Faber J, Fich A, Steinberg A, Steiner I, Granot E, Alon I, Rachmilevitz D, Freier S, Gilai A
Gastroenterology. 1987 Mar;92(3):786-90. doi: 10.1016/0016-5085(87)90033-3.
Chronic neuropathic intestinal pseudoobstruction is a rare entity, characterized by recurrent episodes of bowel obstruction without a mechanical obstructive cause. We report five members of two Jewish-Iranian families in whom chronic neuropathic intestinal pseudoobstruction was associated with an identical and unique progressive severe neuronal disease. It appeared within the first two decades of life. The disease consisted of external ophthalmoplegia, ptosis, and severe sensory and motor peripheral neuropathy. Three patients also had neuronal hearing loss. There was no evidence of central nervous system involvement and all patients were mentally intact. The combined disease was confirmed by radiologic, electrophysiologic, and histologic studies. Specific nutritional deficiencies, toxic elements, and systemic diseases affecting both the gastrointestinal tract and the nervous system were ruled out. It seems that these patients suffer from an autosomal recessive, presently unrecognized variant, of chronic neuropathic intestinal pseudoobstruction. In a patient with severe peripheral neuropathy of unknown etiology associated with symptoms suggestive of intestinal obstruction, the possibility of chronic neuropathic intestinal pseudoobstruction has to be considered.
慢性神经性肠假性梗阻是一种罕见病症，其特征为反复出现肠梗阻发作但无机械性梗阻原因。我们报告了两个犹太 - 伊朗家庭的五名成员，他们患有慢性神经性肠假性梗阻，并伴有一种相同且独特的进行性严重神经疾病。该疾病出现在生命的前二十年。疾病表现为眼外肌麻痹、上睑下垂以及严重的感觉和运动性周围神经病变。三名患者还患有神经性听力丧失。没有中枢神经系统受累的证据，所有患者智力均正常。通过放射学、电生理学和组织学研究确诊了这种合并疾病。排除了特定的营养缺乏、有毒元素以及影响胃肠道和神经系统的全身性疾病。看来这些患者患有常染色体隐性遗传的、目前尚未被认识的慢性神经性肠假性梗阻变体。对于病因不明且伴有提示肠梗阻症状的严重周围神经病变患者，必须考虑慢性神经性肠假性梗阻的可能性。
