Psychiatry, Austin Health, Heidelberg, Victoria, Australia
Psychiatry, Austin Health, Heidelberg, Victoria, Australia.
BMJ Case Rep. 2024 Aug 31;17(8):e259117. doi: 10.1136/bcr-2023-259117.
22q11.2 deletion syndrome is a condition with complex multisystem involvement, and many clinicians will encounter patients living with the condition. 22q11.2 deletion syndrome is known to significantly increase the risk of psychosis, and there is some emerging evidence that 22q11.2 deletion syndrome may be associated with an increased risk of malignancy. We report on a case of an adolescent female who had a delayed diagnosis of 22q11.2 deletion syndrome after she developed severe psychosis at an early age. She was subsequently diagnosed in late adolescence with papillary thyroid carcinoma. This case contributes to the limited body of evidence regarding the treatment of psychosis secondary to 22q11.2 deletion syndrome and the potential increased risk of malignancy associated with the genetic condition.
22q11.2 缺失综合征是一种涉及多系统的复杂疾病，许多临床医生都会遇到患有该病的患者。已知 22q11.2 缺失综合征显著增加了患精神病的风险，并且有一些新的证据表明 22q11.2 缺失综合征可能与恶性肿瘤风险增加有关。我们报告了一例青少年女性的病例，她在早年出现严重精神病后，被延迟诊断出患有 22q11.2 缺失综合征。后来在青春期晚期被诊断出患有甲状腺乳头状癌。该病例增加了关于治疗 22q11.2 缺失综合征继发精神病的有限证据，并增加了与该遗传病症相关的恶性肿瘤风险。
