Psychosis: The Beginning to a Mosaic Trisomy 8 DiagnosisAuthor(s): Luís Santos M Silva*, Ana Batista, Adriana Santos Silva, Filipe Malheiro, Joana Miranda and Margarida Duarte
Mosaic trisomy 8 (also known as Warkany's Syndrome) is a rare chromosomopathy whose clinical presentation has a wide phenotypic variability. Intellectual disability is the most common psychiatric feature and there are few reports of psychotic presentations in these patients.
We report the case of a 23-year-old woman, with no family nor personal psychiatric history until the age of 20, when she was first admitted at a psychiatry emergency service, presenting behavioural and sleep disturbances and psychotic symptoms, leading to her first psychiatric inward admission. The psychotic symptoms resolved and she was discharged, nevertheless, she was not able to restart her academic studies. After 1 year she was again admitted in an inward facility with behavioural disturbances, loosening of associations, delusions of guilt and psychomotor retardation. After this episode, she never fully recovered, maintaining the disorganized thinking. On her third inward admission, she presented with thought blockings, loosening of associations, perplexity and disorganized behaviour. For maintaining a huge psychomotor retardation, Internal Medicine observed the patient and the suspicious of a genetic disorder came across, and was then confirmed by the karyotype-Mosaic trisomy 8.
Being a rare disease, with few available case reports, there are a lot of unanswered questions. Regarding psychiatric symptoms, it is still unknown if they are a part of the syndrome or a comorbidity, making it difficult to treat. In this case, extensive investigation led to the genetic diagnosis, otherwise she would have just had the psychiatric diagnosis and the needed genetic follow up would have probably never occurred.