Tophaceous gout of the nose in a male FMR1 premutation carrier.

Si Jie TangShanthi GiriNima PahlavanSophia H HanEllery R SantosGlenda EspinalRamkumar Aishworiya Andrea SchneiderDavid HesslSusan M RiveraRandi J Hagerman

Published in: Clinical case reports (2022)

Premutation alleles with 55-200 CGG repeats in FMR1 can lead to fragile X-associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68-year-old male with FXTAS with multiple sites of involvement including a rare gouty tophus in the nasal region.

Keyphrases

uric acid
deep brain stimulation
parkinson disease
early onset
case report
metabolic syndrome
chronic rhinosinusitis