Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Psychiatry. Nov 19, 2023; 13(11): 967-972
Published online Nov 19, 2023. doi: 10.5498/wjp.v13.i11.967
Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report
Chen-Xi Ling, Shu-Zhan Gao, Ri-Dong Li, Shu-Qing Gao, Yue Zhou, Xi-Jia Xu
Chen-Xi Ling, Shu-Zhan Gao, Xi-Jia Xu, Department of Psychiatry, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China
Shu-Zhan Gao, Xi-Jia Xu, Department of Psychiatry, Nanjing Brain Hospital, Medical School, Nanjing University, Nanjing 210029, Jiangsu Province, China
Ri-Dong Li, Department of Radiology, Zhongda Hospital, School of Medicine, Southeast University, Nanjing 210009, Jiangsu Province, China
Shu-Qing Gao, Department of Psychiatry, Nanjing Qinglongshan Mental Hospital, Nanjing 211123, Jiangsu Province, China
Yue Zhou, Department of Psychosomatics and Psychiatry, Zhongda Hospital, School of Medicine, Southeast University, Nanjing 210009, Jiangsu Province, China
Author contributions: Ling CX and Xu XJ conceived the concept of this article; Gao SZ, Li RD, Gao SQ, Zhou Y provided the clinical insights in this case; Ling CX wrote the first draft; Xu XJ contributed to conducting the critical revision of the article and served as the corresponding author; All authors approved this manuscript.
Supported by National Natural Science Foundation of China, No. 82172061; the Key Research and Development Plan in Jiangsu, No. BE2022677; and the 16th Batch of Six Talent Peak Projects in Jiangsu, No. WSN-166.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xi-Jia Xu, MD, Chief Physician, Doctor, Department of Psychiatry, the Affiliated Brain Hospital of Nanjing Medical University, No. 264 Guangzhou Road, Nanjing 210029, Jiangsu Province, China. xuxijia@c-nbh.com
Received: July 25, 2023
Peer-review started: July 25, 2023
First decision: August 24, 2023
Revised: September 6, 2023
Accepted: September 27, 2023
Article in press: September 27, 2023
Published online: November 19, 2023
Abstract
BACKGROUND

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder caused by mutations in CYP27A1. Psychiatric manifestations in CTX are rare and nonspecific, and they often lead to considerable diagnostic and treatment delay.

CASE SUMMARY

A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported. The patient presented with cholestasis, cataract, Achilles tendon xanthoma, and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood. After the characteristic CTX findings on imaging were obtained, a pathological examination of the Achilles tendon xanthoma was refined. Re-placement therapy was then initiated after the diagnosis was clarified by genetic analysis. During hospitalization in the psychiatric ward, the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis. After the patient’s history of CTX was identified, the patient was diagnosed with organic schizophrenia-like disorder, and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.

CONCLUSION

Psychiatrists should be aware of CTX, its psychiatric manifestations, and clinical features and avoid misdiagnosis of CTX for timely intervention.

Keywords: Cerebrotendinous xanthomatosis, Psychotic symptom, CYP27A1 gene mutation, Novel likely pathogenic variant, Case report

Core Tip: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder, characterized by diverse systemic and neuropsychiatric manifestations. Psychiatric manifestations in CTX are typically nonspecific, and past cases have reported a scarcity of psychotic symptoms, particularly delusions and hallucinations. In this report, we present a case of CTX exhibiting a hallucinatory-paranoid syndrome and describe the diagnostic and therapeutic processes associated with CTX. The long-term treatment effect in CTX may depend on age at start of treatment and psychiatrists should be cognizant of CTX to facilitate timely intervention.