Luiz Felipe Vasconcellos, Vinicius Pinheiro Soares, Lucas Leroux de Ricchezza
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引用次数: 0
Abstract
Background: Cerebral palsy (CP) should not be considered a diagnosis, but rather a syndrome related to several etiologies, including, but not limited to, neurological sequelae of a perinatal brain injury.
Case report: 24-years-old man with dystonia and delayed motor and cognitive development had been previously diagnosed with CP. Molecular genetic testing identified a heterozygosity variant in GNAO 1 gene. A therapeutic trial with levodopa was started, with improvement of dystonia.
Discussion: GNAO1 gene variant disorders share similarities with other causes of CP syndrome, and thus investigation of this variant should be included in instances of CP syndrome without a clear history of previous perinatal brain injury. GNAO1 dystonic phenotype (DYT-GNAO1) should be considered as dopa-responsive dystonia in some cases.
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