青少年或成人出现精神症状一开始并不提示MLD,但通过结合白细胞或培养的成纤维细胞中芳基硫酸酯酶A的酶活性测定与神经束的形态学研究,很容易确诊。当然,这一发现对遗传咨询具有重要意义。