Case Report: Cerebrotendinous xanthomatosis.
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.
Karandikar
Amit A
AA
Department of Radiology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India.
Pushparajan
S
S
Unni
Madhavan N
MN
Srinivas
R
R