这份报告强调了一种罕见的单基因早期发病的原因,难治性精神分裂症,以及它对氯氮平治疗的独特反应。该病例描述了一名儿科女性,她在青春期早期被诊断患有早发性精神分裂症和紧张症,后来被发现患有DLG4相关的突触病,也被称为SHINE综合征。SHINE综合征是一种罕见的神经发育障碍,由突触后密度蛋白-95(PSD-95)功能障碍引起,由DLG4基因编码。在三次抗精神病药物治疗失败后,病人开始服用氯氮平,这导致了阳性和阴性症状的显着改善。该案例说明了氯氮平对治疗耐药的早发性精神病的影响,并举例说明了对早发性精神分裂症的基因检测的实际意义。
This report highlights a rare single-gene cause of early-onset, treatment-resistant schizophrenia, and its unique responsiveness to clozapine therapy. This
case describes a pediatric female who was diagnosed with early-onset schizophrenia and catatonia in her early adolescence, and was later found to have DLG4-related
synaptopathy, also known as SHINE syndrome. SHINE syndrome is a rare neurodevelopmental disorder caused by dysfunction of the postsynaptic density protein-95 (PSD-95), encoded by the DLG4 gene. After failing three antipsychotic drug treatments, the patient was started on clozapine, which resulted in significant improvements in positive and negative symptoms. This
case illustrates the impact of clozapine in treatment-resistant early-onset psychosis and exemplifies practical implications for genetic testing in early-onset schizophrenia.