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.
| Original language | English |
|---|---|
| Pages (from-to) | 227-230 |
| Number of pages | 4 |
| Journal | Oman Medical Journal |
| Volume | 31 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - May 1 2016 |
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Keywords
- Charcot-Marie-Tooth Disease
- MTMR2 gene
- Mutation
- Optic neuritis
- Schwannoma
- Type 4B1
ASJC Scopus subject areas
- Medicine(all)
Cite this
Occurrence of optic neuritis and cervical cord Schwannoma with Charcot-Marie-tooth type 4B1 disease. / Scott, Patrick; Bruwer, Zandre; Al-Kharusi, Khalsa; Meftah, Douja; Al-Murshedi, Fathiya.
In: Oman Medical Journal, Vol. 31, No. 3, 01.05.2016, p. 227-230.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Occurrence of optic neuritis and cervical cord Schwannoma with Charcot-Marie-tooth type 4B1 disease
AU - Scott, Patrick
AU - Bruwer, Zandre
AU - Al-Kharusi, Khalsa
AU - Meftah, Douja
AU - Al-Murshedi, Fathiya
PY - 2016/5/1
Y1 - 2016/5/1
N2 - 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.
AB - 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.
KW - Charcot-Marie-Tooth Disease
KW - MTMR2 gene
KW - Mutation
KW - Optic neuritis
KW - Schwannoma
KW - Type 4B1
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UR - http://www.scopus.com/inward/citedby.url?scp=84964925950&partnerID=8YFLogxK
U2 - 10.5001/omj.2016.43
DO - 10.5001/omj.2016.43
M3 - Article
VL - 31
SP - 227
EP - 230
JO - Oman Medical Journal
JF - Oman Medical Journal
SN - 1999-768X
IS - 3
ER -