CEREBRO TENDINOUS XANTHOMATOSIS (CTX)

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder characterized by accumulation of cholesterol and cholestanol in various tissues, predominantly the central nervous system (CNS), tendons, lungs, liver, and kidneys. Juvenile cataract, childhood diarrhea, mental retardation, and cerebellar ataxia, along with tendon xanthomas, are the most prominent features of this disease. Early diagnosis is extremely important as patients benefit from therapy with chenodeoxycholic acid and further progression of the disease can be prevented .We present and discuss the clinical, radiological, 33 year old male patient, 1st child of non consanguineous marriage presented with progressive unsteadiness while walking and frequent falls from 10years of age ,slurring of speech,swelling over both ankle