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Case Reports
. 2020 Oct:224:195-197.
doi: 10.1016/j.schres.2020.08.012. Epub 2020 Sep 14.

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Matthew K Harner  1 , Maya Lichtenstein  2 , Martilias Farrell  3 , Tyler E Dietterich  1 , Dawn M Filmyer  1 , Lisa M Bruno  1 , Tamara F Biondi  3 , James J Crowley  3 , Gabriel Lázaro-Muñoz  4 , Robert Stowe  5 , Rita A Shaughnessy  1 , Jonathan S Berg  3 , Jin Szatkiewicz  3 , Patrick F Sullivan  6 , Richard C Josiassen  7
Affiliations
Case Reports

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Matthew K Harner et al. Schizophr Res. 2020 Oct.

Abstract

The 3q29 deletion is a rare copy number variant associated with neurodevelopmental and psychiatric disorders, including a >40-fold increased risk for schizophrenia. Current understanding of the clinical phenotype is derived primarily from published cases of patients in childhood or early adolescence. Symptoms include mild to moderate learning disability, developmental delay, facial dysmorphism, microcephaly, ocular disorders, and gastrointestinal abnormalities. There is, however, a lack of detailed longitudinal case studies describing 3q29 deletion syndrome in adults with psychosis. In this case report, we describe the lifetime clinical portrait of a 57-year-old woman with 3q29 deletion syndrome, treatment-resistant psychotic symptoms, multiple medical comorbidities, and a previously unreported co-occurrence of early-onset dementia.

Keywords: 3q29 deletion syndrome; Copy number variant; Dementia; Genetics; Schizophrenia; Treatment resistant psychosis.

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Conflict of interest statement

Declaration of competing interest PFS reports potentially competing financial interests from Lundbeck A/S (advisory committee, grant recipient). Some of the sample recruitment and genomic assays were supported by Lundbeck A/S.

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