Significant improvement of psychotic symptoms in treatment-resistant schizophrenia with clozapine in an adolescent with SHINE syndrome: a case report

BMC Psychiatry

Case Report

Rebecca Wondimu¹  Arielle Rubin¹  Gaby Ritfeld¹  Theresa Grebe¹  Maxine Yang² 

[1] Phoenix Children’s Hospital, 85016, Phoenix, AZ, USA;University of Arizona College of Medicine – Phoenix, 85004, Phoenix, AZ, USA;

关键词: Synaptopathy;    Clozapine;    Early-onset;    Treatment-resistant;    Schizophrenia;    Psychosis;    Genetic testing;    Pediatric;   

DOI  :  10.1186/s12888-023-04962-y

 received in 2023-03-14, accepted in 2023-06-15,  发布年份 2023

来源: Springer

【 摘 要 】

This report highlights a rare single-gene cause of early-onset, treatment-resistant schizophrenia, and its unique responsiveness to clozapine therapy. This case describes a pediatric female who was diagnosed with early-onset schizophrenia and catatonia in her early adolescence, and was later found to have DLG4-related synaptopathy, also known as SHINE syndrome. SHINE syndrome is a rare neurodevelopmental disorder caused by dysfunction of the postsynaptic density protein-95 (PSD-95), encoded by the DLG4 gene. After failing three antipsychotic drug treatments, the patient was started on clozapine, which resulted in significant improvements in positive and negative symptoms. This case illustrates the impact of clozapine in treatment-resistant early-onset psychosis and exemplifies practical implications for genetic testing in early-onset schizophrenia.

【 授权许可】

CC BY   
© The Author(s) 2023