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.