脊髓纵裂畸形与全内脏转位：病例报告及文献复习
Split cord malformation and situs inversus totalis: case report and review of the literature.
作者信息
Tubbs R Shane, Wellons John C, Oakes W Jerry
机构信息
Department of Cell Biology, University of Alabama at Birmingham, and Pediatric Neurosurgey, Children's Hospital, Birmingham, AL 35233, USA.
出版信息
Childs Nerv Syst. 2004 Feb;20(2):131-4. doi: 10.1007/s00381-003-0857-3. Epub 2003 Nov 26.
INTRODUCTION
Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected.
CASE REPORT
The authors report a patient with situs inversus totalis and type II split cord malformation. This patient had no complaints and presented with scoliosis.
CONCLUSIONS
Recent compelling evidence from animal models and human case reports has led to hypotheses that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related. Confirmation from additional case reports of situs inversus and split cord malformation could prove useful in determining a genetic locus for split cord malformations or implicating various chemical agents that are known to produce situs inversus as potential causative factors in the production of split cord malformations.
引言
内脏反位是一种罕见的内脏转位情况，其中脊柱轴很少受到影响。
病例报告
作者报告了一名患有完全性内脏反位和II型脊髓纵裂畸形的患者。该患者无主诉，表现为脊柱侧弯。
结论
来自动物模型和人类病例报告的最新有力证据引发了一些假设，即中线缺陷和左右侧缺陷（如内脏反位）在病因学上相关。更多关于内脏反位和脊髓纵裂畸形的病例报告的证实，可能有助于确定脊髓纵裂畸形的基因位点，或表明已知会导致内脏反位的各种化学物质是脊髓纵裂畸形产生的潜在致病因素。
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