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A Neuropsychological Profile for Cerebrotendinous Xanthomatosis: A Single-Case Study

Published online by Cambridge University Press:  03 January 2020

Andrew M. Bryant Open the ORCID record for Andrew M. Bryant [Opens in a new window]  and
Cady Block Open the ORCID record for Cady Block [Opens in a new window]
Andrew M. Bryant*
Affiliation:
Section of Neurobehavioral Health, Department of Psychiatry & Behavioral Health, The Ohio State University Wexner Medical Center, 3650 Olentangy River Road, Suite 310, Columbus, OH43214, USA Department of Psychology, Ohio University, 200 Porter Hall, Athens, OH45701, USA
Cady Block
Affiliation:
Section of Neurobehavioral Health, Department of Psychiatry & Behavioral Health, The Ohio State University Wexner Medical Center, 3650 Olentangy River Road, Suite 310, Columbus, OH43214, USA
*
Correspondence and reprint requests to: Andrew M. Bryant, Section of Neurobehavioral Health, Department of Psychiatry and Behavioral Health, The Ohio State University Wexner Medical Center, 3650 Olentangy River Road, Suite 310, Columbus, OH 43214, USA. E-mail: [email protected].
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Abstract

Objective:

Cerebrotendinous xanthomatosis (CTX) belongs to a heterogeneous group of neurological disorders known as autosomal recessive cerebellar ataxias. Low awareness of CTX can result in misdiagnoses in the differential diagnostic process and may limit one’s ability to offer suitable recommendations. While neurodegeneration is a recognized manifestation of CTX, there is scant literature to characterize the nature of cortical symptoms and even less detailing of its associated neurocognitive and neuropsychiatric manifestations.

Method:

Based on the lack of representation of CTX in neuropsychological literature, we sought to present a case seen in a 39-year-old patient within our own clinic.

Results:

Evaluation of the patient’s neurocognitive functioning revealed global impairment consistent with a CTX diagnosis and neuroimaging findings noting significant cerebellar involvement.

Conclusions:

Neuropsychologists are increasingly called upon to make treatment recommendations and provide information that may be helpful in differential diagnosis as part of multidisciplinary teams. Referrals from neurology are common, and it is important for neuropsychologists to be aware of diseases that affect the central nervous system; CTX is one such example. The goal of this case study is to build awareness of this condition and increase interest in a more systematic approach to research and clinical care of this population.

Keywords

Cerebrotendinous xanthomatosiscongenitalhereditaryand neonatal disease and abnormalitiesgenetic diseasedifferential diagnosisdementiacerebellar ataxia
Type
Case Report
Information
Journal of the International Neuropsychological Society , Volume 26 , Issue 4 , April 2020 , pp. 441 - 449
Copyright
Copyright © INS. Published by Cambridge University Press, 2020

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