Verhoeven Willem M A, Egger Jos I M, Hovens Johannes E, Hoefsloot Lies
Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.
BMJ Case Rep. 2013 Jan 17;2013:bcr2012007387. doi: 10.1136/bcr-2012-007387.
Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and recent paranoid schizophrenia of which positive, but not negative symptoms, fully remitted upon treatment with antipsychotics. Neither genome-wide array analysis nor mutation analyses disclosed imbalances or mutations in any of presently known KS disease genes. This is the first report on a patient with KS and paranoid schizophrenia in whom extensive genetic analyses were performed. It is concluded that further studies are warranted in order to elucidate a possible increased risk for psychiatric symptoms in patients with KS.
卡尔曼综合征(KS)是一种具有遗传异质性的罕见疾病,其特征为下丘脑性性腺功能减退与嗅觉缺失/嗅觉减退、不同程度的智力残疾以及多种躯体异常并存。约三分之一的患者中,已在至少7种不同基因中鉴定出突变。关于KS患者可能出现的神经精神症状,几乎没有相关数据。本文描述了一名年轻成年男性,此前临床诊断为KS,近期患偏执型精神分裂症,经抗精神病药物治疗后,阳性症状而非阴性症状完全缓解。全基因组阵列分析和突变分析均未发现目前已知的任何KS疾病基因存在失衡或突变。这是首例对患有KS和偏执型精神分裂症的患者进行广泛基因分析的报告。得出的结论是,有必要进行进一步研究,以阐明KS患者出现精神症状的可能风险增加情况。