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

被引：0
作者：
Kim, Ji-Sun [1 ]
Ilaria, Shawen [2 ]
Hundal, Jasdeep [3 ]
Bhise, Vikram [4 ]
机构：
[1] Weill Cornell Med Ctr, Ctr Neurogenet, 413 East 69th St, New York, NY 10021 USA
[2] RWJ Rutgers Univ Hosp, Dept Psychiat, New Brunswick, NJ USA
[3] RWJ Rutgers Univ Hosp, Dept Neurosurg, New Brunswick, NJ USA
[4] RWJ Rutgers Univ Hosp, Dept Pediat, New Brunswick, NJ USA
来源：
JOURNAL OF CHILD NEUROLOGY | 2025年
关键词：
Coffin-Lowry syndrome; MRI; psychosis; RSK2; MUTATIONS; RPS6KA3; FAMILY; MRI;
D O I：
10.1177/08830738241308605
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：374 / 378
页数：5
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