Chalk C H, Mills K R, Jacobs J M, Donaghy M
Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK.
Neurology. 1990 Aug;40(8):1246-50. doi: 10.1212/wnl.40.8.1246.
We describe coexisting peripheral neuropathy and multiple symmetric lipomatosis in 4 of 7 siblings. The absence of either condition in 3 other generations of this family suggests autosomal recessive inheritance. None of the affected siblings were alcoholic, a factor some have proposed to explain the frequent occurrence of peripheral neuropathy in sporadic multiple symmetric lipomatosis. Serum lipid studies, including apoprotein A levels, were normal. Sural nerve biopsy from 1 patient showed nerve fiber loss, predominantly affecting large myelinated fibers. The relationship between myelin sheath thickness and axon diameter was normal, arguing that this neuropathy is not due to primary axonal atrophy.
我们描述了7名兄弟姐妹中有4人同时存在周围神经病变和多发性对称性脂肪瘤病。在这个家族的另外3代人中均未出现这两种病症中的任何一种，提示为常染色体隐性遗传。所有患病的兄弟姐妹均无酗酒情况，而一些人曾提出酗酒是散发性多发性对称性脂肪瘤病中周围神经病变频发的一个原因。包括载脂蛋白A水平在内的血脂研究结果均正常。1例患者的腓肠神经活检显示神经纤维缺失，主要影响粗大的有髓纤维。髓鞘厚度与轴突直径之间的关系正常，表明这种神经病变并非由原发性轴突萎缩所致。
