Cerebrotendinous xanthomatosis – The spectrum of imaging findings

The Teaching Point: Cerebrotendinous xanthomatosis or CTX is a rare genetic disorder. It is potentially treatable with replacement therapy and hence early diagnosis before neurological deterioration is important. The imaging findings are T2W hyperintensities in the Dentate nucleus, substantia nigra, globus pallidus and the presence of tendon xanthomas which are classic and should not be missed.

Source: Cerebrotendinous xanthomatosis – The spectrum of imaging findings

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s