全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

Severe Generalized Spinal Cord Atrophy and Marfan Syndrome: A Case Report

DOI: 10.4236/oalib.1102165, PP. 1-6

Subject Areas: Neuroscience

Keywords: Generalized Spinal Cord Atrophy, Marfan Syndrome

Full-Text   Cite this paper   Add to My Lib

Abstract

Generalized spinal cord atrophy is rare. Several causes can be found responsible for this entity. Marfan syndrome (MS) is a clinically and allelically heterogeneous, heritable connective tissue disorder. Previous study has implicated neuromuscular involvement in this syndrome. Here, we report the description of a patient with generalized spinal cord atrophy, which may be attributed to MS. Though not all patients represent with spinal cord atrophy, our case suggests that generalized spinal cord atrophy may occur in a subgroup of MS patients. Our finding underscores the need to inform medical practitioners that neurologic involvement, especially generalized spinal cord atrophy, can occur in patients with MS. Further studies are warranted in order to better clarify this causal relationship association between MS and spinal cord atrophy.

Cite this paper

Liao, H. , Zhou, H. and Chen, L. (2015). Severe Generalized Spinal Cord Atrophy and Marfan Syndrome: A Case Report. Open Access Library Journal, 2, e2165. doi: http://dx.doi.org/10.4236/oalib.1102165.

References

[1]  Pietrini, V., Pinna, V. and Milone, F.F. (1990) Tangier Disease: Central Nervous System Impairment in a Case of Syringomyelia-Like Syndrome. Journal of the Neurological Sciences, 98, 245-250.
http://dx.doi.org/10.1016/0022-510X(90)90265-O
[2]  Hirabuki, N., Mitomo, M., Miura, T., Hashimoto, T., Kawai, R. and Kozuka, T. (1991) Computed Tomographic Myelography Characteristics of Spinal Cord Atrophy in Juvenile Muscular Atrophy of the Upper Extremity. European Journal of Radiology, 13, 215-219.
http://dx.doi.org/10.1016/0720-048X(91)90033-R
[3]  Groenink, M. and Mulder, B.J. (2015) How to Treat Marfan Syndrome: An Update. European Heart Journal, Published Online.
http://dx.doi.org/10.1093/eurheartj/ehv589
[4]  Voermans, N., Timmermans, J., van Alfen, N., Pillen, S., Op, D.A.J., Lammens, M., et al. (2009) Neuromuscular Features in Marfan Syndrome. Clinical Genetics, 76, 25-37.
http://dx.doi.org/10.1111/j.1399-0004.2009.01197.x
[5]  Pyeritz, R.E. and Mckusick, V.A. (1979) The Marfan Syndrome: Diagnosis and Management. The New England Journal of Medicine, 300, 772-777.
http://dx.doi.org/10.1056/NEJM197904053001406
[6]  Riva, A. and Bradac, G.B. (1995) Primary Cerebellar and Spino-Cerebellar Ataxia an MRI Study on 63 Cases. Journal of Neuroradiology, 22, 71-76.
[7]  Ueyama, H., Kumamoto, T., Asahara, K., Watanabe, S., Ando, Y., Mita, S., et al. (1993) Hereditary Motor and Sensory Neuropathy Type V with Spinal Cord Atrophy On Magnetic Resonance Imaging. European Neurology, 33, 399- 400.
http://dx.doi.org/10.1159/000116981
[8]  Szalay, E.A., Roach, J.W., Smith, H., Maravilla, K. and Partain, C.L. (1987) Magnetic Resonance Imaging of the Spinal Cord in Spinal Dysraphisms. Journal of Pediatric Orthopaedics, 7, 541-545.
http://dx.doi.org/10.1097/01241398-198709000-00008
[9]  Yamada, T., Tashiro, K., Moriwaka, F., Fujiki, N., Ito, K., Honma, S., et al. (1989) Two Cases of Familial Spastic Paraparesis with Amyotrophy of the Hands. No To Shinkei, 41, 583-588.
[10]  El, A.M., Medejel, A., Al, Z.K., Yahyaoui, M. and Chkili, T. (1990) Amyotrophic Lateral Sclerosis Syndrome of Syphilitic Origin. 5 Cases. Revue Neurologique (Paris), 146, 41-44.
[11]  Fedrizzi, E., Botteon, G., Inverno, M., Ciceri, E., D’Incerti, L. and Dworzak, F. (1993) Neurogenic Arthrogryposis Multiplex Congenita: Clinical and MRI Findings. Pediatric Neurology, 9, 343-348.
http://dx.doi.org/10.1016/0887-8994(93)90102-I
[12]  Uyama, E., Hirano, T., Ito, K., Nakashima, H., Sugimoto, M., Naito, M., et al. (1994) Adult Chediak-Higashi Syndrome Presenting as Parkinsonism and Dementia. Acta Neurologica Scandinavica, 89, 175-183.
http://dx.doi.org/10.1111/j.1600-0404.1994.tb01657.x
[13]  Snyder, R.D., King, J.N., Keck, G.M. and Orrison, W.W. (1991) MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex. American Journal of Neuroradiology, 12, 1095-1098.
[14]  Seichi, A., Hoshino, Y., Ikegawa, S., Tanaka, T., Yanagisako, Y., Kimitsuka, M., et al. (1993) Cervical Spinal Cord Atrophy Associated with Spina Bifida. Paraplegia, 31, 262-264.
http://dx.doi.org/10.1038/sc.1993.46
[15]  von Kodolitsch, Y. and Robinson, P.N. (2007) Marfan Syndrome: An Update of Genetics, Medical and Surgical Management. Heart, 93, 755-760.
http://dx.doi.org/10.1136/hrt.2006.098798
[16]  Dean, J.C. (2007) Marfan Syndrome: Clinical Diagnosis and Management. European Journal of Human Genetics, 15, 724-733.
http://dx.doi.org/10.1038/sj.ejhg.5201851

