A 14-year-old boy with Satoyoshi syndrome is reported. Less than 50 patients with Satoyoshi syndrome have been reported in the world literature. This patient had alopecia, muscle spasms, and skeletal abnormalities, which are three of the most common clinical features of Satoyoshi syndrome. Despite extensive laboratory evaluation, an alternate explanation was not documented for the cluster of clinical findings in this patient. Immune dysregulation is believed to be an underlying mechanism for the development of Satoyoshi syndrome. In contrast to some reports, this patient failed to respond to intravenous immunoglobulin therapy. However, he responded dramatically to steroids.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health