Thelansis

  Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder characterized by a spectrum of clinical manifestations starting from early infancy to adulthood. Initial symptoms often include chronic diarrhea or neonatal cholestasis. Childhood-onset cataracts are common, typically appearing within the first decade of life in about 75% of affected individuals. Tendon xanthomas, predominantly in the second or third decade, manifest as deposits on various tendons such as the Achilles, extensor tendons of the elbow and hand, patellar tendon, and neck tendons. Xanthomas have also been reported in other organs, including the lungs, bones, and central nervous system. Neurological symptoms progress with age, starting with cognitive impairment in some cases from infancy, while others maintain normal intellectual function until puberty. Dementia becomes prevalent by the third decade in more than half of patients, often accompanied by psychiatric disturbances such as behavioral changes, ...