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[综合医院精神科会诊联络服务中的腭心面综合征]

[Velo-cardio-facial syndrome at the psychiatry consulting-liaison service in a general hospital].

作者信息

Fernández-Egea E, Ferrer del Alamo A, Torrebadell Burriel M, Carrió Ybáñez A

机构信息

Servicio de Psiquiatría, Institut de Neurociències, Hospital Clínic, Barcelona.

出版信息

Actas Esp Psiquiatr. 2006 Jan-Feb;34(1):67-8.

Abstract

Psychotic syndromes secondary to genomic disorders have low prevalence and may easily go unnoticed in the daily clinical practice. The velo-cardio-facial syndrome or DiGeorge syndrome (VCFS/DGS) is the genomic disorder most frequently associated to an interstitial deletion of the 22q11 region, with an incidence of one per every 4,000 newborns. Clinical manifestations constitute a constellation of cardiac, facial, urogenital and psychiatric disorders, among which schizophrenia or schizophreniform disorder stand out with an incidence of about 30% over the lifetime. In the following, we present the case of a 21 year old female patient who was admitted to the hematology service of our hospital due to pancytopenia secondary to metimazole, who had non-specified psychiatric background and who received antipsychotic treatment.

摘要

继发于基因组疾病的精神病综合征患病率较低,在日常临床实践中可能很容易被忽视。心脏-颜面-综合征或迪乔治综合征(VCFS/DGS)是最常与22q11区域间质性缺失相关的基因组疾病,每4000名新生儿中就有1例发病。临床表现包括一系列心脏、面部、泌尿生殖系统和精神疾病,其中精神分裂症或精神分裂症样障碍最为突出,终生发病率约为30%。以下,我们介绍一名21岁女性患者的病例,该患者因甲巯咪唑继发全血细胞减少症入住我院血液科,有未明确的精神病史且接受了抗精神病药物治疗。

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