Figure 1From: 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis Achilles tendon xanthomas (A) and hyperintensive signals on both sides of internal capsule, pons and dentate nucleus at MRI (B) as typical CTX findings. The lesions of spindle-shaped lipid crystal clefts in H-E staining (C) and rod-like cholesterol deposit in the electron microscope (D) indicated the diagnosis of CTX.Back to article page