Fascinating Image No. 1

Prepared by GG Kovacs

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease associated with mutations in the mitochondrial CYP27A1 gene. CTX is a multisystem disorder with granulomatous and xanthomatous changes mainly in the cerebellar hemispheres, globus pallidus and cerebellar peduncles. The image shows accumulation of perivascular macrophages, multinucleated giant cells, fibrotic vessels and cholesterol clefts in the cerebellar white matter. For more reading on this particular case, which was associated with 4R isoform tau pathology, see:
PMID: 23659550
DOI: 10.1111/nan.12058