What is Cerebrotendinous Xanthomatosis?

It is a rare autosomal recessive genetic disorder of CYP₂₇A₁ gene, resulting in defect or deficiency of a mitochondrial enzyme, 27-hydroxylase, which leads to disruption of bile acid metabolism and increased cholesterol levels. Accumulation of cholesterol or lipids in brain, spinal cord, arteries, glands, lens, and tendons cause multiple clinical features.

How is cerebrotendinous xanthomatosis diagnosed?

It is diagnosed with help of blood rests for cholesterol and bile acids, radiological findings, and clinical features.

 

What are the clinical features of cerebrotendinous xanthomatosis?

It can cause systemic problems such as:

. Childhood intractable diarrhea

. Juvenile onset cataract

. Hypothyroidism

. Xanthomas, benign fatty swellings

. Premature atherosclerosis

. Coronary artery disease

. Atrial septal hypertrophy

. Osteopenia

. Osteoporosis

. Fractures

. Jaundice

 

It can cause neurological problems such as:

. Ataxia

. Epilepsy

. Dystonia

. Parkinsonism

. Polyneuropathy

. Dementia

. Psychotic symptoms

. Depression

. Myelopathy

 

What are imaging findings of brain in cerebrotendinous xanthomatosis?

. Diffuse cortical and cerebellar atrophy

. Bilateral focal cerebellar lesions

 

Is there any treatment for cerebrotendinous xanthomatosis?

1. Chenodeoxycholic acid: Targeting the cholesterol metabolism, chenodeoxycholic acid can correct defect of bile acid metabolism and normalize lipid concentration.
2. HMG-CoA reductase inhibitor may also help.

 

Where can I find more information about cerebrotendinous xanthomatosis?

American Academy of Neurology

American Academy of Pediatric Neurology Section

United Leukodystrophy Foundation

National Organization for Rare Disorders

Genetic and Rare Diseases Information Center