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