Neurologic disorders which presents with a history of childhood diarrhea and bilateral juvenile cataracts
Describe the spectrum of manifestations of a neurologic disorder that may initially present with a history of childhood diarrhea and bilateral juvenile cataracts.
A history of childhood diarrhea and bilateral juvenile cataracts is found in cerebrotendinous xanthomatosis (CTX), a recessively inherited metabolic disorder in which affected individuals have an abnormality of bile acid metabolism.
CTX patients are homozygous or compound heterozygous for loss-of-function mutations in the CYP27A1 gene, which encodes the enzyme sterol 27-hydroxylase.
The patients are unable to synthesize normal amounts of chenodeoxycholic acid, leading to accumulation of its precursors in various tissues.
One characteristic of CTX is the presence of tendon xanthomas.
A variety of other signs and symptoms can be present including dementia, movement disorders, seizures, psychiatric symptoms, and spastic gait.