Fiammetta Piersigilli

Procalcitonin in detecting neonatal nosocomial sepsis

Objective To investigate the accuracy of procalcitonin (PCT) as a diagnostic marker of nosocomial sepsis (NS) and define the most accurate cut-off to distinguish infected from uninfected neonates. Setting Six neonatal intensive care units (NICUs). Patients 762 neonates admitted to six NICUs during a 28-month observational study for whom at least one serum sample was taken on admission. Main outcome measures Positive and negative predictive values at different PCT cut-off levels. Results The overall probability of an NS was doubled or more if PCT was >0.5 ng/ml. In very-low-birth-weight (VLBW) infants, a cut-off of >2.4 ng/ml gave a positive predictive value of NS near to 50% with a probability of a false-positive diagnosis of NS in about 10% of the patients. Conclusions In VLBW neonates, a serum PCT value >2.4 ng/ml prompts early empirical antibiotic therapy, while in normal-birth-weight infants, a PCT value ≤2.4 ng/ml carries a low risk of missing an NS.

Dorsal Brain Stem Syndrome: MR Imaging Location of Brain Stem Tegmental Lesions in Neonates with Oral Motor Dysfunction

SUMMARY: The anatomic extent of brain stem damage may provide information about clinical outcome and prognosis in children with hypoxic-ischemic encephalopathy and oral motor dysfunction. The aim of this study was to retrospectively characterize the location and extent of brain stem lesions in children with oral motor dysfunction. From January 2005 to August 2009, 43 infants hospitalized at our institution were included in the study because of a history of hypoxic-ischemic events. Of this group, 14 patients showed oral motor dysfunction and brain stem tegmental lesions detected at MR imaging. MR imaging showed hypoxic-ischemic lesions in supra- and infratentorial areas. Six of 14 patients revealed only infratentorial lesions. Focal symmetric lesions of the tegmental brain stem were always present. The lesions appeared hyperintense on T2-weighted images and hypointense on IR images. We found a strong association (P < .0001) between oral motor dysfunction and infratentorial lesions on MR imaging. Oral motor dysfunction was associated with brain stem tegmental lesions in posthypoxic-ischemic infants. The MR imaging examination should be directed to the brain stem, especially when a condition of prolonged gavage feeding is necessary in infants.

Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation

Acute liver failure is a rare heterogeneous syndrome in neonates. We report of a newborn with haemophagocytic lymphohistiocytosis presenting as acute liver failure. Pancytopenia and multi‐organ failure occurred later in the course. He carried two mutations of the perforin gene (PRF‐1), one of which not previously described, causing a complete loss of perforin expression and natural killer cell function.

MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: a preliminary prospective study

Background:As described in animal models, the lectin-complement pathway is central to the propagation of ischemia–reperfusion injuries in many tissues, including the brain. Similarly, it might affect the genesis of brain damage in preterm infants. MBL2 gene single-nucleotide polymorphisms (SNPs), regulating mannose-binding lectin (MBL) serum levels, could predict the risk of adverse neurological outcome in these infants.Methods:To evaluate the association between SNPs of the MBL2 gene and long-term neurological outcomes in preterm infants, 75 infants (gestational age (GA) ≤ 32 wk) were observed in a prospective longitudinal study and assessed by clinical and instrumental exams at 12 and 24 mo of corrected age (CA). They were genotyped for the promoter polymorphism -221 and for the exon-1 variant alleles (at codons 52, 54, and 57) of the MBL2 gene.Results:The MBL2 exon-1 OO genotype was more frequent in children with an adverse neurological outcome (5/35; 7%) than in controls (0/40; 0%), P = 0.045. The risk of intraventricular hemorrhage in carriers of the genotype OO was marked, without reaching statistical significance (odds ratio: 8.67; 95% confidence interval: 0.87–86.06; P = 0.07).Conclusion:Preterm infants who are carriers of MBL2 exon-1 OO genotype are exposed to an increased risk of adverse neurological outcomes.

Blueberry muffin baby due to alveolar rhabdomyosarcoma with cutaneous metastasis

A female neonate with Beckwith-Wiedemann syndrome (BWS) presented at birth with a swelling on the right cheek and multiple nodular and vesicular lesions on the face, limbs and abdomen, resembling the condition referred to as ‘blueberry muffin baby’ (figure 1). Figure 1 Swelling on the right cheek and blueberry muffin-like lesions on the abdomen and limbs. A biopsy was …

Isolated fetal ascites due to Budd-Chiari syndrome.

