Simon L T, Horoupian D S, Dorfman L J, Marks M, Herrick M K, Wasserstein P, Smith M E
Department of Neurology, Stanford University School of Medicine, CA.
Ann Neurol. 1990 Sep;28(3):349-60. doi: 10.1002/ana.410280308.
We describe 5 individuals (from three separate families) with a progressive neurological disorder characterized by sensorimotor peripheral polyneuropathy, cranial neuropathies (external ophthalmoplegia, deafness), and the syndrome of chronic intestinal pseudo-obstruction. Magnetic resonance imaging showed widespread abnormality of the cerebral and cerebellar white matter in the 2 patients studied. Autopsy examination in 3 revealed widespread endoneurial fibrosis and demyelination in the peripheral nervous system, possibly secondary to axonal atrophy, and poorly defined changes in cerebral white matter (leukoencephalopathy). The cranial nerves and spinal roots were less severely involved and the neurons in the brainstem and spinal cord were intact. The fatal gastrointestinal dysmotility was due to a severe visceral neuropathy. We suggest that these patients manifested a hereditary disorder with distinctive clinical, radiological, and neuropathological features, and propose the acronym POLIP to emphasize the distinctive tetrad of polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction.
我们描述了5名个体（来自三个不同家庭），他们患有一种进行性神经疾病，其特征为感觉运动性周围多神经病、颅神经病变（外展神经麻痹、耳聋）以及慢性肠假性梗阻综合征。磁共振成像显示，所研究的2例患者脑和小脑白质广泛异常。3例尸检显示，周围神经系统广泛存在神经内膜纤维化和脱髓鞘，可能继发于轴突萎缩，脑白质有不明确的改变（白质脑病）。颅神经和脊神经根受累较轻，脑干和脊髓中的神经元完整。致命的胃肠动力障碍是由于严重的内脏神经病变所致。我们认为这些患者表现出一种具有独特临床、放射学和神经病理学特征的遗传性疾病，并提出首字母缩写词POLIP以强调多神经病、眼肌麻痹、白质脑病和肠假性梗阻这一独特的四联征。
