Cerebrotendinous Xanthomatosis (CTX) is a rare lipid storage disorder that may have a number of clinical presentations.
Family members are affected in an autosomal recessive pattern of inheritance.
Clinical presentations:
(1) chronic diarrhea starting in infancy, may be intractable
(2) bilateral cataracts during childhood (juvenile cataracts)
(3) tendon xanthomas during adolescence or as a young adult, often on the Achilles tendon
(4) progressive neurologic dysfunction at an early age (psychomotor retardation, dementia, psychiatric disorders, cerebellar signs, spasticity or other pyramidal signs, seizures, peripheral neuropathy)
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