Assuntos
Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/patologia , Ecocardiografia , Doença de Depósito de Glicogênio Tipo III/diagnóstico por imagem , Doença de Depósito de Glicogênio Tipo III/patologia , Biópsia , Cardiomiopatia Hipertrófica/diagnóstico , Criança , Diagnóstico Diferencial , Ecocardiografia/métodos , Feminino , Doença de Depósito de Glicogênio Tipo III/diagnóstico , Humanos , Imageamento por Ressonância MagnéticaRESUMO
The purpose of the present report is to document a 20-year-old woman with glycogenosis type III who presented a malformation of cortical development, in this case a polymicrogyria over bilateral perisylvian regions. Association of a malformation of cortical development in this type of glycogenosis has not been previously reported. The existence of previous cases of glycogenosis associated with malformations of cortical development led us to believe that glycogen storage during pregnancy may act as a harmful prenatal event. On the other hand, the presence of a lesion associated with severe neurologic deficits in one patient with a milder form of glycogenosis is in disagreement with the idea that there is a strong correlation between the severity of the central nervous system lesion and that of the disease.