Dados do Trabalho

Título

NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS ASSOCIATED WITH MUTATION IN THE GNAO1 GENE.

Apresentação do caso

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.

Discussão

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.

Comentários finais

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.

Referências (se houver)

Yilmaz S, Turhan T, Ceylaner S, Gökben S, Tekgul H, Serdaroglu G. Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis. Childs Nerv Syst. 2016 Sep;32(9):1567-8. doi: 10.1007/s00381-016-3139-6. Epub 2016 Jun 9. PMID: 27278281.
Larrivee CL, Feng H, Quinn JA, Shaw VS, Leipprandt JR, Demireva EY, Xie H, Neubig RR. Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone. J Pharmacol Exp Ther. 2020 Apr;373(1):24-33. doi: 10.1124/jpet.119.262733. Epub 2020 Jan 6. PMID: 31907305.
Waak M, Mohammad SS, Coman D, Sinclair K, Copeland L, Silburn P, Coyne T, McGill J, O'Regan M, Selway R, Symonds J, Grattan-Smith P, Lin JP, Dale RC, Malone S. GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):221-222. doi: 10.1136/jnnp-2017-315653. Epub 2017 Jul 1. PMID: 28668776.
Koy A, Cirak S, Gonzalez V, Becker K, Roujeau T, Milesi C, Baleine J, Cambonie G, Boularan A, Greco F, Perrigault PF, Cances C, Dorison N, Doummar D, Roubertie A, Beroud C, Körber F, Stüve B, Waltz S, Mignot C, Nava C, Maarouf M, Coubes P, Cif L. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22. PMID: 30103967.
Feng H, Khalil S, Neubig RR, Sidiropoulos C. A mechanistic review on GNAO1-associated movement disorder. Neurobiol Dis. 2018 Aug;116:131-141. doi: 10.1016/j.nbd.2018.05.005. Epub 2018 May 24. PMID: 29758257.

Declaração de conflito de interesses de TODOS os autores

Nenhuma