Delayed diagnosis of cerebrotendinous xanthomatosis with progressive neurological involvement: a case report.
Wenting Zhou, Yanyun Wu, Sihui Chen et al.
✦ AI-curated · Sources linked
Case in brief
A 34-year-old man with genetically confirmed cerebrotendinous xanthomatosis presented with progressive gait instability, dysarthria, dysphagia, and cognitive impairment. His history included childhood-onset bilateral cataracts, chronic diarrhea, and poor academic performance; Achilles tendon masses arising in adulthood had been misdiagnosed as lipomas. Examination showed cognitive impairment, cerebellar ataxia, and pyramidal signs. Whole-exome sequencing found a homozygous pathogenic CYP27A1 variant. After chenodeoxycholic acid therapy, biochemical levels and several symptoms improved over 6 months, although cerebellar atrophy persisted on imaging.
What made this case unusual
The combination of childhood cataracts and chronic diarrhea with adult Achilles tendon masses—initially mistaken for lipomas—preceded progressive neurological involvement, illustrating how multisystem features can be overlooked.
Diagnostic / clinical pearl
In progressive neurological disease, consider CTX when cataracts, chronic diarrhea, and Achilles tendon masses coexist; genetic testing can confirm the diagnosis.
Why it matters
Symptoms and biochemical measures improved after chenodeoxycholic acid, but cerebellar atrophy persisted, underscoring the potential limits of reversibility once neurological damage is established.