Orthopaedic manifestations in childhood-onset Satoyoshi syndrome: A case report

Satoyoshi syndrome is a rare multisystem disorder characterized by progressive painful muscle spasms, alopecia, and diarrhea. It causes short stature and severe joint deformities when it occurs in childhood. A 16-year-old boy complained of painful muscle spasms of the limbs and trunk since the age of nine years. He visited us at the age of 13 years because of rickets-like radiological findings and lower limb deformity. He was diagnosed with Satoyoshi syndrome based on the characteristic clinical and radiological findings, including deteriorated muscle spasms, impaired growth, frequent diarrhea, and joint deformities with metaphyseal sclerosis and growth plate widening. Corrective surgeries were performed with guided growth of genu varum and ankle valgus deformities. The correction rate was extremely slow and limited improvement was observed at skeletal maturity. Since Satoyoshi syndrome significantly disturbs longitudinal bone growth during childhood, guided growth surgery should be performed as early as possible.