Nayak Raghavendra B, Lakshmappa Ambika, Patil Nanasaheb M, Chate Sameeran S, Somashekar Lohit
Department of Psychiatry, KLE University's Jawaharlal Nehru Medical College, Belgaum, Karnataka, India.
Indian J Psychol Med. 2012 Apr;34(2):184-6. doi: 10.4103/0253-7176.101796.
Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder with characteristic physical anomalies. It is characterized by mental retardation, postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs, and big toes. Behavioral problems are common with RTS; they include mental retardation, impulsivity, distractibility, instability of mood, stereotypes, poor coordination, atypical depression, and mania. To date, there is lack of literature on the presence of schizophrenia or non-affective psychosis with RTS. Here, we describe two cases where there is co-morbid psychosis with RTS. One case is diagnosed as paranoid schizophrenia and the other as psychosis possibly schizophrenia. Genetic analysis was not done due to unavailability. The possible etiological factors for the association of psychosis with RTS are discussed. Factors such as regulators of RNA polymerase II and hypoxia-inducible factor 1 alpha (HIF1A) may be some common etiological factors for the association of schizophrenia or non-affective psychosis and RTS. Schizophrenia / non-affective psychosis can be a comorbid psychiatric condition with RTS.
鲁宾斯坦-泰比综合征（RTS）是一种罕见的遗传性疾病，具有特征性的身体异常。其特征包括智力发育迟缓、出生后生长发育不足、小头畸形、特定的面部特征、宽阔的拇指和大脚趾。行为问题在RTS中很常见；包括智力发育迟缓、冲动、注意力分散、情绪不稳定、刻板行为、协调性差、非典型抑郁和躁狂。迄今为止，关于RTS合并精神分裂症或非情感性精神病的文献较少。在此，我们描述两例RTS合并精神病的病例。一例被诊断为偏执型精神分裂症，另一例被诊断为可能为精神分裂症的精神病。由于无法进行基因分析，未进行此项检测。本文讨论了精神病与RTS关联的可能病因。诸如RNA聚合酶II调节因子和缺氧诱导因子1α（HIF1A）等因素可能是精神分裂症或非情感性精神病与RTS关联的一些常见病因。精神分裂症/非情感性精神病可能是RTS的一种合并精神疾病。
