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伴有颅神经病变和角膜格子状营养不良的家族性淀粉样变性

Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.

作者信息

Boysen G, Galassi G, Kamieniecka Z, Schlaeger J, Trojaborg W

出版信息

J Neurol Neurosurg Psychiatry. 1979 Nov;42(11):1020-30. doi: 10.1136/jnnp.42.11.1020.

DOI:10.1136/jnnp.42.11.1020
PMID:228009
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC490396/
Abstract

Five siblings of a Danish family with slowly progressive involvement of the trigeminal, facial, glossopharyngeal, accessory, and hypoglossal nerves beginning at the age of 55-65 years were examined. All had asymptomatic corneal lattice dystrophy. Clinical and electrophysiological investigations also showed evidence of slight neurogenic involvement of the limbs. Conduction velocity along sensory nerves was normal but amplitude of sensory potentials was severely reduced suggesting an axonal affection which was confirmed by sural nerve biopsy. The neuropathy was secondary to amyloidosis revealed by skin and sural nerve biopsies.

摘要

对一个丹麦家庭的五名兄弟姐妹进行了检查，他们在55至65岁时开始出现三叉神经、面神经、舌咽神经、副神经和舌下神经的缓慢进行性受累。所有人都有无症状性角膜格子状营养不良。临床和电生理检查也显示出肢体有轻微神经源性受累的证据。感觉神经的传导速度正常，但感觉电位的幅度严重降低，提示轴索性病变，腓肠神经活检证实了这一点。皮肤和腓肠神经活检显示，这种神经病变继发于淀粉样变性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2faa/490396/e98525bc7c89/jnnpsyc00091-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2faa/490396/e98525bc7c89/jnnpsyc00091-0053-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2faa/490396/e98525bc7c89/jnnpsyc00091-0053-a.jpg

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本文引用的文献

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[Familial occurrence of a bulbar paralytic form of amyotropic lateral sclerosis with reticular corneal dystrophy and cutis hyperelastica in 3 sisters].[3姐妹中出现伴有网状角膜营养不良和皮肤弹性过度的延髓麻痹型肌萎缩侧索硬化症的家族性病例]
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A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.一种特殊形式的周围神经病变；家族性非典型全身性淀粉样变性，周围神经有特殊受累情况。
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Dissociated sensation in amylidosis. Compound action potential, quantitative histologic and teased-fiber, and electron microscopic studies of sural nerve biopsies.
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