[17]  Jones, K.B., Sponseller, P.D., Erkula, G., Sakai, L., Ramirez, F., Dietz, H.R., et al. (2007) Symposium on the Musculoskeletal Aspects of Marfan Syndrome: Meeting Report and State of the Science. Journal of Orthopaedic Research, 25, 413-422.
http://dx.doi.org/10.1002/jor.20314
[18]  Ramirez, F. and Dietz, H.C. (2007) Marfan Syndrome: From Molecular Pathogenesis to Clinical Treatment. Current Opinion in Genetics & Development, 17, 252-258.
http://dx.doi.org/10.1016/j.gde.2007.04.006
[19]  Hasan, A., Poloniecki, J. and Child, A. (2007) Ageing in Marfan Syndrome. International Journal of Clinical Practice, 61, 1308-1320.
http://dx.doi.org/10.1111/j.1742-1241.2007.01407.x
[20]  Lampe, A.K. and Bushby, K.M. (2005) Collagen VI Related Muscle Disorders. Journal of Medical Genetics, 42, 673- 685.
http://dx.doi.org/10.1136/jmg.2002.002311
[21]  Isogai, Z., Ono, R.N., Ushiro, S., Keene, D.R., Chen, Y., Mazzieri, R., et al. (2003) Latent Transforming Growth Factor Beta-Binding Protein 1 Interacts with Fibrillin and Is a Microfibril-Associated Protein. The Journal of Biological Chemistry, 278, 2750-2757.
http://dx.doi.org/10.1074/jbc.M209256200
[22]  Barrison, I.G., Isenberg, D.A. and Kane, S.P. (1980) Arachnodactyly with Unusual Neuromyopathic and Skeletal Abnormalities. Journal of the Royal Society of Medicine, 73, 64-68.
[23]  Voermans, N.C., Drost, G., van Kampen, A., Gabreels-Festen, A.A., Lammens, M., Hamel, B.C., et al. (2006) Recurrent Neuropathy Associated with Ehlers-Danlos Syndrome. Journal of Neurology, 253, 670-671.
http://dx.doi.org/10.1007/s00415-005-0056-0
[24]  Camacho, V.O., Bertini, E., Zhang, R.Z., Petrini, S., Minosse, C., Sabatelli, P., et al. (2001) Ullrich Scleroatonic Muscular Dystrophy Is Caused by Recessive Mutations in Collagen Type VI. Proceedings of the National Academy of Sciences of the United States of America, 98, 7516-7521.
http://dx.doi.org/10.1073/pnas.121027598
[25]  Dietz, H.C. and Pyeritz, R.E. (1995) Mutations in the Human Gene for Fibrillin-1 (FBN1) in the Marfan Syndrome and Related Disorders. Human Molecular Genetics, 4, 1799-1809.
[26]  Fattori, R., Nienaber, C.A., Descovich, B., Ambrosetto, P., Reggiani, L.B., Pepe, G., et al. (1999) Importance of Dural Ectasia in Phenotypic Assessment of Marfan’s Syndrome. The Lancet, 354, 910-913.
http://dx.doi.org/10.1016/S0140-6736(98)12448-0

Full-Text


comments powered by Disqus

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133

WeChat 1538708413