Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Le résumé fourni par la source

Case presentation: JCMO, 17 years old, male, second child of non-consanguineous parents. No prenatal and delivery complications. At six months, neurodevelopmental departure delay was observed, he was diagnosed with non-progressive chronic encephalopathy and started treatment with physical therapy and speech therapy. He showed improvement, was able to walk and speak at 2 years and 9 months. At age 9, episodes of movement disorders began abruptly. Anti-NMDA autoimmune encephalitis, Sydenham's chorea and ADEM were then suspected. But after workup with CSF, brain MRI and normal laboratory tests, these hypotheses were ruled out. In 2022, he performed Panel Movement and the result was a neurodevelopmental disorder with involuntary movements due to mutation of the GNAO1 gene. He was recently admitted to our service due to dyskinetic status and used various medications. After more than a month of hospitalization, he was discharged, with improvement in chorea and dystonia. He is on Artane, Diazepam, Gabapentin, Clonidine, Clozapine and Topiramate. He has also used Chlorpromazine, Levodopa, Midazolam, Clobazam, Ketamine and Morphine. Discussion: Through a literature review, it appears that the movement disorder associated with the mutation of the GNAO1 gene shows little response to drug treatment. Currently, tetrabenazine is the drug with the greatest benefit, however, it is not available in Brazil and therefore has not been used. Another treatment option described is the use of DBS, but it has not yet been possible to refer the patient to surgery. Improvement was also reported with Topiramate and it was decided to start this treatment. After the introduction of this medication, we were able to reduce the venous drugs up to suspension and keep control of dyskinesia. However, the patient is very sleepy and does not tolerate attempts to reduce oral medications. Final comments: There is no specific treatment for the neurodevelopmental disorder with involuntary movements associated with a mutation in the GNAO1 gene. And controlling the symptoms, especially chorea, is a big challenge. Publication History Article published online: 18 September 2023 © 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.