1 - Serviço de Neurologia Pediátrica, Área de Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, Lisboa
2 - Serviço de Pediatria Hospital Fernando Fonseca, Amadora
5th International Symposium on Paediatric Movement Disorders, 2-3 Fevereiro 2017, Barcelona (poster)
XI Congresso da Sociedade Portuguesa de Neuropediatria “O Doente Crónico em Neuropediatria”, 16-17 Fevereiro 2017, Porto (poster)
Resumo: A 15-month-old male first presented for neurologic evaluation due to hypotonia and global delay. Generalized dystonia without diurnal variation and the absence of pyramidal and cerebellar signs associated were also noted. A first levodopa trial at 3 years improved dystonic posturing and he was then able to walk with support and use his hands to feed himself. He had a first episode of dystonic status at 6 years during varicella infection and the reintroduction of levodopa was not tolerated. He developed frequent episodes of dystonia aggravation, chorea and ballistic movements triggered by emotional variation. There was a clinical improvement on tetrabenazine and propanolol but no sustained response to risperidone, haloperidol, tryhexiphenidyl, benzodiazepines, acetazolamide, carbamazepine and valproate. He suffered two further episodes of status dystonicus at eleven years, one of them causing severe motor regression. Genetic investigation identified a mutation c.626G>A; p.Arg209His on GNAO1 gene previously described and associated with early-onset dystonia. There are no known functional studies done on this mutation. Further metabolic and imaging investigations were normal.