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. 2023 Aug 15;101(7):e780-e781.
doi: 10.1212/WNL.0000000000207347. Epub 2023 Apr 25.

Teaching NeuroImage: Subcutaneous Swellings and Cognitive Impairment in a Young Male Patient

Affiliations

Teaching NeuroImage: Subcutaneous Swellings and Cognitive Impairment in a Young Male Patient

Rasmi Ranjan Sahoo et al. Neurology. .
No abstract available

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Conflict of interest statement

The authors report no relevant disclosures. Go to Neurology.org/N for full disclosures.

Figures

Figure 1
Figure 1. Clinical Manifestations and Imaging Characteristics of Cerebrotendinous Xanthomatosis
Tendon xanthomas (A), bilateral lenticular opacities (B and C), and histopathology of subcutaneous swelling showing cholesterol clefts (arrow) and touton giant cell (arrowhead) (D) (H&E, ×400).
Figure 2
Figure 2. Clinical Manifestations and Imaging Characteristics of Cerebrotendinous Xanthomatosis
Axial T2-weighted (A) and susceptibility-weighted (B) magnetic resonance imaging of the brain revealed bilateral cerebellar dentate nuclei hyperintensities (horizontal arrows) and punctate foci of hypointensities (oblique arrows), respectively.

References

    1. Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014;9(1):179. - PMC - PubMed