Sabatelli M, Mignogna T, Lippi G, Servidei S, Manfredi G, Ricci E, Bertini E, Lo Monaco M, Tonali P
Neurological Institute, Catholic University, Rome, Italy.
Acta Neuropathol. 1994;87(4):337-42. doi: 10.1007/BF00313601.
We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that "hypermyelination neuropathy" with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy.
我们研究了来自两个家系的三名患者，他们患有可能为常染色体隐性遗传的早发性遗传性运动和感觉神经病（III型遗传性运动感觉神经病，HMSN）。腓肠神经活检的形态学研究显示髓鞘异常增生。两名接受长期随访的成年患者分别在28岁和22岁时失去行走能力，并出现严重的颅神经受累。我们的观察结果表明，早发性“髓鞘增生性神经病”是一种进展性疾病，长期预后较差。在一个家系中，该疾病在两个不同性别的同胞中出现，但父母未患病，这与常染色体隐性遗传一致。以往报告中未描述过家族性髓鞘增生性神经病病例。将这种情况的形态学特征与其他形式的髓鞘增生性神经病进行了比较。
