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.
- neurology (drugs and medicines)
- coeliac disease
- clinical neurophysiology
- neuro genetics
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Contributors All authors have contributed to the planning, conduct and reporting of the work described in the article. JB and D-BN: principle writers of the case report manuscript. CL: significant contribution to the genetic analysis involved in the case report. CL has also proofread the case report and provided feedback. KB was the supervisor consultant who has been involved in all aspects of the case report. She has proofread the report and provided essential feedback with regards to content and clarity of the case report.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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