Battistella P A, Midena E, Suppiej A, Carollo C
Department of Pediatrics, University of Padua, Italy.
Childs Nerv Syst. 1998 Mar;14(3):135-8. doi: 10.1007/s003810050196.
A 16-year-old boy with the classic or postinfantile type of Hallervorden-Spatz syndrome is described. Bilateral optic atrophy with visual loss but without retinal changes was the only presenting symptom. Mild cognitive impairment, behavioural disturbances and insidious extrapyramidal involvement appeared later. MRI showed marked symmetrical hypointensity of the globi pallidi and substantia nigra. This new observation suggests that the occurrence of optic atrophy in a patient with Hallervorden-Spatz syndrome should be regarded as noncoincidental and stresses the importance of an accurate neurological work-up in all adolescents with any unusual form of progressive optic atrophy.
本文描述了一名患有典型或婴儿后期型哈勒沃登-施帕茨综合征的16岁男孩。双侧视神经萎缩伴视力丧失但无视网膜改变是唯一的首发症状。轻度认知障碍、行为障碍和隐匿性锥体外系受累随后出现。磁共振成像显示苍白球和黑质明显对称低信号。这一新观察结果表明，哈勒沃登-施帕茨综合征患者出现视神经萎缩不应被视为偶然，并强调了对所有患有任何不寻常形式进行性视神经萎缩的青少年进行准确神经检查的重要性。
