CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report

Figure 1 These two pictures (A, B) showed arched feet and egg-sized, hard, painless lumps in both achilles tendons.

Figure 2 Magnetic resonance imaging. A, B: Magnetic resonance imaging (MRI) of the brain showed T2-weighted and FLAIR imaging hyperintensity in the bilateral cerebellar dentate nuclei; C, D: MRI of the right ankle showed fusiform swelling and abnormal signals in the achilles tendons.

Figure 3 C. 380G>A mutation in CYP27A1 gene of patient and his families. A: Patient; B: Mother; C: Sister.

Figure 4 c. 1563dupA mutation in CYP27A1 gene of patient and his families. A: Patient; B: Mother; C: Sister.