'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation. (14th February 2013)

• Record Type: Journal Article
• Authors: Jain, Rajendra Singh; Sannegowda, Raghavendra Bakki; Agrawal, Amit; Hemrajani, Deepika; Jain, Rahul; Mathur, Tarun
• Is Part Of: BMJ case reports. Volume 2013
• Publication Date: 2013-02-14
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2012-006641
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : We report a 25-year-old young man presenting with cognitive decline, pancerebellar features, spastic quadriparesis, bilateral cataract (operated) and tendo-Achilles swelling (xanthoma). The CT of the head showed bilateral cerebellar hypodensities. There were bilateral cerebellar hypointensities involving dentate nuclei on T1-weighted images with corresponding hyperintensities on T2-weighted MRI. Additionally, an interesting MRI finding—'hot cross bun' appearance was seen in pons which has not been reported in the literature so far. Biopsy from tendo-Achilles confirmed xanthoma. He was treated with chenodeoxycholic acid following which he showed improvement in cognition and weakness.