酪氨酸羟化酶缺乏相关多巴反应性肌张力障碍患者经抗精神病药与rTMS治疗出现精神病性症状：一例病例报告

CASE REPORT article

Front. Psychiatry

Sec. Schizophrenia

• 湖州市第三人民医院, 湖州市, China

Abstract

BACKGROUND Tyrosine hydroxylase deficiency (THD) is a rare autosomal recessive disorder caused by mutations in the TH gene. THD encompasses a broad phenotypic spectrum that includes dopamine-responsive dystonia (DRD) as its milder presentation, alongside severe infantile parkinsonism and progressive infantile encephalopathy. Although non-motor manifestations—such as depression, anxiety, and sleep disturbances—have garnered increasing attention, psychotic symptoms including hallucinations and delusions remain rarely reported in THD. CASE SUMMARY This report describes a genetically confirmed woman with THD who presented with infantile-onset dystonia. Auditory hallucinations and erotomanic delusions emerged approximately five years after levodopa initiation and persisted despite one-month levodopa withdrawal. Although levodopa markedly improved her dystonia, antipsychotic treatment posed a therapeutic dilemma: risperidone exacerbated motor symptoms, and aripiprazole was limited by poor adherence. A multimodal regimen comprising aripiprazole, quetiapine, and low-frequency repetitive transcranial magnetic stimulation (rTMS) targeting the left temporoparietal cortex was associated with progressive improvement of psychotic symptoms without clinically apparent worsening of dystonia. The independent contribution of rTMS could not be determined given the concurrent pharmacological titration. CONCLUSION 3 Selecting appropriate antipsychotic medication in THD patients with prominent psychotic symptoms poses a considerable challenge. The combination of aripiprazole, quetiapine, and rTMS may represent a potential therapeutic option. To our knowledge, this is the first reported case of genetically confirmed DRD due to THD presenting with prominent psychotic symptoms, and among the few documenting rTMS use in this population. These observations are based on clinical assessment without standardized quantitative measures; the independent efficacy of rTMS cannot be established from this case.

Keywords

case report, dopamine-responsive dystonia, repetitive transcranial magnetic stimulation (rTMS), Schizophrenia, Tyrosine hydroxylase deficiency

Received

26 June 2026

Accepted

29 September 2026

Copyright

© 2026 Shen, Chen, Lv and Fang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

*Correspondence: Haizhi Chen

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