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一名青年男性患3型脊髓小脑萎缩合并Chiari畸形:病例报告

Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report.

作者信息

Paybast Sepideh, Koosha Mohsen, Motamedi Dina, Habibi Arman

机构信息

Neurology Department, Bou-ali-Sina Hospital, Qazvin University of Medical Sciences, Qazvin, Iran.

Neurosurgery Department, Imam Hossin Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Adv J Emerg Med. 2019 Aug 18;4(2):e30. doi: 10.22114/ajem.v0i0.206. eCollection 2020 Spring.

DOI:10.22114/ajem.v0i0.206
PMID:32322798
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7163268/
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.

摘要

引言

Chiari 畸形是一组涉及后脑和颈椎管的先天性异常。

病例报告

在此,我们描述了一名患者,该患者最初被诊断为 Chiari 1 型畸形,表现为急性复视和步态不稳。然而,由于共济失调的进展,进行了全面的神经学评估,最终确诊为 3 型脊髓小脑共济失调(马查多 - 约瑟夫病)。

结论

我们旨在强调仔细检查的重要性,以避免误诊,即使是罕见疾病。

相似文献

1
Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report.一名青年男性患3型脊髓小脑萎缩合并Chiari畸形:病例报告
Adv J Emerg Med. 2019 Aug 18;4(2):e30. doi: 10.22114/ajem.v0i0.206. eCollection 2020 Spring.
2
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Am J Ophthalmol Case Rep. 2022 Nov 12;28:101754. doi: 10.1016/j.ajoc.2022.101754. eCollection 2022 Dec.
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本文引用的文献

1
Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.综述文章:伴或不伴脊髓空洞症的Chiari I型畸形:患病率与遗传学
J Genet Couns. 2003 Aug;12(4):297-311. doi: 10.1023/A:1023948921381.
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Idiopathic late-onset cerebellar ataxia with cerebellar atrophy in a patient diagnosed with Chiari I malformation: a case report.一名被诊断为Chiari I畸形的患者出现特发性迟发性小脑共济失调并伴有小脑萎缩:病例报告
Neurol Sci. 2013 Dec;34(12):2235-7. doi: 10.1007/s10072-013-1469-7. Epub 2013 Jun 7.
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Arnold-Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest.
1型阿诺德-奇亚里畸形合并急性起病的脊髓前动脉血栓形成、四肢轻瘫和呼吸骤停。
BMJ Case Rep. 2011 Apr 15;2011:bcr0720103170. doi: 10.1136/bcr.07.2010.3170.
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Machado-Joseph Disease: from first descriptions to new perspectives.马查多-约瑟夫病:从最初的描述到新视角。
Orphanet J Rare Dis. 2011 Jun 2;6:35. doi: 10.1186/1750-1172-6-35.
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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.常染色体显性小脑共济失调:多聚谷氨酰胺扩展及其他。
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Hindbrain herniation: A review of embryological theories.后脑疝:胚胎学理论综述
Ital J Anat Embryol. 2008 Jan-Mar;113(1):37-46.
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Is Chiari type I malformation a reason for chronic daily headache.Chiari I型畸形是慢性每日头痛的一个原因吗?
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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.常染色体显性遗传性小脑共济失调:临床特征、遗传学及发病机制
Lancet Neurol. 2004 May;3(5):291-304. doi: 10.1016/S1474-4422(04)00737-9.