Health - Mystery Diagnosis: Cerebrotendinous Xanthomatosis

Ashleys illness began with chronic diarrhea as an infant, and branched out to such diverse symptoms as ADHD and cataracts. Nissa, an ER nurse, took sick with the flu and was diagnosed with Lymphoma before swelling in her hands gave her illness away.Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis,is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies.Cause and GeneticsCTX is associated with mutations in the CYP27A1 gene, located on chromosome 2q33-qter. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.TreatmentThe standard treatment is chenodeoxycholic acid (CDCA) replacement therapy. Serum cholesterol levels are also followed. If hypercholesterolemia is not controlled with CDCA, an HMG-CoA reductase inhibitor (statins such as simvastatin) can also be used.