Necrotizing enterocolitis in a premature infant as the presenting symptom of familial dysautonomia in the neonatal period: case report and review of the literature.

We present a case of a premature infant with early-onset necrotizing enterocolitis as the presenting symptom of familial dysautonomia. The diagnosis of familial dysautonomia in the neonatal period is usually rare and difficult, because many of the symptoms may be mild or nonspecific, whereas other characteristic signs and symptoms appear only later in life. The neonatologist should be aware of this rare diagnosis in the neonatal period, especially in the offspring of Ashkenazi Jews. The diagnosis is genetic. Preconception counseling to future parents belonging to populations at risk should include recommendation for genetic screening test to identify carriers of the mutations in the familial dysautonomia gene.

Cerebrospinal fluid leak in a premature neonate.

Cerebrospinal fluid (CSF) cranial leaks in neonates are rare, and only four case reports have been published previously. Two of the previous cases were also in preterm newborns delivered at 30 weeks gestation. We present a case of CSF leak in a premature neonate delivered at 30 weeks gestation. Our approach to treatment was different from that previously described. After the initial treatment with local packing bandage failed to stop CSF leakage, local exploration with wound suturing was done, with resultant ceasing of leakage within 12 hours of birth. This case presents a rare complication of CSF leakage caused by internal scalp monitoring. This complication seems to be more frequent in premature babies, thus special consideration should be taken in premature infants before applying such monitoring.

How accurate are neonatologists in identifying clinical jaundice in newborns?

This study reevaluates the clinical ability to accurately identifyjaundice in neonates. Three hundred seventy-one term infants were clinically asseseed forjaundice, before discharge home on day 2 to 3 of life. Bilirubin levels obtained at the same time were significantly higher in the newborns clinically diagnosed as beingjaundiced. Our neonatologists were able to diagnose jaundice at clinically low levels, and not to misdiagnose significant hyperbilirubinemia in the majority of the infants. The trained human eye can still discriminate between the jaundiced and nonjaundiced newborn, and clinical impression of jaundice remains a reliable primary screening tool for significant neonatal hyperbilirubinemia.