Neurologic disorders which presents with a history of childhood diarrhea and bilateral juvenile cataracts

Sharing is caring!

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.

Sharing is caring!

15585

Sign up to receive the trending updates and tons of Health Tips

Join SeekhealthZ and never miss the latest health information

15856
Scroll to Top