Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
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.
Farrell, M., Lichtenstein, M., Harner, M., Crowley, J., Filmyer, D., Lazaro-Munoz, G., Dietterich, T., Bruno, L., Shaughnessy, R., Biondi, T., Burkholder, S., Donmoyer, J., Berg, J., Szatkiewicz, J., Sullivan, P., & Josiassen, R. (2020). Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature. Translational Psychiatry, 10 https://doi.org/https://doi.org/10.1038/s41398-020-0725-x