Braathen G J, Sand J C, Russell M B
Faculty Division Akershus University Hospital, University of Oslo, Oslo, Norway.
Acta Neurol Scand. 2006 Dec;114(6):403-6. doi: 10.1111/j.1600-0404.2006.00713.x.
A pair of monozygotic twin brothers were referred due to hereditary peripheral neuropathy resembling late onset Charcot-Marie-Tooth (CMT).
Diagnostic classification of the twin pair.
Clinical, neurological, genetical and neurophysiological examination, and molecular genetic testing.
The clinic and neurophysiology was compatible with CMT disease with late onset. Molecular genetic analysis excluded mutations in PMP22, connexin32, MPZ, LITAF and MFNZ genes, as well as duplication and deletion of PMP22.
The twins were employed in PVC production and developed symptoms after 14 years of massive exposure. We think that the heavy exposure to various neurotoxic compounds caused symptoms that mimic late-onset CMT. However, the twins had distal dysesthesia which is unusual in inherited neuropathies. This illustrates the importance of an occupational history even in the molecular genetic era.
一对单卵双胞胎兄弟因遗传性周围神经病前来就诊，该疾病类似迟发性夏科-马里-图斯病（CMT）。
对这对双胞胎进行诊断分类。
进行临床、神经学、遗传学和神经生理学检查以及分子遗传学检测。
临床和神经生理学表现与迟发性CMT病相符。分子遗传学分析排除了PMP22、连接蛋白32、MPZ、LITAF和MFNZ基因的突变，以及PMP22的重复和缺失。
这对双胞胎受雇于聚氯乙烯生产行业，在大量接触14年后出现症状。我们认为，大量接触各种神经毒性化合物导致了类似迟发性CMT的症状。然而，这对双胞胎有远端感觉异常，这在遗传性神经病中并不常见。这说明了即使在分子遗传学时代职业史的重要性。
