Patients with Cowden syndrome exhibit mucocutaneous lesions, hamartomatous polyposis of the gastrointestinal tract, and macrocephaly, often complicated by malignant tumors, such as breast, thyroid, and uterine cancers. Autism spectrum and epilepsy have been known as neuropsychiatric symptoms associated with Cowden syndrome; however, to the best of our knowledge, there is no report on cases complicated by schizophrenia. Here, we report a first case of Cowden syndrome complicated by schizophrenia. A 49-year-old Japanese woman started experiencing auditory hallucinations in her teens. She had left breast cancer at the age of 34 years, and right breast cancer at the age of 37 years, all of which were surgically treated. She was also being treated by oral medications for Hashimoto's disease. On consulting her previous doctor for abnormal uterine bleeding that lasted for a year, she was diagnosed with endometrial cancer. However, immediately before surgery, her auditory hallucinations and paranoid delusions became severe, and she was referred to our hospital for detailed examination and treatment. No abnormalities were found on head MRI, and she was diagnosed with schizophrenia on the basis of neuropsychiatric examination findings. After her psychiatric symptoms were controlled by 2 mg of risperidone, she underwent surgery for endometrial cancer. Although there was no apparent family history, physical findings including macrocephaly and papillomatous skin lesions together with her past medical history of multiple malignant tumors suggested Cowden syndrome. Postoperatively, genetic testing revealed a pathogenic variant c.655C > T; p. Gln219* (NM_000314.4) in PTEN, leading to the confirmation of the diagnosis of Cowden syndrome.

Cowden综合征患者表现出皮肤粘膜病变，胃肠道错构瘤性息肉病和大头畸形，通常并发恶性肿瘤，例如乳腺癌，甲状腺癌和子宫癌。自闭症谱系和癫痫病是与考登综合症相关的神经精神症状。然而，据我们所知，尚无关于精神分裂症并发病例的报道。在这里，我们报告第一例并发精神分裂症的卡登综合征。一名49岁的日本妇女从十几岁开始就出现幻觉。她在34岁时患有左乳腺癌，在37岁时患有右乳腺癌，所有这些均通过手术治疗。她还正在接受口服药物治疗桥本氏病。向前医生咨询了长达一年的异常子宫出血后，她被诊断出患有子宫内膜癌。但是，在手术前不久，她的听觉幻觉和偏执妄想变得严重，她被转介到我们医院进行详细检查和治疗。头部MRI未发现异常，并且根据神经精神病学检查结果被诊断为精神分裂症。在她的精神症状由2 mg利培酮控制后，她接受了子宫内膜癌手术。尽管没有明显的家族史，但包括大头畸形和乳头状皮肤病变在内的身体检查结果，以及她过去的多发性恶性肿瘤病史提示了卡登综合症。术后，基因检测显示出病原体c.655C> T；p。PTEN，导致对Cowden综合征的诊断的确认。