Po120 CMT1A and co-existing primary progressive multiple sclerosis. (1st December 2017)

• Record Type: Journal Article
• Authors: Cooper, Rebecca; Barritt, Andrew; Hughes, Paul; Fisniku, Leonora
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 88(2017)Supplement 1
• Page Start: A43
• Page End: A43
• Publication Date: 2017-12-01
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2017-ABN.150
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : A 56-year-old lady presented with a 3 year history of slowly worsening mobility and balance, spasms, and sphincter dysfunction. At 46 she received a genetically confirmed diagnosis of Charcot-Marie-Tooth (CMT) Type-1A with a positive family history, having presented with minimal distal sensory and motor involvement and electrophysiologically confirmed carpel tunnel syndrome successfully treated neurosurgically. Examination now revealed optic disc pallor, left upper and lower limb spasticity, pyramidal weakness and gait ataxia. Whole neuroaxis contrast Magnetic Resonance Imaging showed scattered periventricular, temporal and right cerebellar lesions suggestive of demyelination without enhancement. CSF showed intrathecal oligoclonal band synthesis and raised IgG index. The supplementary diagnosis of primary progressive multiple sclerosis (PP-MS) was made. A relapsing-remitting MS or PP-MS phenotype is only very rarely described in patients with co-existent genetically confirmed CMT, including Type 1, Type 2 and X-linked cases. Although an inflammatory component is felt to be superimposed upon the dysmyelinative neuropathy in some patients, involvement of the central nervous system reported in cases of CMT more commonly comprises asymptomatic white matter lesions. Hypotheses exist proposing a shared pathological basis to the co-existence of MS and CMT through dysregulated immune tolerance to myelin however such co-occurrence could plausibly be explained by chance alone.