Cerebrotendinous xanthomatosis (CTX) is a condition characterized by abnormal fat accumulation, including cholesterol, within the body.
Key manifestations of CTX encompass persistent infancy-onset diarrhea, clouding of the eyes leading to vision impairment (cataracts), the formation of fatty deposits beneath the skin (xanthomas), and progressive neurological issues. The earliest sign in many affected individuals is chronic diarrhea starting during infancy. Cataracts typically develop in early childhood. Xanthomas most frequently emerge during adolescence and early adulthood, often on tendons like the Achilles, but can appear elsewhere on the body. Before reaching puberty, most CTX patients experience minimal or no neurological problems. However, in their twenties, neurological symptoms can arise, including seizures and loss of motor control, which tend to worsen over time. Additional neurological features may encompass intellectual disability and mental health challenges like depression or hallucinations. Some additional reported aspects of CTX comprise weakened and fragile bones, as well as potential heart problems. There is no cure for CTX, but early diagnosis and treatment with chenodeoxycholic acid may prevent and can improve some symptoms.
CTX is caused by pathogenic (disease-causing) variants in the CYP27A1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 76 chance to be a carrier.
Other names for this condition are cerebral cholesterinosis, cerebrotendinous cholesterinosis, cholestanol storage disease, cholestanolosis, and Van Bogaert-Scherer-Epstein disease.