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Artigo Produção Nacional Revisado por pares

BIBTEX RIS

Satoyoshi syndrome in a caucasian girl improved with glucocorticoids—A clinical report

2003; Wiley; Volume: 118A; Issue: 1 Linguagem: Inglês

10.1002/ajmg.a.10037

1552-4833

Cláudia Rafaela Cecchin, Têmis Maria Félix, Richard Borba Magalhães, Tânia Weber Furlanetto,

Ophthalmology and Eye Disorders

Satoyoshi syndrome (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and skeletal abnormalities mimicking a skeletal dysplasia. In this report, we describe a Caucasian 12-year-old girl that presented with characteristic manifestations, including alopecia, muscle cramps, and short stature with onset at age 7. Prednisone 60 mg/m(2) every other day and amytriptiline 25 mg QD were administered. After 2 months, alopecia had significantly improved and muscle cramps had almost disappeared, so that glucocorticoid treatment was tapered. Follow-up, 9 months later, showed a normal looking and asymptomatic girl.