Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. (December 2016)

• Record Type: Journal Article
• Authors: Razi, Syed; Gupta, Abhinav; Gupta, Deepak Chand; Gutch, Manish; Gupta, Keshav; Usman, Syeda
• Is Part Of: Journal of medical case reports. Volume 10:Number 1(2016)
• Page Start: 1
• Page End: 5
• Publication Date: 2016-12
• Subjects: Cerebrotendinous xanthomatosis -- CYP27A1 -- Xanthoma -- Chenodeoxycholic acid -- Cholestanol; Medicine -- Research -- Periodicals; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1186/s13256-016-0882-y
• Languages: English
• ISSNs: 1752-1947

Abstract

Abstract Background Cerebrotendinous xanthomatosis 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. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. Case presentation We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. Conclusions The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.