Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report
This case report has the objective to describe clinical presentation, imaging findings and management of a patient with a GQ1B related disorder, presenting with features involving the peripheral nervous system (autonomic dysfunction, acute flaccid paralysis with areflexia) and central nervous system...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-05-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325000950 |
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| author | Ana Luisa Faria Donadon, MD Matheus Alves da Silva, MD Amanda Miranda de Mendonça, MD Rafael Bragança Rodrigues Matias, MD Eduardo Mesquita de Souza, MD Alex Araújo Fernandes, MD Matheus Luís Braga Munareto, MD Andre Luiz Guimaraes de Queiroz, MD Karla Danielle Ferreira Lima, MD Danielly Viana Monteiro Santos, MD Victor Hugo Rocha Marussi, MD Alex Machado Baeta, PhD |
| author_facet | Ana Luisa Faria Donadon, MD Matheus Alves da Silva, MD Amanda Miranda de Mendonça, MD Rafael Bragança Rodrigues Matias, MD Eduardo Mesquita de Souza, MD Alex Araújo Fernandes, MD Matheus Luís Braga Munareto, MD Andre Luiz Guimaraes de Queiroz, MD Karla Danielle Ferreira Lima, MD Danielly Viana Monteiro Santos, MD Victor Hugo Rocha Marussi, MD Alex Machado Baeta, PhD |
| author_sort | Ana Luisa Faria Donadon, MD |
| collection | DOAJ |
| description | This case report has the objective to describe clinical presentation, imaging findings and management of a patient with a GQ1B related disorder, presenting with features involving the peripheral nervous system (autonomic dysfunction, acute flaccid paralysis with areflexia) and central nervous system (cerebellar findings, consciousness impairment, cranial nerve dysfunction) compatible with an associated rhombencephalitis. The case describes a previously healthy 30-year-old man with progressive balance problems that evolved to tetraparesis, diplopia, and consciousness impairment with the need of mechanical ventilation. The MRI revealed diffuse white matter changes, mainly involving the brainstem. He had a complete clinical improvement after 2 cycles of immunoglobulin and 7 sessions of plasmapheresis. This case highlights the importance of neuroimaging findings when evaluating a patient with the suspicion of rhombencephalitis to contribute for a better understanding of the MRI alterations in Bickerstaff encephalitis and the other disorders in the GQ1B spectrum. |
| format | Article |
| id | doaj-art-61d307a9103f48b2af5d202a2abf2cd3 |
| institution | DOAJ |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-61d307a9103f48b2af5d202a2abf2cd32025-08-20T03:06:00ZengElsevierRadiology Case Reports1930-04332025-05-012052365236710.1016/j.radcr.2025.01.095Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case reportAna Luisa Faria Donadon, MD0Matheus Alves da Silva, MD1Amanda Miranda de Mendonça, MD2Rafael Bragança Rodrigues Matias, MD3Eduardo Mesquita de Souza, MD4Alex Araújo Fernandes, MD5Matheus Luís Braga Munareto, MD6Andre Luiz Guimaraes de Queiroz, MD7Karla Danielle Ferreira Lima, MD8Danielly Viana Monteiro Santos, MD9Victor Hugo Rocha Marussi, MD10Alex Machado Baeta, PhD11Neurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 Brazil; Corresponding author.Neurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeuroradiology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeuroradiology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilNeurology Department, Beneficência Portuguesa de São Paulo, St. Maestro Cardim, 637 - Bela Vista, São Paulo Sao Paulo, 01323-001 BrazilThis case report has the objective to describe clinical presentation, imaging findings and management of a patient with a GQ1B related disorder, presenting with features involving the peripheral nervous system (autonomic dysfunction, acute flaccid paralysis with areflexia) and central nervous system (cerebellar findings, consciousness impairment, cranial nerve dysfunction) compatible with an associated rhombencephalitis. The case describes a previously healthy 30-year-old man with progressive balance problems that evolved to tetraparesis, diplopia, and consciousness impairment with the need of mechanical ventilation. The MRI revealed diffuse white matter changes, mainly involving the brainstem. He had a complete clinical improvement after 2 cycles of immunoglobulin and 7 sessions of plasmapheresis. This case highlights the importance of neuroimaging findings when evaluating a patient with the suspicion of rhombencephalitis to contribute for a better understanding of the MRI alterations in Bickerstaff encephalitis and the other disorders in the GQ1B spectrum.http://www.sciencedirect.com/science/article/pii/S1930043325000950GQ1B spectrum disorderBickerstaff encephalitisMagnetic resonance imagingCase report |
| spellingShingle | Ana Luisa Faria Donadon, MD Matheus Alves da Silva, MD Amanda Miranda de Mendonça, MD Rafael Bragança Rodrigues Matias, MD Eduardo Mesquita de Souza, MD Alex Araújo Fernandes, MD Matheus Luís Braga Munareto, MD Andre Luiz Guimaraes de Queiroz, MD Karla Danielle Ferreira Lima, MD Danielly Viana Monteiro Santos, MD Victor Hugo Rocha Marussi, MD Alex Machado Baeta, PhD Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report Radiology Case Reports GQ1B spectrum disorder Bickerstaff encephalitis Magnetic resonance imaging Case report |
| title | Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report |
| title_full | Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report |
| title_fullStr | Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report |
| title_full_unstemmed | Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report |
| title_short | Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report |
| title_sort | atypical diffuse white matter changes in a patient with anti gq1b spectrum disorder a case report |
| topic | GQ1B spectrum disorder Bickerstaff encephalitis Magnetic resonance imaging Case report |
| url | http://www.sciencedirect.com/science/article/pii/S1930043325000950 |
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