دورية أكاديمية
Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease
| العنوان: | Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease |
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| المؤلفون: | Patrick Scott, Zandre Bruwer, Khalsa Al-Kharusi, Douja Meftah, Fathiya Al-Murshedi |
| المصدر: | Oman Medical Journal, Vol 31, Iss 3, Pp 227-230 (2016) |
| بيانات النشر: | Oman Medical Specialty Board, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | Optic Neuritis, Schwannoma, Charcot-Marie-Tooth Disease, Type 4B1, Mutation, MTMR2 Gene, Medicine |
| الوصف: | Charcot-Marie-Tooth neuropathy type 4B1 (CMT4B1) disease is a rare subtype of CMT4 with reported association of facial weakness, vocal cord paresis, chest deformities, and claw hands. We report the unusual occurrence of optic neuritis and cervical cord schwannoma in a male individual with confirmed CMT4B1 disease. Sequencing of the MTMR2 gene revealed a novel nonsense homozygous mutation c.1768C>T (p.Gln590*). The mutation was identified in affected relatives of the proband and a second, apparently unrelated, family. The rare association of optic neuritis or schwannoma with genetically confirmed CMT1A has been individually observed, but never with recessive CMT. To the best of our knowledge, the occurrence of optic neuritis and cervical cord schwannoma in the same patient has never been reported with any form of CMT including CMT4B1. In similar cases, we recommend immediate medical attention to rule out the possibility of schwannomas in patients with all demyelinating CMT subtypes in case of the development of focal neurological signs or acute worsening of clinical status. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1999-768X 2070-5204 |
| Relation: | http://www.omjournal.org/fultext_PDF.aspx?DetailsID=766&pdf=images/766_M_Deatials_Pdf_.pdf&type=pdf; https://doaj.org/toc/1999-768X; https://doaj.org/toc/2070-5204 |
| DOI: | 10.5001/omj.2016.43 |
| URL الوصول: | https://doaj.org/article/447cd2bb9eac469bb1ef7adccb77835f |
| رقم الأكسشن: | edsdoj.447cd2bb9eac469bb1ef7adccb77835f |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 1999768X 20705204 |
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| DOI: | 10.5001/omj.2016.43 |