'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation

BMJ Case Rep. 2013 Feb 14:2013:bcr2012006641. doi: 10.1136/bcr-2012-006641.

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.

Publication types

  • Case Reports

MeSH terms

  • Achilles Tendon / pathology*
  • Adult
  • Biopsy
  • Cognition
  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Neuroimaging / methods*
  • Pons / pathology*
  • Xanthomatosis, Cerebrotendinous / diagnosis*
  • Xanthomatosis, Cerebrotendinous / physiopathology