Spondylocostal Dystosis (a.k.a Jarcho Levin Syndrome) is a rare and Lethal disorder, that occurs in infants and new-borns. The genetic pattern of inheritance is autsomal recessive. It is characterized by rib and vertebral abnormalities and chest defects. These defects and abnormalities cause respiratory problems.
Spondylocostal Dysostosis is caused by a mutation in the DLL3 gene, which creates the DLL3 protein. The DLL3 protein helps regulate the NOTCH 1 Pathway which is a critical pathway that is used for embryonic development and vertebral DEVELOPMENT. Thus, a mutation in the DLL3 gene would affect embryonic development and cause vertebral abnormalities which is very serious.
This disease was first discovered and recorded in 1938 by Jarcho and Levin. They found cases of thoracic INSUFFICIENCY (inability to support lung growth and normal respiratory functions) caused by rib cage and vertebral abnormalities at the john hopkins hospital.
The incidence rate for this disease is 1 in 40,000 people. In the U.S, there are approximately 8,000 people with Spondylocostal Dysostosis. In the world, there are 200,000. people of spanish or puerto rican descent are affected more than other ethnicities.
The symptoms for Spondylocostal Dysostosis include hernia, respiratory problems, and a short trunk. It is diagnosed by finding abnormalities in the spine and rib cage and CHEST WALL. The prognosis for this disorder is death unless surgery is performed.
The Treatment is a surgery that reconstructs the chest wall. This is done to cover up the rib or chest defects and to contain any hernias. Surgeons do this by using the functional latissimus Dorsi Muscle transfer. THis means to take the muscle from the upper back and swing it over to cover up a defect. This reconstructs the chest wall and prevents any possible lung herniation and paradoxical respiration. Unfortunately, the spine can't be fixed the same way and the patients must seek further appointments through orthopedics, etc.
Current research on this disease shows that Spondylocostal Dysostosis causes other congenital problems like spina bifida occulta, polythelia, neural tube defects, and sprengel deformities. Also, In the past year, it has been discovered that LMA Anesthesia can be used to safely provide ventilation to a patient with SPondylocostal Dysostosis who is undergoing surgery. Since Spondylocostal Dysostosis patients have respiratory problems, if they are under general Anesthesia, it is possible for them to stop breathing completely. LMA ANESTHESIA can now be used to fix this problem.
Two people with Spondylocostal Dysostosis (Jarcho-Levin Syndrome)
Works Cited
“Anesthetic Management of a Patient With Jarcho-Levin Syndrome.” Medical Report of Haseki, doi:10.4274/haseki.2865. Accessed 5 Feb. 2017.
Case series of spondylocostal dysostosis and associated congenital malformations. Vol. 5, no. 3. Journal of Clinical Neontology, doi:10.4103/2249-4847.191271. Accessed 5 Feb. 2017.
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). 22 Dec. 2010. PubMed, doi:10.1007/s00247-010-1928-8. Accessed 5 Feb. 2017.
“DLL3 gene - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, 31 Jan. 2017, ghr.nlm.nih.gov/gene/DLL3. Accessed 5 Feb. 2017.
N., Muththukumar. “Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.” PubMed, www.ncbi.nlm.nih.gov/pubmed/26167215. Accessed 5 Feb. 2017.
Nature Genetics. Nature Publishing Group, www.nature.com/ng/journal/v24/n4/abs/ng0400_438.html. Accessed 5 Feb. 2017.
“The outcome of Jarcho–Levin syndrome treated with a functional latissimus dorsi flap – A series of three cases.” National Center for Biotechnology Information, vol. 45, no. 1, pp. 40-44, doi:10.4103/0970-0358.96582.
Suri, Mohnish, et al. “Jarcho-Levin Syndrome.” Indian Pediatrics, vol. 31, Sept. 1994, pp. 856-65, chrome extension://ecnphlgnajanjnkcmbpancdjoidceilk/content/web/viewer.html?file=http%3A%2F%2F182.18.156.68%2Fsep1994%2F1119.pdf. Accessed 5 Feb. 2017.
Credits:
Created with images by Caroline Davis2010 - "DNA"