Translational Neuroscience LLC, Conshohocken, PA, USA.
Department of Neurology, Geisinger Health System, Wilkes Barre, PA, USA.
Schizophr Res. 2020 Oct;224:195-197. doi: 10.1016/j.schres.2020.08.012. Epub 2020 Sep 14.
The 3q29 deletion is a rare copy number variant associated with neurodevelopmental and psychiatric disorders, including a >40-fold increased risk for schizophrenia. Current understanding of the clinical phenotype is derived primarily from published cases of patients in childhood or early adolescence. Symptoms include mild to moderate learning disability, developmental delay, facial dysmorphism, microcephaly, ocular disorders, and gastrointestinal abnormalities. There is, however, a lack of detailed longitudinal case studies describing 3q29 deletion syndrome in adults with psychosis. In this case report, we describe the lifetime clinical portrait of a 57-year-old woman with 3q29 deletion syndrome, treatment-resistant psychotic symptoms, multiple medical comorbidities, and a previously unreported co-occurrence of early-onset dementia.
3q29 缺失是一种罕见的拷贝数变异，与神经发育和精神疾病相关，包括精神分裂症风险增加 40 多倍。目前对临床表型的理解主要来自于儿童或青少年期患者的已发表病例。症状包括轻度至中度学习障碍、发育迟缓、面部畸形、小头畸形、眼部疾病和胃肠道异常。然而，目前缺乏详细的纵向病例研究来描述成年精神病患者的 3q29 缺失综合征。在本病例报告中，我们描述了一位 57 岁女性的终生临床特征，她患有 3q29 缺失综合征、抗精神病药物治疗抵抗、多种合并症以及以前未报道的早发性痴呆共病。
