Rita Cabano

Cerebral Oxygenation, Superior Vena Cava Flow, Severe Intraventricular Hemorrhage and Mortality in 60 Very Low Birth Weight Infants.

Background: Brain vulnerability in the critically ill preterm newborn may be related to the burden of cerebral hypoxygenation and hypoperfusion during the immediate postnatal period. Objective: We determined the association between adverse outcomes [death or high grade intraventricular hemorrhage (IVH)] and continuous cerebral tissue oxygen saturation (rSO2), superior vena cava flow (SVCf) and cerebral fractional oxygen extraction (CFOE) in very low birth weight (VLBW) infants during the first 48 h of life. Methods: We studied a prospective cohort of 60 VLBW infants admitted to our neonatal intensive care unit within the first 6 h of life between March 2010 and June 2012. rSO2 (expressed as a number of summary measures) was continuously monitored with near-infrared spectroscopy (INVOS 5100 Somanetic) during the first 48 h of life, SCVf was measured at 4-6, 12, 24 and 48 h after birth, and CFOE was calculated. Results: The mean gestational age was 27.9 (SD 2.39); 8 infants died (13.3%) and 7 developed IVH grade III-IV: 1 in the alive group and 6 in the deceased group (p < 0.001). The odds ratio for death was 1.08 (95% CI: 1.015-1.15, p = 0.016) for each 10 periods of rSO2 values <40% in the first 48 h, and 4.2 (95% CI: 1.27-14.05, p = 0.019) for SVCf values <40 ml/kg/min. Among alive babies, mean CFOE decreased at 24, 36 and 48 h; among deceased babies it did not (p < 0.001). In the multivariate analyses, these results retained significance. Conclusions: Both rSO2 ≤40% and SVCf <40 ml/kg/min independently increase the risk of death. The trend in CFOE supports the ischemic-hypoperfusion hypothesis as a mechanism for cerebral damage.

From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset.

Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. The infantile form is severe: the main clinical findings are neurologic signs, associated with hematological signs and bone alterations. Immediate restoration of plasma amino acids is the primary goal and early diagnosis is crucial not to delay the onset of possible treatment. We report a case of homocystinuria with early onset: an initial symptomatology was undervalued by the pediatrician with a delay in diagnosis. Despite the therapy, the patient developed tetraventricular hydrocephalus requiring ventricular drainage. In conclusion, we want to remember the necessity to perform a complete metabolic workup in a patient with clinical manifestations suggestive for homocystinuria, and the importance of early recognition of the signs and symptoms of hypertensive hydrocephalus, a possible complication of this condition.

Neonatal aortic dilatation associated with vitamin A deficiency and its subsequent remission after supplementation therapy

References 1. Centers for Disease Control and Prevention (CDC). Trends in perinatal group B streptococcal disease – United States, 2000–2006. MMWR Morb Mortal Wkly Rep 2009; 58: 109–12. 2. Edmond KM, Kortsalioudaki C, Scott C, Schrag SJ, Zaidi AKM, Cousens S, et al. Group B streptococcal disease in infants aged younger than 3 months: systematic review and meta-analysis. Lancet 2012; 379: 547–56. 3. Tazi A, Disson O, Bellais S, Bouaboud A, Dmytruk N, Dramsi S, et al. The surface protein HvgA mediates group B streptococcus hypervirulence and meningeal tropism in neonates. J Exp Med 2010; 207: 2313–22. 4. Hansen SM, Uldbjerg N, Kilian M, Sorensen UB. Dynamics of Streptococcus agalactiae colonization in women during and after pregnancy and in their infants. J Clin Microbiol 2004; 42: 83–9. 5. Bateman SL, Seed PC. Procession to pediatric bacteremia and sepsis: covert operations and failures in diplomacy. Pediatrics 2010; 126: 137–50. 6. Byrne PA, Miller C, Justus K. Neonatal group B streptococcal infection related to breast milk. Breastfeed Med 2006; 1: 263–70.

A newborn with double-outlet right ventricle and aortopulmonary window associated with maternal phenylketonuria: A first case report

Sir, We report the case of a preterm (36 weeks of gestation), small for gestational age male newborn affected of microcephaly and of a complex congenital heart defect (CHD) including double outlet right ventricle (DORV) with subaortic ventricular defect, right lateral aorta, subaortic and subpulmonary conuses, and pulmonary stenosis (type II DORV according to the classification system proposed by Van Praagh and colleagues (1). The patient also presented aortopulmonary window (APW) between the ascending aorta and the main pulmonary artery (type I APW according to the classification system proposed by Richardson and colleagues (2). A successful repair of the APW was performed at 1 week of life by closing the window with ligation through a median sternotomy. A complete repair of DORV was carried out with success at 5 months of age. The surgical correction consisted of creation of an intraventricular tunnel between the ventricular septal defect and the subaortic outflow tract; the right ventricular outflow tract was enlarged by infundibular resection and placement of a pericardial patch. Caryotype and fluorescence in situ hybridization was performed and excluded chromosomal abnormalities or deletions on the long arm of chromosome 22. Because of the clinical features of the children, maternal serum phenylalanine concentration was analysed and the mother resulted to be affected of phenylketonuria (PKU). Aortopulmonary window represents a failure of the conotruncus to differentiate into the aorta and pulmonary artery. No genetic associations or environmental risk factors are known. In contrast to other major CHDs, there are no systematic or comprehensive data regarding associations, aetiologies, and pathogenesis of DORV and this condition remains one of the least understood categories of CHD. DORV may occur as an isolated cardiac defect, together with other cardiac lesions, or in association with extracardiac anomalies. A variety of chromosomal abnormalities were noted in the cases of DORV reported in literature, comprising slightly <41% of reported cases (3). Many non-chromosomal syndromes have also been associated with DORV and comprised over 56% of the cases reported in literature (3). There are few data associating human DORV with teratogenic exposures; only about 3% of the cases reported in the literature appeared to have a possible teratogenic association (3). To our knowledge, no association is reported in literature between DORV or APW and maternal PKU (MPKU). The most frequent cardiac defects associated with MPKU are tetralogy of Fallot, ventricular septal defects, patent ductus arteriosus and single ventricle. This report supports the hypothesis that type II DORV and APW might reflect abnormal genetically programmed or teratogen-induced maldevelopment of the endocardial cushions crucial in atrioventricular and semilunar valve formation, also affecting portions of the conal and ventricular septum of the heart. Additional human and animal studies are needed to further define genetic and nongenetic aetiologies and pathogenetic mechanisms of DORV and APW. This information will be important to define the natural histories of different causes of DORV and APW, and to accurately define the associated reproductive recurrence risks.

