Neonatal Diagnosis of Familial Dysautonomia

Abstract

The serious prognostic implications of familial dysautonomia (FD) for the affected individual and his family make early definitive diagnosis mandatory. Familial dysautonomia has rarely been diagnosed in the neonatal period in hitherto unaffected families. We describe here three such newborn patients to reinforce the limited data available on this subject. In spite of the variability of expression and the incompleteness of the manifestations of FD in the neonatal period, as well as the presence of a number of "dysautonomic" features in normal newborns, we believe that it is possible to establish a diagnosis of FD neonatally. We pay particular note to the altered state of consciousness and behavior in neonatal FD, the unusual posture and limb movements, and the swallowing disorder with tendency to neonatal aspiration. In addition, the incidental finding of bile pigment in the amniotic fluid of an affected fetus without hemolytic disease may hint at a possible approach to fetal diagnosis of this condition.