Fernanda Kimie Yamamoto, Fernanda Marques de Deus, Renata de Araújo Monteiro Yoshida, Erasmo Barbante Casella, Romy Schmidt Brock Zacharias
{"title":"莫比斯综合征伴脊髓空洞1例。","authors":"Fernanda Kimie Yamamoto, Fernanda Marques de Deus, Renata de Araújo Monteiro Yoshida, Erasmo Barbante Casella, Romy Schmidt Brock Zacharias","doi":"10.31744/einstein_journal/2025RC0876","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"23 ","pages":"eRC0876"},"PeriodicalIF":1.1000,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061435/pdf/","citationCount":"0","resultStr":"{\"title\":\"Moebius Syndrome associated with syringomyelia: a case report.\",\"authors\":\"Fernanda Kimie Yamamoto, Fernanda Marques de Deus, Renata de Araújo Monteiro Yoshida, Erasmo Barbante Casella, Romy Schmidt Brock Zacharias\",\"doi\":\"10.31744/einstein_journal/2025RC0876\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p>\",\"PeriodicalId\":47359,\"journal\":{\"name\":\"Einstein-Sao Paulo\",\"volume\":\"23 \",\"pages\":\"eRC0876\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2025-04-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061435/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Einstein-Sao Paulo\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31744/einstein_journal/2025RC0876\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Einstein-Sao Paulo","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31744/einstein_journal/2025RC0876","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.