Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis.

Jordan Burgess, Diba Behzad-Noori, Cheryl Longman, Kathryn Brennan

BMJ case reports 2020 Dec 22

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We present the case of a 29-year-old south Asian man born of consanguineous marriage, presenting with ataxia, peripheral neuropathy and cognitive impairment. An initial diagnosis of coeliac disease was thought to explain the pertinent clinical features; however, further investigation led to an additional diagnosis of the rare yet treatable autosomal recessive condition, cerebrotendinous xanthomatosis. With both conditions employing highly diverse and overlapping clinical phenotypes, this contributed to a delay in diagnosis. Our report highlights the importance of paying close attention to both the clinical phenotype and family history. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Citation

Jordan Burgess, Diba Behzad-Noori, Cheryl Longman, Kathryn Brennan. Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis. BMJ case reports. 2020 Dec 22;13(12)