Dyck P J, Mellinger J F, Reagan T J, Horowitz S J, McDonald J W, Litchy W J, Daube J R, Fealey R D, Go V L, Kao P C, Brimijoin W S, Lambert E H
Brain. 1983 Jun;106 (Pt 2):373-90. doi: 10.1093/brain/106.2.373.
Three children, from different kinships, with generalized insensitivity to pain, showed unusual manifestations of congenital, presumably inherited, sensory and autonomic neuropathy. The first child appeared to have a syndrome resembling those previously described as congenital indifference to pain, congenital universal loss of pain sensation from infancy without other apparent neurological deficit. Unlike most types of hereditary sensory and autonomic neuropathies (types I, II, III), but like type IV, she had normal sensory nerve action potentials. Abnormalities of sudomotor function and of somatosensory evoked potentials were demonstrated. A severe decrease in the number of sural nerve A delta fibres and a small reduction in C fibres were demonstrated morphometrically. An abnormality of C fibres was confirmed by a marked reduction in nerve dopamine-beta-hydroxylase activity. The plasma and CSF concentrations of beta endorphins, substance P and several other neuropeptides and hormones were normal. Unequivocal evidence of a neuropathic lesion is provided by this patient; her disorder may be identified as the fifth type of hereditary sensory and autonomic neuropathy. The second patient had a congenital pansensory neuropathy and progressive retinitis pigmentosa. Whether the disorder is inherited and, if so, whether the retinitis pigmentosa results from the same or from a second genetic abnormality, is unclear. The third case has, in addition to what is usually seen in hereditary sensory and autonomic neuropathy, type II, an unusually severe kinaesthetic difficulty in oral food handling. The sural nerves of the second and third patients had fibre composition characteristic of hereditary sensory and autonomic neuropathy, type II, few or no myelinated fibres and reduced numbers of unmyelinated fibres.
三名来自不同亲属关系的儿童对疼痛普遍不敏感，表现出先天性（推测为遗传性）感觉和自主神经病变的异常表现。第一个孩子似乎患有一种类似于先前描述的先天性无痛觉综合征，即从婴儿期开始就普遍丧失痛觉，且无其他明显的神经功能缺损。与大多数类型的遗传性感觉和自主神经病变（I型、II型、III型）不同，但与IV型相似，她的感觉神经动作电位正常。已证实其汗腺运动功能和体感诱发电位存在异常。形态学检查显示腓肠神经Aδ纤维数量严重减少，C纤维数量略有减少。神经多巴胺-β-羟化酶活性显著降低证实了C纤维存在异常。β内啡肽、P物质以及其他几种神经肽和激素的血浆和脑脊液浓度均正常。该患者提供了明确的神经病变证据；她的疾病可能被确定为遗传性感觉和自主神经病变的第五型。第二名患者患有先天性全感觉神经病变和进行性视网膜色素变性。该疾病是否为遗传性，如果是，视网膜色素变性是由同一基因异常还是第二种基因异常导致，尚不清楚。第三名患者除了具有遗传性感觉和自主神经病变II型常见的症状外，在口腔处理食物时还存在异常严重的动觉困难。第二名和第三名患者的腓肠神经具有遗传性感觉和自主神经病变II型的纤维组成特征，即有髓纤维很少或没有，无髓纤维数量减少。
