RESUMO
Only a small number of cases with familial extrahepatic biliary atresia, suggesting a recessive autosomal inheritance, have been reported. However, the cases reported in twins are consistent with an acquired disease. Here the case of two brothers with familial atresia of the extrahepatic biliary system is studied. Diagnosis was confirmed by laparotomy and histologic study of biliary fibrous remnants. In the present cases parental consanguinity might suggest a recessive autosomal inheritance. However, clustering of cases in a family might also suggest a common exposure to responsible factors not so far identified.
Assuntos
Atresia Biliar/genética , Genes Recessivos , Consanguinidade , Humanos , Lactente , Recém-Nascido , Masculino , LinhagemRESUMO
The authors report two cases of children, who had a severe head injury with large skull fracture. If neurological evolution was good, on the other hand, skull fracture went on to develop, to give a bone defect with a leptomeningeal cyst of arachnoidal origin, as it is pointed out by the classical authors. The authors insist upon the specificity of this entity in childhood, and upon the necessity to observe by repeated clinical and radiological examinations any young child who have a large skull fracture.
