الملخص الإنجليزي
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.
