Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852075 | PMC |
| http://dx.doi.org/10.5001/omj.2016.43 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Background: Growing evidence suggests a close association between circulating micronutrient levels and neuroimmune diseases. Nevertheless, the causal relationship between them remains unclear. Furthermore, due to confounding factors, many micronutrients implicated in these diseases remain unidentified.
View Article and Find Full Text PDFRole for long term treatment in NMOSD induced by the immune checkpoint inhibitor cemiplimab.
Clin Neurol Neurosurg
October 2025
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
We present the case of a 54-year-old patient treated with cemiplimab, an immune checkpoint inhibitor (ICI), for multiple basal cell carcinomas in the context of Gorlin Goltz syndrome. Gorlin Goltz syndrome is an autosomal dominant multisystem disorder characterized, among other features, by multiple early-onset basal cell carcinomas (BCCs). After receiving Cemiplimab, she developed aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD).
View Article and Find Full Text PDFHeadache in optic neuritis: A retrospective case-control study revealing clinical and radiological associations of an underrecognized symptom.
Mult Scler Relat Disord
September 2025
Neurologist-Neuroimmunologist. Associate Professor of Neurology, Neuroscience Department, Division of Neurology, Pontificia Universidad Javeriana, Hospital Universitario San Ignacio, Bogotá, Colombia. Electronic address:
Background: Headache is a common but underrecognized symptom in optic neuritis (ON), with potential implications for diagnosis and management.
Objective: To assess the clinical and radiological factors associated with headache in patients with acute ON.
Methods: We conducted a retrospective case-control study in a tertiary hospital in Bogotá, Colombia (2022-2024).
Atypical presentation of MOGAD-associated optic neuritis with premacular haemorrhage.
BMJ Case Rep
September 2025
Neurology, Father Muller Medical College, Mangalore, Karnataka, India.
A man in his 30s presented with sudden vision loss in the right eye and diminished vision in the left eye accompanied by headache. Clinical findings included bilateral disc oedema, reduced visual acuity in both eyes (right eye>left eye), dense premacular haemorrhage in the right eye and impaired colour vision. Blood tests were positive for serum myelin oligodendrocyte glycoprotein (MOG) antibodies, confirming MOG-associated optic neuritis (ON).
View Article and Find Full Text PDFHydrocephalus as an Initial Presentation of Myelin Oligodendrocyte Glycoprotein (MOG) Antibody-Associated Disease: A Case Report and Review of Tumor-Mimicking Demyelination.
Cureus
August 2025
Department of Neurology, Tokyo Women's Medical University, Tokyo, JPN.
Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is a demyelinating disease of the central nervous system (CNS) that manifests as optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, and cortical encephalitis. Some patients with MOGAD present with tumor-like brain lesions. However, hydrocephalus as an initial presentation is rare.
View Article and Find Full Text PDF