Satoyoshi Syndrome: A Rare Multisystemic Disorder Requiring Systemic and Symptomatic Treatment

Satoyoshi syndrome, a rare disorder thought to be autoimmune in nature, is characterized by progressive muscle spasms, alopecia, diarrhea, and skeletal and endocrine issues, often leading to disability and early death. The document reports on a 19-year-old German patient who experienced significant improvement under a treatment regimen that included carbamazepine for muscle spasms, prednisolone, methotrexate, and sex steroids. While prednisolone alone was ineffective, the addition of low-dose methotrexate alleviated the muscle spasms, alopecia, and diarrhea. Furthermore, the introduction of sex-steroid treatment facilitated pubertal development, regular menstrual cycles, and enhanced the patient's quality of life.