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- Publisher
- Wiley
- Copyright
- Copyright © 2003 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.a.10037
- pmid
- 12605441
- Publisher site
- See Article on Publisher Site
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/m2 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.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 2003
Keywords: ; ; ;