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  3. Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.

Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.

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DOI
10.48350/183337
Publisher DOI
10.3389/fvets.2023.1201484
PubMed ID
37303726
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.
Date Issued
2023
Publication Type
Article
Subject(s)
500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health
Subjects
Currarino syndrome caudal regression syndrome congenital spine malformation sacral agenesis sacro-caudal dysgenesis spina bifida
Language(s)
en
Author(s)
Dell'Apa, Diletta
Fumeo, Martina
Volta, Antonella
Bernardini, Marco
Fidanzio, Francesca
Buffagni, Valentina
Christen, Matthias Theo  
Institut für Genetik  
Jagannathan, Vidya  
Institut für Genetik  
Leeb, Tosso  
Institut für Genetik  
Bianchi, Ezio
Additional Credits
Institut für Genetik  
Journal
Frontiers in veterinary science
Publisher
Frontiers Media
ISSN
2297-1769
Access(Rights)
open.access
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