RESUMO
We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene confirmed the diagnosis. GSD0 is more common than previously assumed. Recognition of the variable phenotype spectrum of GSD0 and routine analysis of GYS2 are essential for the correct diagnosis.
Assuntos
Doença de Depósito de Glicogênio/diagnóstico , Glicogênio Sintase/deficiência , Fígado/enzimologia , Análise Mutacional de DNA , Feminino , Doença de Depósito de Glicogênio/enzimologia , Doença de Depósito de Glicogênio/genética , Glicogênio Sintase/genética , Humanos , Lactente , Mutação , FenótipoRESUMO
Sudden death from asthma is rare but occurs in the young age group. We recently faced this rare situation when 3 asthmatic children were dead on arrival at the local emergency room. All 3 had been treated with beta-2 agonist inhalation on a regular basis, without anti-inflammatory treatment, 2 of the children died while inhaling the beta-2 agonist. It is important that there be clear guidelines and full education about the management of asthma, during and between exacerbations, to prevent such deaths.
