Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease
Journal Title: Oman Medical Journal - Year 2016, Vol 31, Issue 3
Abstract
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.
Authors and Affiliations
Patrick Scott, Zandre Bruwer, Khalsa Al-Kharusi, Douja Meftah, Fathiya Al-Murshedi
Keywords
Related Articles
- EP ID EP117829
- DOI 10.5001/omj.2016.43
- Views 96
- Downloads 0
Clinical Features and Antimicrobial Resistance of Bacterial Agents of Ventilator-Associated Tracheobronchitis in Hamedan, Iran
Objectives: Ventilator-associated tracheobronchitis (VAT) is a common cause of mortality and morbidity in patients admitted to intensive care units (ICUs). This study was conducted to evaluate the clinical course, etiolo...
Palliative Care: Time for Action
Cervical Aerocele: A Rare Delayed Complication of Tracheostomy
Acquired cervical aerocele in adults is a rare condition and its delay development after tracheostomy decannulation is reported rarely. Our patient presented eight years after tracheostomy decannulation with a compressib...
Association Between Seminal Plasma Copper and Magnesium Levels with Oxidative Stress in Iraqi Infertile Men
Objectives: To study the association between copper, magnesium and malondialdehyde levels in seminal plasma of oligozoospermic, azoospermic in relation to normozoospermic men. Methods: The present study was conducted...
It is Always Darkest Before Dawn
healthy 44-year-old woman presented to the Emergency Department at Sultan Qaboos University Hospital with a three-day-history of sore throat, difficulty swallowing, and neck stiffness. Her medical history was unremarkabl...