Researcher at Neurology Department Reports Research in Cerebrotendinous Xanthomatosis (Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report).

A recent study conducted by researchers at the Neurology Department has shed light on cerebrotendinous xanthomatosis (CTX), an autosomal recessive lipid metabolism disorder. The study focused on a 27-year-old woman who experienced head and body tremors starting at the age of 12. Initially misdiagnosed, the patient was eventually diagnosed with CTX and treated with chenodeoxycholic acid and clonazepam, resulting in significant improvement. This case report highlights the importance of accurate diagnosis and appropriate treatment for CTX, potentially preventing misdiagnosis and mistreatment in clinical practice. [Extracted from the article]