RESUMO
We present a review of four cases of hypoglycemia caused by hyperinsulinemia that were diagnosed at our hospital during the last few years. In all of the cases the disease appeared with neurological symptoms (seizures) for the first months of life, followed by hypoglycemia. We propose a diagnostic algorithm which could be used with hypoglycemia cases. In addition, the diagnostic tests are discussed, as well as the treatment applied and the later evolution of each patient.
Assuntos
Hiperinsulinismo/complicações , Hipoglicemia/etiologia , Algoritmos , Diazóxido/administração & dosagem , Diazóxido/uso terapêutico , Feminino , Glucagon , Glucose/análise , Humanos , Hiperinsulinismo/diagnóstico , Hiperinsulinismo/tratamento farmacológico , Insulina/análise , Fígado/química , Masculino , Prontuários Médicos , Estudos RetrospectivosRESUMO
Two siblings, born of a no consanguineous couple, a female and a male, affected by a severe and progressive neurological disease and chronic hemolytic anemia are presented. Their clinical, hematological, biochemical and pathological studies are discussed. One of the patients showed a triosephosphate isomerase deficiency and the carrier condition of their parents was tested. Commentaries about physiopathology of this disease are made.
