Publications by authors named "Rebecca Eilish Irvine"
BMC Neurol
September 2024
Article Synopsis
- Woodhouse-Sakati Syndrome (WSS) is a rare genetic disorder characterized by symptoms like hypogonadism and neurological issues, often starting in adolescence, with under 200 known cases.
- A unique case of WSS was presented with no notable MRI findings, differing from typical reports, and included symptoms like abnormal leg movements, clumsiness, dysarthria, and alopecia.
- The patient underwent successful genetic testing for WSS diagnosis and received treatment, including botulinum toxin injections and deep brain stimulation, resulting in significant improvements in mobility and overall quality of life.
