RESUMO
A new case of arginase deficiency in a newborn is reported. In contrast with previous cases, this infant showed severe protein intolerance of early onset. Diagnosis was based on the assay of urea cycle enzymes in a postmortem liver sample and on arginase activity in erythrocytes of parents and sister of the patient. "Pedigree" shows that arginase deficiency in this family presents a dramatic course. Congenital hypothyroidism with athyreosis, moderate hepatic fibrosis and megamitochondria are present in the same subject. Possible significance of these findings is briefly discussed.
Assuntos
Hipotireoidismo Congênito , Hiperargininemia , Cirrose Hepática/complicações , Humanos , Hipotireoidismo/complicações , Recém-Nascido , Masculino , LinhagemRESUMO
A new case of arginase deficiency is reported in a male newborn from Spain. In contrast with the majority of the earlier cases, this infant showed severe protein intolerance of early onset. The diagnosis was based on the assay of the urea cycle enzymes in a postmortem liver sample. Levels of erythrocyte arginase were also determined in the parents and in a sister of the patient, and were consistent with heterozygosity. From a study of the pedigree it appears that arginase deficiency in this family presents a dramatic course.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Hiperargininemia , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/genética , Arginina/sangue , Proteínas Alimentares/administração & dosagem , Humanos , Recém-Nascido , Masculino , EspanhaRESUMO
Two new cases of type B congenital interruption of the aortic arch are described. Both had other congenital cardiovascular malformations as well as absence of the thymus and parathyroids. They were newborn male and female, their parents were young and healthy, admitted in our institution because of feeding difficulty, respiratory distress and cyanosis with signs of heart failure. Both were diagnosed at necropsy. According to the site of the interruption of the aortic arch, three types (A, B and C) of absence of the aortic arch are recognized. In our patients as in the majority of reported cases, the interruption of the aortic arch was associated with patent ductus arteriosus, ventricular septal defect and atrial septal defect, and other cardiovascular anomalies. The association of Di George syndrome with cardiovascular anomalies is commented.
