1.
Indian J Radiol Imaging
; 19(4): 314-7, 2009.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19881113
RESUMO
Cerebrotendinous xanthomatosis is a rare genetic disorder. We present and discuss the clinical, radiological, and histopathologic findings in a 36-year-old woman who had juvenile cataract, childhood diarrhea, mental retardation, cerebellar ataxia, and bilateral Achilles tendon xanthomas. She was thoroughly investigated radiologically and biopsy confirmed the diagnosis of xanthomas.