Co-occurrence of Marfan syndrome and schizophrenia: What can be learned?

We report on a young female patient diagnosed with Marfan syndrome upon admission to the psychiatric hospital for a first psychosis. Mutation analysis of FBN1 identified a de novo nonsense mutation (p.Glu178X). This finding implies co-occurrence of schizophrenia and Marfan syndrome, an observation that has been reported several times in the past. Although, this co-occurrence can be coincidental, several arguments provide strong evidence that Marfan syndrome and schizophrenia might share common etiological pathways. This observation can be important in light of both the etiology of schizophrenia and the diagnosis of Marfan syndrome.

► We report on a patient with Marfan syndrome and schizophrenia. ► Mutation analysis of FBN1 identified a de novo nonsense mutation (p.Glu178X). ► There are arguments that both disorders could be associated not simply due to chance. ► Psychiatric symptoms may be part of the clinical phenotype of Marfan syndrome. ► Etiological pathways may be shared between both disorders.