Piel marmórea telangiectasica congenita y sindactilia en un recién nacido prematuro: A proposito de un caso / Congenital cutis marmorata telangiectatica and syndactyly in a preterm: Case report

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

Surfactant treatment for neonatal respiratory disorders other than respiratory distress syndrome.

BACKGROUND: It is suggested that there may be expanded use of surfactant replacement for the neonatal diseases such as meconium aspiration syndrome (MAS), pneumonia and possibly bronchopulmonary dysplasia (BPD). OBJECTIVE: To evaluate the characteristics and short-term outcome of the neonates given exogenous surfactant because of the diseases other than respiratory disease syndrome (RDS). METHODS: This retrospective study included 35 neonates admitted to the neonatal intensive care unit from January 2012 to December 2012 for an expanded use of surfactant. Data related to gestational age, birth weight, gender and perinatal risk factors were obtained from the patients' records. The short-term prognosis was also noted. RESULTS: The diagnosis was sepsis in 16 patients, eight MAS, seven transient tachypnea of the newborns (TTN) and four BPD. Mean gestational age was 35.6 ± 4.5 weeks and mean birth weight was 2661 ± 981 g. Of overall cases, 65% were boys and 35% girls. The mortality rate was 17%. Of six fatal cases, three was with BPD, two with sepsis and one with MAS. CONCLUSION: We think that surfactant replacement may be life saver in the neonatal diseases other than RDS such as BPD, MAS and sepsis by rapidly improving oxygenation. Further investigation is necessary to validate the significance of expanded use of surfactant.

Effects of synchronized intermittent mandatory ventilation versus pressure support plus volume guarantee ventilation in the weaning phase of preterm infants*.

OBJECTIVE: To compare the effects and short-term outcomes of pressure support ventilation with volume guarantee versus synchronized intermittent mandatory ventilation in the weaning phase of very low-birth weight infants with respiratory distress syndrome. DESIGN: Randomized controlled prospective study. SETTING: Tertiary care neonatal unit. PATIENTS: A total of 60 premature infants who were less than 33 weeks' gestation and/or less than 1,500 g birth weight and received mechanical ventilation because of respiratory distress syndrome were studied. INTERVENTIONS: All infants were ventilated from the time of admission with synchronized intermittent positive pressure ventilation mode after surfactant treatment for respiratory distress syndrome and then switched to pressure support ventilation with volume guarantee or synchronized intermittent mandatory ventilation mode in the weaning phase. The ventilatory variables and neonatal outcomes were recorded in each group. MEASUREMENTS AND MAIN RESULTS: The mean peak inflation pressure was higher in synchronized intermittent mandatory ventilation group (p < 0.001) and the mean airway pressure was higher in pressure support ventilation with volume guarantee group (p = 0.03), whereas mean tidal volume and respiratory rates were similar in both groups. The prevalence of postextubation atelectasis was higher in synchronized intermittent mandatory ventilation group, but the difference was not statistically significant (p = 0.08). No differences were found in the prevalence of reintubation, patent ductus arteriosus, intraventricular hemorrhage, retinopathy of prematurity, bronchopulmonary dysplasia, and pneumothorax between the groups. CONCLUSIONS: Pressure support ventilation with volume guarantee mode may be a safe and feasible mode during the weaning phase of very low-birth weight infants on mechanical ventilation support for respiratory distress syndrome with respect to reducing the frequency of postextubation atelectasis and using less peak inflation pressure.

Homocysteine levels and its association with intraventricular hemorrhage in preterm infants born to preeclamptic mothers.

OBJECTIVE: To investigate the relation between serum homocysteine levels and intraventricular hemorrhage (IVH) in preterm infants born to preeclamptic mothers. METHOD: This study included 84 preterm infants (42 born to preeclamptic mothers and 42 born to normotensive healthy mothers) who were admitted to Izmir Tepecik Training and Research Hospital Neonatology Clinic on the postnatal first day. The measurement of homocysteine levels in all samples were performed with an Immulite 2000 analyzer, using the chemiluminescence method. Cranial ultrasounds were performed on the fourth day and in the 1 month of age. RESULTS: The mean plasma levels of homocysteine in infants born to preeclamptic mothers and in the control group were 8.2 ± 5.9 µmol/L and 5.3 ± 2.7 µmol/L, respectively. The plasma levels of homocysteine were significantly higher in the study group (p = 0.006). There was no association between the plasma homocysteine levels and IVH or other neonatal complications including necrotizing enterocolitis, retinopathy of prematurity, bronchopulmonary dysplasia and mortality. CONCLUSION: Our data suggest that plasma levels of homocysteine are higher among infants born to preeclamptic mothers, but these high levels are not associated with IVH and other neonatal complications in preterm infants.

An unusual case of trisomy 18 associated with paucity of bile ducts.

