Familial nesidioblastosis: more evidence for autosomal recessive inheritance

Abstract

Severe neonatal hypoglycaemia in five Saudi Arab infants of both sexes belonging to two families of consanguineous parents is reported. All of these infants needed sub-total pancreatectomy to maintain normoglycaemia. Histopathological studies with immunohistochemistry proved diffuse nesidioblastosis of the pancreas in all five infants. Data obtained from these families and other families reported in the literature strongly suggest that familial nesidioblastosis is an autosomal recessive disorder. Knowledge of the inheritance pattern is important both for genetic counselling and for making a prompt diagnosis in subsequently affected siblings, as delay in appropriate treatment may have serious consequences.