Marmiroli P, Cavaletti G, Bertagnolio B, Maccarini B, Tredici G
Divisione di Neurologia, Ospedale di Vimercate, Monza, Italy.
Acta Neurol (Napoli). 1990 Jun;12(3):184-92.
Metachromatic leukodystrophy is a genetical disorder due to a deficiency of arylsulphatase A activity. According to the age of onset of symptoms three different forms of the disease are described: late infantile, juvenile and adult types. We report the clinical, neuroimaging, biochemical and morphological features in a man in which the first symptoms ensued at the age of 39. In this patient, whose clinical manifestations were represented by "psychiatric" symptoms, the onset was particularly late in comparison with the large majority of the previously reported cases.
异染性脑白质营养不良是一种由于芳基硫酸酯酶A活性缺乏引起的遗传性疾病。根据症状出现的年龄，该疾病可分为三种不同类型：晚婴儿型、青少年型和成人型。我们报告了一名39岁男性患者的临床、神经影像学、生化和形态学特征。该患者的临床表现以“精神”症状为主，与绝大多数先前报道的病例相比，起病特别晚。
