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Satoyoshi syndrome in a caucasian girl improved with glucocorticoids—A clinical report
Author(s) -
Cecchin Cláudia Rafaela,
Félix Têmis Maria,
Magalhães Richard B.,
Furlanetto Tânia Weber
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10037
Subject(s) - medicine , girl , asymptomatic , prednisone , short stature , muscle cramp , amenorrhea , glucocorticoid , malabsorption , pediatrics , endocrinology , pregnancy , psychology , developmental psychology , biology , genetics
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. © 2003 Wiley‐Liss, Inc.