Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report
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Abstract
Introduction: Chiari malformations are a group of congenital anomalies which involve the hindbrain and the cervical spinal canal. Case presentation: Here, we describe a patient who presented with acute diplopia and gait unsteadiness which was first deigned with Chiari malformation type-1. However due to progression of the ataxia the full neurologic evaluation was considered which established the diagnosis of spinocerebellar ataxia type 3 (Machado-Joseph-Disease). Conclusion: We aim to highlight the importance of careful examination in order to avoid misdiagnosis of even rare diseases.
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10. Wang YG, Du J, Wang JL, Chen J, Chen C, Luo YY, et al. Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic.J Neurol Sci. 2009;285(1-2):121-4.
11. Petracca M, Cerillo I, Montella S, Cerullo G, Carrieri PB. Idiopathic late-onset cerebellar ataxia with cerebellar atrophy in a patient diagnosed with Chiari I malformation: a case report. Neurol Sci. 2013;34(12):2235-7.
2. Masson C, Colombani JM. Chiari type 1 malformation and magnetic resonance imaging. Presse Med. 2005;34(21):1662-7.
3. Riveira C, Pascual J. Is Chiari type I malformation a reason for chronic daily headache. Curr Pain Headache Rep. 2007;11(1):53-5.
4. Wani AM, Zayyani NR, Al Miamini W, Khoujah AM, Alharbi Z, Diari MS. Arnold-Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest. BMJ Case Rep. 2011;2011:bcr0720103170.
5. Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M, et al. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics. J Genet Couns. 2003;12(4):297-311.
6. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9(9):885-94.
7. Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3(5):291-304.
8.Bettencourt C, Lima M. Machado-Joseph. Disease: from first descriptions to new perspectives. Orphanet J Rare Dis. 2011;6:35.
9.Margolis RL. The spinocerebellar ataxias: order emerges from chaos. Curr Neurol Neurosci Rep. 2002;2(5):447-56.
10. Wang YG, Du J, Wang JL, Chen J, Chen C, Luo YY, et al. Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic.J Neurol Sci. 2009;285(1-2):121-4.
11. Petracca M, Cerillo I, Montella S, Cerullo G, Carrieri PB. Idiopathic late-onset cerebellar ataxia with cerebellar atrophy in a patient diagnosed with Chiari I malformation: a case report. Neurol Sci. 2013;34(12):2235-7.
| Files | ||
| Issue | Vol 4 No 2 (2020): Spring (April) | |
| Section | Case (report / study) | |
| PMCID | PMC7163268 | |
| PMID | 32322798 | |
| Keywords | ||
| Ataxia Case Reports Chiari Malformation Spinocerebellar Atrophy | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Paybast S, Koosha M, Motamedi D, Habibi A. Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report. Front Emerg Med. 2019;4(2):e30.
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