Reports from Universidade Federal do Parana Add New Study Findings to Research in Drug-Induced Dyskinesia (West Syndrome due to ALG13 mutation presenting vigabatrin-associated reversible MRI signal changes and drug-induced dyskinesia).

A recent report from the Universidade Federal do Parana in Brazil discusses the case of a 5-month-old girl with developmental delay and epileptic spasms. The girl was diagnosed with West Syndrome (WS) and was treated with vigabatrin therapy, which led to reversible MRI signal changes. However, the patient also developed drug-induced dyskinesia, a hyperkinetic movement disorder. Further investigation revealed a genetic mutation in the ALG13 gene. This case highlights the challenges in diagnosing and understanding WS and emphasizes the importance of a thorough work-up to determine the underlying genetic cause. [Extracted from the article]