A case of neonatal cholestasis associated with Trisomy 18 (Edward's syndrome) is presented. A 3-day-old boy was referred to our clinic due to respiratory distress, elevated serum direct bilirubin levels, a systolic heart murmur, growth restriction and micrognathia. Liver biopsy and chromosomal analysis revealed paucity of intrahepatic bile ducts and Trisomy 18. Extrahepatic biliary atresia was reported in only a few patients with Trisomy 18. To our knowledge, we described for the first time a patient with Trisomy 18 and neonatal cholestasis associated with paucity of interlobular bile ducts.

Central nervous system involvement of epstein barr virus associated lymphoproliferative disorder in a child with acute lymphoblastic leukemia: successful treatment with rituximab and interferon-alpha.

UNLABELLED: Central nervous system (CNS) involvement of Epstein-Barr virus (EBV)-associated lymphoproliferative disease is a rare and serious complication in children with leukemia. Although rituximab therapy seems to be promising in these cases, persistent hypogammaglobulinemia may appear after treatment due to complete depletion of normal B lymphocytes in the peripheral blood. Here we report isolated CNS involvement of EBV-associated lymphoproliferative disorder in a 4-year-old boy with acute leukemia. The patient was treated with rituximab and interferon alpha; however, persistent hypogammaglobulinemia developed as a complication. Given the rarity of the complication in children receiving these agents, our experience with such a case may be helpful to others. CONFLICT OF INTEREST: None declared.

Impact of volume guarantee on synchronized ventilation in preterm infants: a randomized controlled trial.

PURPOSE: The aim of this randomized controlled trial was to assess whether the addition of volume guarantee (VG) to triggered ventilation decreases the duration of ventilation in very low birth weight (VLBW) infants with respiratory distress syndrome (RDS). METHODS: Infants were randomized into two groups to initially receive either assist/control (A/C) or A/C plus VG ventilation and then weaned with synchronized intermittent mandatory ventilation (SIMV) or SIMV plus VG. RESULTS: Forty-five infants were included in the study. The demographic and clinical characteristics, values of tidal volume (VT), peak inspiratory pressure (PIP), fraction of inspired oxygen, carbon dioxide tension, and pH were similar for all participating infants initially. During the follow-up, the VT levels were more stable, and the PIP levels were significantly decreasing in the VG group. Although the duration of ventilation was shorter in the VG group, this trend was not statistically significant. The incidences of death and bronchopulmonary dysplasia (BPD) were not significantly different, but the combined outcome of death or BPD was lower in the VG group. Although the VG group experienced less frequent BPD, periventricular leukomalacia, and intraventricular hemorrhage, these differences were not statistically different. CONCLUSION: The VG option, when combined with A/C (in the acute phase of RDS) and SIMV (in the weaning), reduced VT variability, and may have shortened the duration of ventilation in VLBW infants. Overall mortality and BPD rates did not change, but their combined outcome was significantly improved in infants treated with VG modes as compared to those treated with synchronized pressure-limited modes alone.

Reticular dysgenesis in a preterm infant: a case report.

Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs) and characterized by impairment of both lymphoid and myeloid cell development. Neutropenia unresponsive to recombinant human granulocyte colony-stimulating factor (rGCSF) is the hallmark of RD and the clinical course is rapidly fatal due to overwhelming infections. The authors report a female newborn at 32 weeks of gestation presenting with severe leukopenia at birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. She had no response to granulocyte colony stimulating factor (rGCSF) treatment and died with sepsis at age of 2 months.

Protective effects of methylxanthines on hypoxia-induced apoptotic neurodegeneration and long-term cognitive functions in the developing rat brain.

Aminophylline is widely used in the management of premature apnea. The methylxanthines aminophylline, theophylline and caffeine are nonspecific inhibitors of adenosine receptors. There are no proven effects of methylxanthines on acute brain injury and long-term cognitive functions. This study is aimed at investigating the effects of methylxanthines on brain injury and cognitive functions. Newborn rats were allocated to form four groups, which contained at least 21 pups: two groups were exposed to room air and two groups were exposed to intermittent hypoxia. Intraperitoneal aminophylline was administered to treatment groups during postnatal day 1 through postnatal day 7. All rats were sacrificed on postnatal day 8 via intraperitoneal pentobarbital and the effects of the administered drug on brain injury and adenosine receptor expression were determined. Cognitive functions of rats were evaluated via water maze test. Histopathological evaluation demonstrated that aminophylline significantly diminished the number of 'apoptotic cells' in the hippocampal CA1, CA2, CA3 and gyrus dentatus regions in the brain. Aminophylline treatment immediately after hypoxic insult significantly improved long-term neurobehavioral achievements. In conclusion, aminophylline administration immediately after neonatal hypoxic insult provides benefit over a prolonged period in the developing rat brain.