Cerebrotendinous Xanthomatosis

Excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease associated with abnormally high cholestanol levels in the blood that accumulates in the nervous system and other organ systems. The cholestanol accumulates most notably in the brain, tendons, eyes, arteries and accounts for a broad spectrum of clinical manifestations. The presentation may range from infantile-onset diarrhea, juvenile-onset cataracts, tendon xanthomas, and progressive neurologic impairments.

The neurologic manifestations are ample and may include ataxia, dystonia, epilepsy, intellectual disability, dementia, peripheral neuropathy, and parkinsonism. With the marked variability in clinical presentation, age of onset, and disease severity, CTX is often underdiagnosed. There is a median 16-year delay between the initial symptoms and diagnosis. As the clinical outcome and disease progression correlates with the initiation of chenodeoxycholic acid (CDCA) therapy, it is paramount for physicians to recognize and treat the pathology as early as possible.