费兰-麦克德米德综合征中双相情感障碍的诊断与治疗：一例病例报告及文献综述
Diagnosis and treatment of bipolar disorder in Phelan-McDermid syndrome: A case report and review of literature.
作者信息
Sun Yu-Yong, Xia Yong, Zhi Qian-Na, Liu Xiao-Yan
机构信息
Department of Psychiatry, Affiliated Mental Health Center & Hangzhou Seventh People's Hospital, Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China.
出版信息
World J Psychiatry. 2025 Feb 19;15(2):101948. doi: 10.5498/wjp.v15.i2.101948.
BACKGROUND
Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by intellectual disability, delayed language development, autism spectrum disorders, motor tone abnormalities, and a high risk of psychiatric symptoms, including bipolar disorder.
CASE SUMMARY
This report presented an 18-year clinical history of a 36-year-old woman with PMS, marked by intellectual disabilities, social withdrawal, and stereotyped behaviors. Diagnosed with bipolar disorder at the age of 18 years old, she encountered significant treatment challenges, including severe adverse reactions to antipsychotic medications in 2022, which led to speech and functional regression. Through rehabilitation and comprehensive therapy, her condition gradually improved. In 2024, after further treatment, her symptoms stabilized, highlighting the complexities and successes of long-term management.
CONCLUSION
Effective management of PMS requires a thorough clinical history, genetic testing, and long-term supportive care.
背景
费伦-麦克德米德综合征（PMS）是一种罕见的遗传性疾病，其特征为智力残疾、语言发育迟缓、自闭症谱系障碍、肌张力异常以及出现包括双相情感障碍在内的精神症状的高风险。
病例摘要
本报告介绍了一名36岁患有PMS的女性18年的临床病史，其特点为智力残疾、社交退缩和刻板行为。她在18岁时被诊断为双相情感障碍，遇到了重大的治疗挑战，包括在2022年对抗精神病药物出现严重不良反应，导致言语和功能退化。通过康复和综合治疗，她的病情逐渐改善。2024年，经过进一步治疗，她的症状稳定下来，凸显了长期管理的复杂性和成功之处。
结论
PMS的有效管理需要详尽的临床病史、基因检测和长期的支持性护理。
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