Sørensen J B, Parnas J
Acta Psychiatr Scand. 1979 May;59(5):449-61. doi: 10.1111/j.1600-0447.1979.tb00244.x.
The material presented comprises 44 patients with juvenile amaurotic family idiocy. The disease is distinguished from other types of gangliosidoses, and earlier clinical descriptions are reviewed. The median age of the patients at the onset of the diseases was 5.8 years and median duration of life was 18.8 years. It appears probable that the disease takes two different courses. Besides the earlier described accompanying phenomena, dystonic attack with oculogyre crises have been found in some patients, as well as extreme cases of bradycardia. In 77% of the patients psychotic manifestations have been found, chiefly in the form of frightening visual hallucinations. The pathogenesis and clinical observations of the psychoses are discussed and environmental factors are pointed out as contributing to the pathogenesis of the psychoses.
所呈现的资料包括44例青少年黑蒙性家族性白痴患者。该疾病与其他类型的神经节苷脂沉积症有所不同，并对早期的临床描述进行了回顾。患者发病时的中位年龄为5.8岁，中位寿命为18.8岁。该疾病似乎有两种不同的病程。除了早期描述的伴随现象外，在一些患者中还发现了伴有动眼危象的张力障碍发作以及极度心动过缓的病例。在77%的患者中发现了精神症状，主要表现为可怕的视幻觉。讨论了精神病的发病机制和临床观察结果，并指出环境因素对精神病的发病机制有影响。
