A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant

Abstract

We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p.(Phe84Ser). Only four cases with this variant have been reported before.

Keywords

• amyloid polyneuropathy
• familial amyloidosis peripheral disease
• transthyretin
• neuroelectrophysiology
• p.(phe64ser)
• p.(phe84ser)