Transthyretin familial amyloid polyneuropathy due to lle107Val mutation mimicking atypical chronic inflammatory demyelinating polyneuropathy: case report

Hereditary Transthyretin Amyloidosis Misdiagnosed as Demyelinating Neuropathy: A Report of Three Cases

“…A recent study showed 15% of demyelinating aTTR patients in French cohort (13 of 84 patients) and demonstrated misleading features of aTTR fulfilling electrodiagnostic criteria of CIDP are not uncommon in clinical practice [7]. In previous studies, the most notable features of NCS in aTTR fulfilling electrodiagnostic criteria of CIDP were pronged distal latency of the median nerve and the other is co-existence of severe motor axonal loss not only demyelinating features [7,8]. These features are also shown in all patients in this report (Table 2).…”