关键词: Currarino syndrome caudal regression syndrome congenital spine malformation sacral agenesis sacro-caudal dysgenesis spina bifida

来  源:   DOI:10.3389/fvets.2023.1201484   PDF(Pubmed)

Abstract:
Two boxer dogs from the same litter were presented at 3 months of age for urinary and fecal incontinence. Both dogs had an abnormal tail consisting of a small stump, an atonic anal sphincter, and absent perineal reflex and sensation. Neurological evaluation was indicative of a lesion of the cauda equina or sacral spinal cord. Radiology and CT scan of the spine displayed similar findings in the two dogs that were indicative of sacral agenesis. Indeed, they had 6 lumbar vertebrae followed by a lumbosacral transitional vertebra, lacking a complete spinous process, and a hypoplastic vertebra carrying 2 hypoplastic sacral transverse processes as the only remnant of the sacral bone. Caudal vertebrae were absent in one of the dogs. On MRI, one dog had a dural sac occupying the entire spinal canal and ending in a subfascial fat structure. In the other dog, the dural sac finished in an extracanalar, subfascial, well-defined cystic structure, communicating with the subarachnoid space, and consistent with a meningocele. Sacral agenesis-that is the partial or complete absence of the sacral bones-is a neural tube defect occasionally reported in humans with spina bifida occulta. Sacral agenesis has been described in human and veterinary medicine in association with conditions such as caudal regression syndrome, perosomus elumbis, and Currarino syndrome. These neural tube defects are caused by genetic and/or environmental factors. Despite thorough genetic investigation, no candidate variants in genes with known functional impact on bone development or sacral development could be found in the affected dogs. To the best of the authors\' knowledge, this is the first report describing similar sacral agenesis in two related boxer dogs.
摘要:
来自同一窝的两只拳击手犬在3个月大时出现尿失禁和大便失禁。两只狗都有一条异常的尾巴,由一个小树桩组成,肛门括约肌失稳,和缺乏会阴反射和感觉。神经系统评估表明马尾或骶脊髓有病变。脊柱的放射学和CT扫描在两只狗中显示出相似的发现,表明the骨发育不全。的确,他们有6个腰椎,然后是腰骶椎,缺少完整的棘突,和一个发育不良的椎骨,带有2个发育不良的骶骨横突作为the骨的唯一残余。其中一只狗没有尾椎。核磁共振成像,一只狗的硬脑膜囊占据了整个椎管,并以筋膜下脂肪结构结束。另一只狗,硬脑膜囊在腔外完成,筋膜下,定义明确的囊性结构,与蛛网膜下腔沟通,与脑膜膨出一致.骶骨发育不全-部分或完全不存在-是一种神经管缺陷,偶尔在患有脊柱裂的人类中报道。骶骨发育不全已在人类和兽医学中被描述为与诸如尾骨消退综合征等病症有关,elumbisperosomuselumbis,和Currarino综合征.这些神经管缺陷是由遗传和/或环境因素引起的。尽管进行了彻底的基因调查,在受影响的狗中没有发现已知对骨发育或骶骨发育有功能影响的候选基因变异。据作者所知,这是第一份报告,描述了两个相关的拳击手犬的类似骶骨发育不全。
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