莫比斯综合征伴脊髓空洞1例。

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL
Einstein-Sao Paulo Pub Date : 2025-04-18 eCollection Date: 2025-01-01 DOI:10.31744/einstein_journal/2025RC0876
Fernanda Kimie Yamamoto, Fernanda Marques de Deus, Renata de Araújo Monteiro Yoshida, Erasmo Barbante Casella, Romy Schmidt Brock Zacharias
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引用次数: 0

摘要

背景:莫比乌斯综合征是一种由于脑神经VI和VII的瘫痪而导致面部模仿能力丧失的遗传性疾病。脊髓空洞症的特点是脊髓中央管扩张,通常无症状。这两种疾病都是通过影像学检查诊断的。我院产房收治一新生儿,体格检查无面部动作。一位专家证实,这种情况是莫比乌斯综合症。磁共振成像进一步研究表明脊髓空洞与莫比乌斯综合征有关。鉴于脊髓空洞症是一种无声的脊髓病,可能对患者未来的健康产生影响,建议在诊断莫比乌斯综合征时仔细分析。迄今为止,很少有类似的病例报告。需要进一步的研究来确定这两种情况之间的实际联系。由于脊髓空洞症的诊断通常是在检查其他疾病时做出的,就像在这项研究中一样,因此对大脑的神经学检查应该扩大到包括脊髓,以证实是否存在共存的疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Moebius Syndrome associated with syringomyelia: a case report.

Background: Moebius Syndrome is a genetic condition that results in inability for facial mimicry due to palsy of cranial nerves VI and VII. Syringomyelia is characterized by a dilation of the central canal in the spinal cord, and is generally asymptomatic. Both disorders are diagnosed using imaging tests. A newborn with no facial movements upon physical examination was admitted to the delivery room of our hospital. A specialist confirmed the condition to be Moebius Syndrome. Further investigation using magnetic resonance imaging indicated that syringomyelia was associated with Moebius Syndrome. Given that syringomyelia is a silent myelopathy with a possible impact on the future health of the patient, careful analysis is recommended when diagnosing Moebius Syndrome. Few similar cases have been reported to date. Further studies are warranted to determine the actual association between these two conditions. Since syringomyelia diagnoses are often made when testing for other conditions, as in this study, neurological examinations of the brain should be expanded to include the spinal cord, in order to verify the presence of coexisting disorders.

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来源期刊
Einstein-Sao Paulo
Einstein-Sao Paulo MEDICINE, GENERAL & INTERNAL-
CiteScore
2.00
自引率
0.00%
发文量
210
审稿时长
38 weeks
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