A 23-year-old woman, gravida 2, para 1, presented at 33 weeks’ gestation with isolated fetal ascites without congenital defects or associated skin edema. The previous pregnancy had been uneventful with a healthy baby delivered by Cesarean section. In the index pregnancy, fetal biparietal diameter and femur length measured on ultrasound examination were consistent with gestational age. The mother had a bicornuate uterus and a single kidney. Serological testing during the first trimester of pregnancy and at 33 weeks’ gestation was negative for cytomegalovirus, Epstein–Barr virus, rubella virus, Toxoplasma gondii, and herpes simplex virus Types 1 and 2. Fetal karyotyping following amniocentesis revealed 46,XY. At 35 weeks’ gestation, a 2700-g male was delivered by repeat Cesarean section. Ultrasound imaging showed moderate hepatomegaly and mild ascites. Liver function tests were normal and serological analysis for hepatitis was negative. At 29 days after birth surgery for an inguinal hernia was carried out. The postoperative course was complicated by generalized edema and evident abdominal distension due to the increasing hepatomegaly (Figure 1). Polymerase chain reaction analysis of urine, saliva and blood excluded cytomegalovirus infection. Laboratory studies for the diagnosis of metabolic diseases, including galactosemia, glycogenosis Type 1 or 3, α1antitrypsin deficiency, tyrosinemia Type 1, neonatal hemochromatosis and Niemann–Pick disease Type C, were normal. An abdominal computed tomographic scan at 48 postnatal days showed enlargement of the liver and spleen, without parenchymal lesions but with hepatic venous obstruction. The celiac trunk, hepatic artery and splenic artery were filled with contrast medium, but the portal vein was not completely visualized and a distinct collateral circulation of the azygos vein was present, leading to a diagnosis of Budd–Chiari syndrome. Investigation for familial thrombophilia showed that the baby was heterozygous for the factor V Leiden mutation. Budd–Chiari syndrome is a rare disorder, resulting from occlusion of hepatic venous drainage by hepatic vein thrombosis. The acute syndrome is characterized by sudden onset of ascites, causing abdominal distension, hepatomegaly, jaundice and hepatic failure. In the chronic form, the disease progresses slowly and symptoms develop over months or even years. Budd–Chiari syndrome associated with familial thrombophilia is extremely rare in newborn babies1 and has not been reported previously as a cause of fetal ascites. Fetal ascites is easily diagnosed by ultrasound imaging, where it appears as fluid in the peritoneal cavity. In our case, fetal ascites was an isolated Figure 1 Radiograph of the neonatal abdomen showing enlargement of the liver and spleen with displacement of the bowel in the lower abdominal quadrant.

Thiamine Deficiency in a Developed Country Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition

Thiamine is a water-soluble vitamin implicated in several metabolic processes. Its deficiency, due to prolonged parenteral nutrition without adequate vitamin supplementation, can lead to multiorgan failure characterized by cardiovascular impairment and metabolic acidosis refractory to bicarbonate administration. Only thiamine administration allows the remission of symptoms. We report 2 preterm infants with acute thiamine deficiency due to prolonged parenteral nutrition without adequate vitamin supplementation.

Peripheral Nerve Blockade and Neonatal Limb Ischemia Our Experience and Literature Review

Considering the high frequency of bleeding complications following fibrinolytic treatment in neonates, peripheral nerve blockade (PNB) has been proposed alone or in association with lower doses of tissue plasminogen activator, as a possible new therapeutic approach in the management of neonatal limb ischemia (LI) secondary to vasospasm and/or thrombosis. The present article provides a review of the current knowledge about the topic, in order to evaluate the efficacy and safety of this therapeutic approach. According to the few case reports documented in literature and to our experience, PNB could be considered as valid procedure for the treatment of LI, especially during neonatal period, when the risk of serious bleeding associated with fibrinolytic or anticoagulant therapy is higher. Peripheral nerve blockade resulted in a safe and effective procedure for the treatment of neonatal vascular spasm and thrombosis.

New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.

Respiratory distress syndrome (RDS) may occur in term and near‐term infants because of mutations in surfactant‐related genes. ATP‐binding cassette A3 (ABCA3), a phospholipid carrier specifically expressed in the alveolar epithelium, is the most frequently involved protein. We report the case of a couple of late‐preterm fraternal twin infants of opposite sex carrying the same compound heterozygous ABCA3 mutations, one of which has never been previously reported, with different disease severity, suggesting variable penetrance or sex‐related differences. ABCA3 deficiency should be considered in term or near‐term babies who develop unexplained RDS.

Propofol and fentanyl sedation for laser treatment of retinopathy of prematurity to avoid intubation

Abstract Background: Despite the optimization of neonatal assistance, severe retinopathy of prematurity (ROP, stage III–IV) remains a common condition among preterm infants. Laser photocoagulation usually requires general anesthesia and intubation, but extubation can be difficult and these infants often affected by chronic lung disease. We retrospectively evaluated the clinical charts of 13 neonates that were sedated with propofol in association with fentanyl for the laser treatment of ROP. This protocol was introduced in our unit to avoid intubation and minimize side effects of anesthesia and ventilation. Methods: Propofol 5% followed by a bolus of fentanyl was administered as sedation during laser therapy to 13 preterm infants, affected by ROP stage III–IV. Propofol was initially infused as a slow bolus of 2–4 mg/kg and then continuously during the entire procedure, at 4 mg/kg/hour, increasing the dosage to 6 mg/kg/hour if sedation was not achieved. A laryngeal mask was placed and patients were ventilated with a flow-inflating resuscitation bag. Results: Thirteen neonates were treated allowing to perform surgery without intubation. Only 4/13 (30.8%) of infants required minimal respiratory support during and/or after surgery. Heart rate after the intervention was higher than that at the beginning while remaining in the range of normal values. Blood pressures before, during and after surgery were similar. No episodes of bradycardia nor hypotension were recorded. Laser treatment was always successful. Conclusion: The good level of anesthesia and analgesia achieved sustains the efficacy of sedation with propofol during laser photocoagulation to avoid intubation and mechanical ventilation during and after the procedure.