Indian Journal of Pediatrics 2010-Jun
Cerebrotendinous xanthomatosis.
Numai utilizatorii înregistrați pot traduce articole
Log In / Înregistrare
Linkul este salvat în clipboard
Cuvinte cheie
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.