Association of schizophrenia and Carpenter syndrome
Association of schizophrenia and Carpenter syndrome
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DOI：
10.1034/j.1601-5215.2003.00046.x
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发表时间：
2003-10-01
影响因子：
3.8
通讯作者：
Pancheri, P
中科院分区：
文献类型：
--
作者：
Bersani, G;Maddalena, F;Pancheri, P
结论据我们所知，这是第一例精神分裂症的卡彭特病人。Carpenter综合征与脑畸形（参考文献Taravath和Tonsgard 5）有不同程度的相关性，这些脑畸形也通常在精神分裂症中观察到，例如额叶萎缩、小脑蚓部萎缩、脑室扩大和胼胝体发育不全。虽然不能排除这两种疾病的独立发生，但这些共同的改变可能提示共同的分子遗传机制。然而，这些疾病之间可能的关联不能被证明，而这两种疾病的遗传相关性仍然未知，这表明需要进一步调查卡彭特综合征的精神症状以及精神病患者的躯体特征。鉴于这种关联的罕见性，缺乏可用的数据，大多数信息来自儿科报告。此外，长期随访的卡彭特患者是失踪，这可能会确定在成人患者的临床描述的偏见，低估了精神症状的患病率。另一个主要问题是智力迟钝的发生率很高，这可能会掩盖行为状况，特别是在非精神病背景下。
ConclusionsTo our knowledge this is the first case of schizophrenia in a Carpenter patient. Carpenter syndrome has been variously associated with brain malformations (Reference Taravath and Tonsgard 5) that have also typically been observed in schizophrenia, eg frontal atrophy, cerebellar vermis atrophy, ventricular enlargement and agenesis of corpus callosum. While the independent occurrence of these two disorders cannot be excluded, these shared alterations may be suggestive of a common molecular genetic mechanism. However, a possible association between these disorders cannot be demonstrated while the genetic correlates of both disorders remain unknown, suggesting the need for further investigation of psychiatric symptoms in Carpenter syndrome as well as somatic features in psychiatric patients. Given the rarity of this association, available data are lacking and most information comes from pediatric reports. Moreover, long-term follow-up of Carpenter patients is missing and this may determine a bias in the clinical description of adult patients and underestimate the prevalence of psychiatric symptoms. Another major issue is the high occurrence of mental retardation, which may mask the behavioral picture, especially in a non-psychiatric context.