title: Satoyoshi syndrome in a Caucasian girl improved with glucocorticoids--a clinical report.
abstract: 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.
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Cláudia Rafaela
authors.initials: CR
authors.lastname: Cecchin
authors.forename: Têmis Maria
authors.initials: TM
authors.lastname: Félix
authors.forename: Richard B
authors.initials: RB
authors.lastname: Magalhães
authors.forename: Tânia Weber
authors.initials: TW
authors.lastname: Furlanetto
mesh_terms: D000015:Abnormalities, Multiple / Q000188:drug therapy* / Q000235:genetics*; D002648:Child; D005260:Female; D005938:Glucocorticoids / Q000494:pharmacology*; D006801:Humans; D011241:Prednisone / Q000494:pharmacology*
chemical_list: D005938:Glucocorticoids; D011241:Prednisone