RESUMO
BACKGROUND: Epileptic myoclonus in infancy is associated with various pathological conditions. In the absence of an identifiable central nervous system lesion, an underlying metabolic genetic cause is often suspected. PATIENTS: We describe two infants with glucose transporter 1 deficiency syndrome who presented with epileptic myoclonus. One infant presented with an electroclinical phenotype mimicking benign myoclonic epilepsy of infancy; the other infant had a novel mutation and presented with opsoclonus and epileptic myoclonus with a robust response to high-dose steroids. Both infants began the ketogenic diet after the diagnosis of glucose transporter 1 deficiency syndrome, with good yet variable treatment responses. CONCLUSIONS: These infants demonstrate that an evaluation for glucose transporter 1 deficiency syndrome is warranted in patients presenting with an electroclinical picture compatible with benign myoclonic epilepsy of infancy as well as in patients with intractable epilepsy who demonstrate a significant response to steroid therapy.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/dietoterapia , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Epilepsias Mioclônicas/dietoterapia , Epilepsias Mioclônicas/fisiopatologia , Proteínas de Transporte de Monossacarídeos/deficiência , Transtornos da Motilidade Ocular/dietoterapia , Transtornos da Motilidade Ocular/fisiopatologia , Erros Inatos do Metabolismo dos Carboidratos/complicações , Dieta Cetogênica , Epilepsias Mioclônicas/etiologia , Feminino , Humanos , Lactente , Transtornos da Motilidade Ocular/etiologiaRESUMO
BACKGROUND AND OBJECTIVE: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC. PATIENTS AND METHOD: It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified. RESULTS: Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each). CONCLUSIONS: In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.