Cerebrotendinous xanthomatosis (CTX)

CTX causes a distinctive array of manifestations, each with variable onset and severity^1,2

Potential signs and symptoms of CTX include neonatal cholestasis, chronic diarrhea that begins in infancy or early childhood, pediatric cataracts, tendon xanthomas, and progressive neurologic deterioration.^1,2

The variability and multisystem effects of CTX make it challenging to diagnose¹

These signs and symptoms are variable in onset and severity and not every patient experiences all of the clinical manifestations.^1,2 Furthermore, because the clinical manifestations affect different organ systems, they are likely to present to different specialists, leading to delayed diagnosis and underdiagnosis.¹ Current mean age at diagnosis is 35.5 ± 11.8 years.¹