'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation.
نویسندگان
چکیده
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.
منابع مشابه
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis
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ورودعنوان ژورنال:
- BMJ case reports
دوره 2013 شماره
صفحات -
تاریخ انتشار 2013