Larnaout A, Ben Hamida M, Hentati F
Service de neurologie, Institute national de neurologie, Tunis, Tunisia.
Acta Neurol Scand. 1998 Dec;98(6):452-7. doi: 10.1111/j.1600-0404.1998.tb07329.x.
To report a novel clinicopathological observation of Nyssen-van Bogaert syndrome. To compare this observation with those previously reported. To discuss the nosological entity of this syndrome. To define the exact etiopathogenic mechanism of the neurogenic amyotrophy occurring at the late stage of the disease.
The patient was a 16-year-old girl who developed loss of vision and deafness at the age of 8. Ataxia with slight cerebellar signs were present by the age of 14. Over the next 2 years, she developed distal weakness and wasting of the legs with depressed ankle reflexes. She died at the age of 16. Deparaffinized sections of the brain, the brain stem, the cerebellum and the spinal cord were stained with haematoxylin & eosin (H&E), Nissl, Woelcke, Bodian, periodic acid-schiff (PAS), Sudan Black and Kluver Barera. Antibodies anti-GFAP, anti-MPB and anti-neurofilaments were used for immunohistochemical stainings following the avidin-biotin-peroxydase complex (ABC) methods.
The clinical pictures in our patient are similar to those previously reported in juvenile patients with optico-cochleo-dentate syndrome. Pathological study of the nervous system confirmed the diagnosis of Nyssen-van Bogaert syndrome and also showed a severe anterior horn, posterior horn and Clarke's column nerve cell degeneration with anterior root atrophy.
From these clinical and pathological data, the authors suggest to include Nyssen-van Bogaert syndrome among the group of multiple system atrophy, propose to divide this syndrome into 2 forms (an early infantile form and a juvenile form) and consider that the neurogenic amyotrophy occurring at the late stage of the disease in juvenile and adult patients is mainly caused by the second motor neuron involvement.
报告尼森 - 范博加特综合征一种新的临床病理观察结果。将此观察结果与先前报道的进行比较。讨论该综合征的疾病分类实体。明确疾病晚期发生的神经源性肌萎缩的确切病因机制。
患者为一名16岁女孩，8岁时出现视力丧失和耳聋。14岁时出现共济失调及轻微小脑体征。在接下来的2年里，她出现双下肢远端无力和萎缩，踝关节反射减弱。她于16岁去世。对大脑、脑干、小脑和脊髓的脱石蜡切片进行苏木精 - 伊红（H&E）、尼氏、韦尔克、博迪安、过碘酸希夫（PAS）、苏丹黑和克卢弗 - 巴雷拉染色。采用抗胶质纤维酸性蛋白（GFAP）、抗髓磷脂碱性蛋白（MPB）和抗神经丝抗体，按照抗生物素蛋白 - 生物素 - 过氧化物酶复合物（ABC）方法进行免疫组织化学染色。
我们患者的临床表现与先前报道的青少年视 - 蜗 - 齿状核综合征患者相似。神经系统的病理研究证实了尼森 - 范博加特综合征的诊断，还显示严重的前角、后角和克拉克柱神经细胞变性以及前根萎缩。
基于这些临床和病理数据，作者建议将尼森 - 范博加特综合征纳入多系统萎缩组，提议将该综合征分为两种类型（早发型婴儿型和青少年型），并认为青少年和成年患者疾病晚期发生的神经源性肌萎缩主要是由第二运动神经元受累引起的。
