PDF(Pubmed)
Abstract：
Woodhouse-Sakati syndrome is a rare, autosomal recessive, multisystemic disorder first identified as a constellation of hypogonadism, mental retardation, diabetes, alopecia, deafness, and electrocardiogram abnormalities. We report a case of a 33-year-old woman who was born to consanguineous parents. She is suffering from hypergonadotropic hypogonadism, extrapyramidal symptoms, hypothyroidism, alopecia, and sensorineural hearing loss. Her MRI showed iron depositions in globus pallidus bilaterally. She underwent genetic testing and was diagnosed with Woodhouse-Sakati syndrome. She was started on trihexyphenidyl to treat her extrapyramidal symptoms. A few months later, she started to have psychotic symptoms in the form of auditory hallucinations and delusions of persecution. Although she exhibited psychotic symptoms after starting trihexyphenidyl, it is less likely to be causing her symptoms since the symptoms started a few months after taking the medication and she was not on high doses. Thus, it is more likely to be a part of Woodhouse-Sakati syndrome.
摘要：
伍德豪斯-萨卡蒂综合症很罕见,常染色体隐性遗传,多系统疾病最初被确定为性腺机能减退症的星座，智力迟钝,糖尿病,脱发,耳聋,和心电图异常。我们报告了一例33岁的女性，其父母是近亲。她患有高促性腺激素性腺功能减退症，锥体外系症状,甲状腺功能减退,脱发,和感觉神经性听力损失。她的MRI显示双侧苍白球中铁沉积。她接受了基因检测，被诊断出患有伍德豪斯-萨卡蒂综合症。她开始使用己基苯甲来治疗锥体外系症状。几个月后,她开始出现幻觉和迫害妄想的精神病症状。虽然她在开始用苯并呋喃后表现出精神病症状，这是不太可能导致她的症状，因为症状是在服药几个月后开始的，而且她没有服用高剂量。因此，更有可能是Woodhouse-Sakati综合征的一部分.
