ArticleRadiology case reports2025
Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings.
Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, leading to defective bile acid synthesis and systemic accumulation of cholestanol with characteristic findings on imaging. We present a case of a patient with juvenile-onset bilateral cataract, progressive cognitive decline, spastic paraparesis, behavioral abnormalities and seizures. MRI brain revealed symmetrical T2 hyperintensity and T1 hypointensity in the bilateral dentate nuclei, fronto-parietal atrophy, and nonspecific periventricular white matter changes. Ultrasound and MRI of the Achilles tendon demonstrated xanthomas bilaterally. Based on clinical and imaging features, a diagnosis of CTX was considered and later confirmed by genetic testing. This case highlights the role of neuroimaging in the early diagnosis of CTX, enabling timely initiation of chenodeoxycholic acid (CDCA) therapy, which may arrest or reverse disease progression.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.