Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report

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.