Wolfram syndrome: A neuropathological study
Wolfram syndrome: A neuropathological study
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DOI：
10.1007/s004010050635
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发表时间：
1997-04-01
影响因子：
12.7
通讯作者：
Ferrer, I
中科院分区：
文献类型：
--
作者：
Genis, D;Davalos, A;Ferrer, I
对一例37岁的Wolfram综合征患者进行了神经病理检查。主要神经病理表现为嗅球和嗅束萎缩、视神经萎缩和交叉、外侧膝状核神经元丢失，主要累及小细胞层，上丘萎缩，耳蜗神经纤维丢失，耳蜗核和下丘神经元轻度丢失，轻度橄榄桥小脑萎缩，锥体束脱髓鞘。这些症状分别与嗅觉障碍、视力丧失、听力丧失、小脑症状和体征、巴宾斯基征和阵挛有关。下丘脑视前区和室旁区轻度神经元丢失和胶质增生，脊髓轻度运动神经元丢失没有达到功能受损的阈值，尽管离散球核中神经元的丢失可能是进食和窒息的晚期发病原因。记忆丧失、人格障碍和前额叶释放的迹象以及丘脑前核和背内侧核神经元的轻度丢失之间的关系尚不清楚。
Neuropathological examination was carried out on a patient aged 37 years who had suffered from Wolfram syndrome. Atrophy of the olfactory bulbs and tracts, atrophy of the optic nerves and chiasm, loss of neurons in the lateral geniculate nuclei mainly affecting the small cell layers, atrophy of the superior colliculus, loss of fibers in the cochlear nerve and mild loss of neurons in the cochlear nuclei and inferior colliculus, mild olivopontocerebellar atrophy, and demyelination of the pyramidal tracts were the main neuropathological findings. These correlated with anosmia, loss of vision, loss of hearing, cerebellar symptoms and signs, Babinski sign, and clonus, respectively, clinically observed in this patient. Mild neuron loss and gliosis in the preoptic and paraventricular area of the hypothalamus and mild motor neuron loss in the spinal cord did not reach thresholds of impaired function, although loss of neurons in discrete bulbar nuclei might have accounted for the late episode of food aspiration and suffocation. The relationship between memory loss, personality disturbances, and signs of prefrontal release and mild loss of neurons in the anterior and dorsomedial nuclei of the thalamus remains unclear.