Teaching NeuroImage: Cerebrotendinous xanthomatosis
Citation Manager Formats
Make Comment
See Comments

A 57-year-old man with cerebrotendinous xanthomatosis (CTX) was admitted to the hospital after a fall. He had been diagnosed with CTX in his 30s and had had numerous complex-partial seizures, which occur in 50% of adult patients.1 Seizures were characterized by staring spells and speech deficits, occasionally generalizing to tonic-clonic leg movements. He had marked enlargement of the tongue and Achilles tendons (figure, A–D). Neurologic examination was notable for dementia, spasticity, and ataxia. Brain MRI revealed lesions in the temporal lobes, globus pallidus, and dentate nucleus of the cerebellum (figure, E, F), thought to be from lipid accumulation and reactive astrocytosis.2 Additionally, hemosiderin deposits with calcification were present in the cerebellar hemispheres (figure, G, H). Biochemical testing revealed a high plasma cholestanol level (3.04 mg/dL, >10 times normal).The patient had been treated with chenodeoxycholic acid, but did not receive it for over a year because of short supply worldwide. Lack of recent therapy was associated with an increased frequency of seizures, prominent tongue protrusion, and further enlargement of the Achilles tendons.
Figure Patient with cerebrotendinous xanthomatosis
Physical examination demonstrated enlargement of the tongue (A) and Achilles tendons (B). Axial (C) and sagittal (D) T1-weighted MRI scans confirmed hypertrophy of the Achilles tendons. Brain MRI FLAIR sequences showed cortical and subcortical hyperintensities in the temporal lobes (arrows, E) and globus pallidus (arrowheads, E). T2-weighted MR images revealed cerebellar hyperintensities within the dentate nucleus (F). Hypointensities were seen on T1-weighted and susceptibility MRI scans within the cerebellum at the level of the midbrain (G, H).
Footnotes
-
Disclosure: The authors report no disclosures.
REFERENCES
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Cutaneous α-Synuclein Signatures in Patients With Multiple System Atrophy and Parkinson Disease
Dr. Rizwan S. Akhtar and Dr. Sarah Brooker
► Watch
Related Articles
- No related articles found.
Topics Discussed
Alert Me
Recommended articles
-
Resident and Fellow Section
Clinical Reasoning: A case of treatable spastic paraparesisJonathan H. McKinnon, E. Peter Bosch et al.Neurology, August 06, 2012 -
Clinical/Scientific Notes
THE FIRST CEREBROTENDINOUS XANTHOMATOSIS FAMILY FROM ARGENTINA: A NEW MUTATION IN CYP27A1 GENEM. Szlago, G. N. Gallus, A. Schenone et al.Neurology, January 28, 2008 -
Article
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment startBianca M.L. Stelten, Hidde H. Huidekoper, Bart P.C. van de Warrenburg et al.Neurology, December 07, 2018 -
Resident & Fellow Section
Teaching NeuroImages: Spinal xanthomatosisA misdiagnosed, treatable cause of progressive myelopathyCristina Valencia-Sanchez, Dean M. Wingerchuk, Radhika Dhamija et al.Neurology, July 07, 2020