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15q11.2 BP1-BP2微缺失()综合征患者的迟发性精神病:一例报告及文献综述

Late onset psychosis in a case of 15q11.2 BP1-BP2 microdeletion () syndrome: A case report and literature review.

作者信息

Das Soumitra, Shet Vallabh, Palakodeti Sanjana, Pokhrel Prakriti, Ansari Maliha, Qutaish Osama, Rao Mukund, Ravilla Shyam

机构信息

Western Health, Footscray, VIC, Australia.

Bangalore Medical College and Research Institute, Bangalore, India.

出版信息

SAGE Open Med Case Rep. 2024 Jan 29;12:2050313X241229058. doi: 10.1177/2050313X241229058. eCollection 2024.

Abstract

Burnside-Butler syndrome is an inheritable genetic condition characterized by the partial deletion of specific genetic material located on chromosome 15q11. Individuals diagnosed with this particular medical condition display a variety of neuropsychiatric disorders, including psychosis, aggression, mood disorders, anxiety disorders, developmental disorders involving learning difficulties, language delays, autism spectrum disorders, and attention-deficit/hyperactivity disorder. The authors discuss the case of a 51-year-old Caucasian female diagnosed with Burnside-Butler syndrome at 8 years. The article highlights the importance of raising awareness regarding the complex nature and delayed onset of neuropsychiatric symptoms associated with this syndrome. It also emphasizes the need for comprehensive evaluation and multidisciplinary care for individuals affected by this uncommon condition.

摘要

伯恩赛德-巴特勒综合征是一种遗传性疾病,其特征是位于15号染色体q11区域的特定遗传物质部分缺失。被诊断患有这种特殊疾病的个体表现出多种神经精神障碍,包括精神病、攻击性、情绪障碍、焦虑症、涉及学习困难的发育障碍、语言发育迟缓、自闭症谱系障碍和注意力缺陷多动障碍。作者讨论了一名51岁的白种女性病例,该女性8岁时被诊断患有伯恩赛德-巴特勒综合征。这篇文章强调了提高对与该综合征相关的神经精神症状的复杂性和延迟发作的认识的重要性。它还强调了对受这种罕见疾病影响的个体进行全面评估和多学科护理的必要性。

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