hrp0086p2-p539 | Fat Metabolism and Obesity P2 | ESPE2016
Gupta Deepak Chand
, Syed Mohd. Razi
, Gupta Abhinav Kumar
, Gupta Keshav Kumar
Background: Cerebrotendinous xanthomatosis (CTX) is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Usually, the diagnosis is delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.Objective and hypotheses: To diagnose and manage a case of cerebrotendinous xantho...