Satoyoshi syndrome: a rare multisystemic disorder requiring systemic and symptomatic treatment.
Satoyoshi syndrome is a rare multisystemic disorder with assumed autoimmune pathogenesis. Typical clinical features are progressive painful muscle spasms, alopecia, diarrhoea, and skeletal and endocrine abnormalities often resulting in early invalidism and death. Patients have been treated with immunoglobulins and glucocorticoids with varying outcome. We report on a 19-year-old German adolescent who has been successfully treated with a new combination of carbamazepine to reduce the severity and frequency of painful nocturnal muscle spasms, prednisolone, methotrexate and sex-steroids. Prednisolone treatment alone was not successful. After introduction of low-dose of methotrexate to the therapy the patient recovered from muscle spasms, alopecia and diarrhoea. Initiation of sex-steroid treatment resulted in pubertal development, regular menstrual cycles and improved quality of life.
Division of Paediatric Endocrinology, Department of Paediatrics, Christian-Albrechts-University, University Hospital Schleswig-Holstein, Campus Kiel, Schwanenweg 20, D-24105 Kiel, Germany. sabine.heger@medizin.uni-leipzig.de
Sabine
S
Heger
Rolf M
RM
Kuester
Ruth
R
Volk
Ulrich
U
Stephani
Wolfgang G
WG
Sippell
D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000188:drug therapy; D002220:Carbamazepine / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D004700:Endocrine System Diseases / Q000150:complications* / Q000188:drug therapy*; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D011239:Prednisolone / Q000627:therapeutic use; D013035:Spasm / Q000150:complications* / Q000188:drug therapy*; D013256:Steroids / Q000627:therapeutic use
D005938:Glucocorticoids; D007166:Immunosuppressive Agents; D013256:Steroids; D002220:Carbamazepine; D011239:Prednisolone