Rare metabolic disorder mimics ADHD in adult patient

A recent case report highlights the diagnostic challenges of cerebrotendinous xanthomatosis (CTX), a rare genetic disorder affecting lipid metabolism, which initially presented as attention-deficit/hyperactivity disorder (ADHD) in a 33-year-old patient.

The patient sought psychiatric evaluation due to increasing distractibility and inattention, suspecting adult ADHD. However, the absence of childhood ADHD history, along with neurological symptoms and tendon xanthomas, prompted further investigation. Advanced testing, including neuroimaging and genetic analysis, confirmed a diagnosis of CTX.

Treatment with chenodeoxycholic acid helped stabilize cognitive function, though motor symptoms showed limited improvement.

Reference
Kim J, Hong YJ, Lee SB, et al. Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice. Front Psychiatry. 2025;16:1528204. doi: 10.3389/fpsyt.2025.1528204. PMID: 39967585; PMCID: PMC11832511.