Teaching NeuroImage: Symmetric Deep Cerebellar White Matter T2 and Susceptibility-Weighted Imaging Hypointense Lesions in a Case of Cerebrotendinous Xanthomatosis

A 39-year-old man presented with worsening slurred speech, difficulty walking, and falls for 2 years. Examination found severe ataxia and enlargement of Achilles tendons. Brain CT demonstrated modest hyperdensity in cerebellar hypodense lesions. T2-weighted imaging revealed hypointensity in deep cerebellar white matter, more evident on susceptibility-weighted imaging. Magnetic resonance spectroscopy suggested lipid storage and mitochondrial dysfunction. The diagnosis of cerebrotendinous xanthomatosis (CTX) was confirmed by gene screening of CYP27A1 (Figure).

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