Iria Rodríguez-López , Leticia Fontecha Banegas , Idir Mesián Pérez , Marina Sánchez Román , Victoria Taillefer Aguanell
{"title":"努南综合征患者的第一次精神病发作。关于一个案例","authors":"Iria Rodríguez-López , Leticia Fontecha Banegas , Idir Mesián Pérez , Marina Sánchez Román , Victoria Taillefer Aguanell","doi":"10.1016/j.psiq.2021.100314","DOIUrl":null,"url":null,"abstract":"<div><p>First psychotic episode in a patient with Noonan syndrome. A case report Noonan syndrome is a genetic disease characterised by phenotypic facial abnormalities, short stature, heart and chest wall malformations, delayed neurodevelopment, infertility, and blood dyscrasias. Diagnosis is clinical, with subsequent genetic confirmation. At the psychopathological level, patients with this syndrome present cognitive problems, delayed language development and attention problems in childhood, and impaired affective functioning in adulthood. We present the case of a 39-year-old male with a first psychotic episode, with prominently positive symptoms, in the context of a previous diagnosis of Noonan syndrome.</p></div>","PeriodicalId":39337,"journal":{"name":"Psiquiatria Biologica","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2021-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.psiq.2021.100314","citationCount":"0","resultStr":"{\"title\":\"Primer episodio psicótico en un paciente con síndrome de Noonan. A propósito de un caso\",\"authors\":\"Iria Rodríguez-López , Leticia Fontecha Banegas , Idir Mesián Pérez , Marina Sánchez Román , Victoria Taillefer Aguanell\",\"doi\":\"10.1016/j.psiq.2021.100314\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>First psychotic episode in a patient with Noonan syndrome. A case report Noonan syndrome is a genetic disease characterised by phenotypic facial abnormalities, short stature, heart and chest wall malformations, delayed neurodevelopment, infertility, and blood dyscrasias. Diagnosis is clinical, with subsequent genetic confirmation. At the psychopathological level, patients with this syndrome present cognitive problems, delayed language development and attention problems in childhood, and impaired affective functioning in adulthood. We present the case of a 39-year-old male with a first psychotic episode, with prominently positive symptoms, in the context of a previous diagnosis of Noonan syndrome.</p></div>\",\"PeriodicalId\":39337,\"journal\":{\"name\":\"Psiquiatria Biologica\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.psiq.2021.100314\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Psiquiatria Biologica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1134593421000233\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Psiquiatria Biologica","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1134593421000233","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Primer episodio psicótico en un paciente con síndrome de Noonan. A propósito de un caso
First psychotic episode in a patient with Noonan syndrome. A case report Noonan syndrome is a genetic disease characterised by phenotypic facial abnormalities, short stature, heart and chest wall malformations, delayed neurodevelopment, infertility, and blood dyscrasias. Diagnosis is clinical, with subsequent genetic confirmation. At the psychopathological level, patients with this syndrome present cognitive problems, delayed language development and attention problems in childhood, and impaired affective functioning in adulthood. We present the case of a 39-year-old male with a first psychotic episode, with prominently positive symptoms, in the context of a previous diagnosis of Noonan syndrome.
期刊介绍:
Es la Publicación Oficial de la Sociedad Española de Psiquiatría Biológica. Los recientes avances en el conocimiento de la bioquímica y de la fisiología cerebrales y el progreso en general en el campo de las neurociencias han abierto el camino al desarrollo de la psiquiatría biológica, fundada sobre bases anatomofisiológicas, más sólidas y científicas que la psiquiatría tradicional.