Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

Figure 2 Clinical and imaging data of the patient. A: The dark skin and poor mental state of the patient; B: Arrowheads show the nodules on the bilateral tibial tubercles; C: Arrowheads show the enlarged Achilles tendons; D: B-ultrasound of the urinary system, showing the hypoechoic area (arrowhead) in the bladder which can move with body position; E: X-ray of the lower limbs showing swelling of the soft tissue below the bilateral tibial tuberosities (arrowheads); F: Sagittal T1-weighted magnetic resonance (MR) image showing fusiform swelling of the right Achilles tendon and upper medial malleolus flexor tendon, abnormal thickening of the plantar fat, and a small amount of exudation around the fascia in front of the Achilles tendon; G: Axial T2-weighted MR image suggesting mild ventricular enlargement and cerebral atrophy; H: Axial fluid-attenuated inversion recovery MR image showing an abnormal hyperintense signal around the ventricle posterior horn bilaterally (arrowheads).