ABSTRACT

Xenomelia is a rare condition characterized by a persistent and intense desire for amputation of one or more healthy limbs. Some frequent clinical manifestations suggest the involvement of distinct neural substrates. Specifically, recent aetiopathological hypotheses about xenomelia propose a neurodevelopmental origin, highlighting the putative contribution of the right parietal lobe and right insula, known to subserve the construction of a coherent representation of the body as a whole. This literature review is aimed at analysing relevant findings about structural and functional brain correlates of xenomelia, focusing on the identification of key regions and their hemispheric distribution. Finally, implications about the potential link between xenomelia and phylogenetic development of the right parietal lobe are discussed. Despite a certain degree of heterogeneity and the spatial extension of networks involved, signs of partial right-sided lateralization of cortical nodes and left-sided lateralization of subcortical nodes emerged. Indeed, some areas—rsPL, riPL, PMC and rInsula—have been consistently found altered in xenomelia. In conclusion, the presence of both structural and functional multi-layered brain abnormalities in xenomelia suggests a multifactorial aetiology; however, as the prevalence of correlational studies, causal relationships remain to be investigated.

摘要

Xenomelia 是一种罕见的疾病，其特征是对一个或多个健康肢体的截肢有着持续而强烈的愿望。一些常见的临床表现表明涉及不同的神经基质。具体而言，最近关于异形体的病理学假设提出了神经发育起源，强调了右顶叶和右脑岛的假定贡献，已知有助于构建身体整体的连贯表示。这篇文献综述旨在分析有关异形体的结构和功能大脑相关性的相关发现，重点是识别关键区域及其半球分布。最后，讨论了关于异种瘤与右顶叶系统发育发育之间的潜在联系的意义。出现皮质淋巴结和皮质下淋巴结左侧侧化。事实上，一些区域——rsPL、riPL、PMC 和 rInsula——一直被发现在 xenomelia 中发生了改变。总之，异形体中结构和功能的多层脑异常的存在表明多因素病因；然而，由于相关研究的盛行，因果关系仍有待调查。