Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
Martilias S. Farrell, Maya Lichtenstein, Matthew K. Harner, James J. Crowley, Dawn M. Filmyer, Gabriel Lázaro‐Muñoz, Tyler E Dietterich, Lisa Bruno, Rita A. Shaughnessy, Tamara F. Biondi, Stephan Burkholder, Jane Donmoyer, Jonathan S. Berg, Jin Szatkiewicz, Patrick F. Sullivan, Richard C. Josiassen
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.