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Symptomatic Charcot-Marie-Tooth? A pair of concordant monozygotic twins
G J Braathen1, J C Sand, M B Russell
1Faculty Division Akershus University Hospital, University of Oslo, Oslo, Norway. g.j.braathen@medisin.uio.no
Background:
A pair of monozygotic twin brothers were referred due to hereditary peripheral neuropathy resembling late onset Charcot-Marie-Tooth (CMT).
Aim Of The Study:
Diagnostic classification of the twin pair.
Method:
Clinical, neurological, genetical and neurophysiological examination, and molecular genetic testing.
Results:
The clinic and neurophysiology was compatible with CMT disease with late onset. Molecular genetic analysis excluded mutations in PMP22, connexin32, MPZ, LITAF and MFNZ genes, as well as duplication and deletion of PMP22.
Conclusions:
The twins were employed in PVC production and developed symptoms after 14 years of massive exposure. We think that the heavy exposure to various neurotoxic compounds caused symptoms that mimic late-onset CMT. However, the twins had distal dysesthesia which is unusual in inherited neuropathies. This illustrates the importance of an occupational history even in the molecular genetic era.
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