Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

Figure 1 Magnetic resonance imaging results showed prominent bilateral cerebellar lesions of dentate nuclei. A: T2-weighted images; B: FLAIR images; Sagittal T1-weight images and axial T2-weight image sequence showed atrophy of bilateral cerebellar; C: Sagittal T1-weighted images; D: Axial T2-weighted image.

Figure 2 Cerebrotendinous xanthomatosis index family pedigree. Black symbols denote family members affected with cerebrotendinous xanthomatosis.

Figure 3 Magnetic resonance imaging results showed xanthoma of the right Achilles tendon. A: Sagittal proton density; B: T1-weighted image; C: T1-fat-saturated-weighted image following contrast agent injection.

Figure 4 A biopsy of this mass showed mostly foam cells and a few multinucleated giant cells in the fibrous tissue. A: Gross-excisional biopsy specimen from right tendon xanthomas measured 56 mm × 16 mm × 21 mm; B: Histopathology of the tendon mass. Soft tissue microscopic analysis results showed foam cells and a few multinucleated giant cells in the fibrous tissue.

Figure 5 Two pathological variants of CYP27A1 identified in the patient with cerebrotendinous xanthomatosis. A: c.255+1G>T; B: c.1263+1G>T.