Cerebrotendinous xanthomatosis.

ABSTRACT

We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter.