Tophaceous gout of the nose in a male <i>FMR1</i> premutation carrier.

Tang, Si Jie; Giri, Shanthi; Pahlavan, Nima; Han, Sophia H; Santos, Ellery R; Espinal, Glenda; Aishworiya, Ramkumar; Schneider, Andrea; Hessl, David; Rivera, Susan M; Hagerman, Randi J

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

Tang, Si Jie; Giri, Shanthi; Pahlavan, Nima; Han, Sophia H; Santos, Ellery R; Espinal, Glenda; Aishworiya, Ramkumar; Schneider, Andrea; Hessl, David; Rivera, Susan M; Hagerman, Randi J.

Afiliação

Tang SJ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.
Giri S; Kaiser Permanente Sacramento California USA.
Pahlavan N; Kaiser Permanente North Valley Roseville California USA.
Han SH; Mira Loma High School Sacramento California USA.
Santos ER; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.
Espinal G; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.
Aishworiya R; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.
Schneider A; Khoo Teck Puat-National University Children's Medical Institute National University Health System Singapore Singapore.
Hessl D; Department of Pediatrics, Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore.
Rivera SM; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.
Hagerman RJ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California Davis Davis California USA.

Clin Case Rep ; 10(11): e6586, 2022 Nov.

Article em En | MEDLINE | ID: mdl-36447664

ABSTRACT

ABSTRACT

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.

Palavras-chave

FMR1; FXTAS; gout; premutation; tophi

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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