PMC6026278_01
Cerebrotendinous xanthomatosis revealed by ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. A 30-year-old female with genetically confirmed cerebrotendinous xanthomatosis showing mild limb and gait ataxia (Segment 1A and 1B) and palatal tremor at low frequency (Segment 1C).
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No tendon xanthomas were present (Figure 1).
Imaging of both feet. Atrophy of the distal foot muscles and absence of xanthomas in the Achilles tendons. There were also no xanthomas in other body parts.
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T2-weighted images, with a central hypointensity suggestive of calcification (Figure 2A, left and central) and bilateral hyperintensity of the basal ganglia (Figure 2A, right). The olivary nuclei showed a serpiginous abnormal signal, although there was no classic olivary hypertrophy (Figure 2B, left). A brain computed tomography scan showed subtle calcifications in the white matter surrounding the dentate nucleus (Figure 2B, right).