Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.

Martilias Farrell, Maya Lichtenstein, Matthew K Harner, James J Crowley, Dawn M Filmyer, Gabriel Lázaro-Muñoz, Tyler E Dietterich, Lisa M Bruno, Rita A Shaughnessy, Tamara F Biondi, Stephan Burkholder, Jane Donmoyer, Jonathan S Berg, Jin Szatkiewicz, Patrick F Sullivan, Richard C Josiassen

Journal: Translational psychiatry 2021;10(1):42

PMID: 32066678

Abstract

The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed.

Address: Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Neurology, Geisinger Health System, Wilkes Barre, PA, USA.; Translational Neuroscience, Conshohocken, PA, USA.; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.; Wernersville State Hospital, Wernersville, PA, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. [email protected].; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. [email protected].; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. [email protected].; Translational Neuroscience, Conshohocken, PA, USA. [email protected].
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