Coffin-Lowry Syndrome: A Case of Clinical Convergence for Psychology, Neuropsychology, Psychiatry, Genetics, and Neurology

J Child Neurol. 2025 Jan 17:8830738241308605. doi: 10.1177/08830738241308605. Online ahead of print.

Abstract

We present the case of a 15-year-old girl with new-onset psychosis and abnormal white matter activity on neuroimaging, engaging multidisciplinary care between genetics, neurology, psychiatry, and neuropsychology. She functioned well in mainstream education despite below average intellectual functioning. Physical examination findings enabled the diagnosis, and patient improved with joint psychological and behavioral outpatient services.

Keywords: Coffin-Lowry syndrome; MRI; psychosis.