Two-year follow-up of the pharmacokinetics of immunosuppressive drugs in a neonate who underwent heart transplantation

The pharmacokinetic properties of immunosuppressive drugs are quite different in newborns than in adults and few studies describe the pharmacokinetics of these drugs in pediatric heart transplant recipients. We report on the two-year follow up of a neonate who underwent heart transplantation for Hypoplastic Left Heart Syndrome on day of life 9. Two different immunosuppressive regimens were used: cyclosporine, azathioprine and prednisone in the early postoperative period, followed by the routine tacrolimus and mycophenolate mofetil combination plus prednisone from post-transplant day 22. Our findings demonstrate marked variability in immunosuppressive pharmacokinetic profiles early post-transplant. Frequent monitoring of drug levels is required to ensure that they remain within the therapeutic range. After the first 2–3 months post-transplant, changes in immunosuppressive drug levels are less marked and correlate more with the administered dosage.

Cerebral Arteriovenous Shunts Regression in Two Preterm Newborns with Heart Failure in Utero

In this report, the cases of two newborn infants with cerebral arteriovenous shunts and heart failure in utero are presented. Different from the malformations of the vein of Galen, which usually generate a progressive and lethal heart failure after birth, our cases show heart failure resolution after birth, together with cerebral vascular shunt disappearance. Therefore, we hypothesized that the opening of arteriovenous shunts was a secondary modification due to the intrauterine heart failure. From our cases, it appears that, despite the dramatic echographic appearance, generalized cerebral venous dilatation can resolve spontaneously without sequelae.

Contents Vol. 108, 2015

K. Allegaert, Leuven S. Andersson, Helsinki E. Bancalari, Miami, Fla. D. Bassler, Zurich J. Bhatia, Augusta, Ga. C. Bührer, Berlin W. Carlo, Birmingham, Ala. R. Christensen, Salt Lake City, Utah T. Curstedt, Stockholm C. Dani, Florence B. Darlow, Christchurch M. Hallman, Oulu W.W. Hay, Jr., Aurora, Colo. S.E. Juul, Seattle, Wash. M. Kaplan, Jerusalem B. Kramer, Maastricht R.J. Martin, Cleveland, Ohio C.J. Morley, Cambridge J. Neu, Gainesville, Fla. P.C. Ng, Hong Kong M.W. Obladen, Berlin W.S. Park, Seoul A.G.S. Philip, Sebastopol, Calif. M. Roth-Kleiner, Lausanne E. Saliba, Tours O.D. Saugstad, Oslo M.S. Schimmel, Jerusalem M.P. Sherman, Columbia, Mo. E.S. Shinwell, Tsfat K. Simmer, Perth, W.A. J. Smith, Tygerberg R.F. Soll, Burlington, Vt. (Cochrane Review Updates) B. Sun, Shanghai N. Takahashi, Tokyo N. Vain, Buenos Aires F. van Bel, Utrecht J.N. van den Anker, Washington, D.C. M. Vento Torres, Valencia F.J. Walther, Leiden M. Weindling, Liverpool J.A. Widness, Iowa City, Iowa T.F. Yeh, Taipei Fetal and Neonatal Research

Diagnosi prenatale tardiva di infezione da Toxoplasma Gondii: un grave caso di idrocefalo

We describe a case of severe fetal hydrocephalus due to Toxoplasmosis which could not be diagnosed until late gestational age due to the lack of a serologic surveillance during pregnancy. Abnormal ultrasound in the third trimester revealed a massive bilateral ventriculomegaly and Toxoplasma Gondii was demonstrated in maternal blood. This case is an example of severe fetal toxoplasmosis diagnosed in utero.

Sindrome da banda amniotica

Constriction band syndrome is a relatively rare condition in which fetal parts become entangled in the amniotic membrane, leading to deformation, malformation and amputation. Ultrasonographic analysis allows prenatal detection of constriction band syndrome by visualization of amniotic bands attached to the fetus. Treatment of constriction band syndrome must be individualized, and ranges from cosmetic repair to emergency limb-sparing band release. We report an infant with deep amniotic bands who recived treatment with circumferential Z-plasty.

Efficacia del trattamento con octreotide in un caso di linfangectasia polmonare congenita

Congenital pulmonary lymphangiectasia is a rare condition that may present antenatally with pleural effusions and hydrops. This condition is associated with congenital chylothorax, that is the accumulation of lymphatic fluid within the pleural space. We report the use of the octreotide (a somatostatin analogue) in the treatment of congenital chylothorax in a newborn with severe non-immune hydrops who had previously failed conservative medical therapy. The patient improved rapidly after initiation of octreotide with complete resolution after 13 days of continuous therapy (7 microg/kg per hour).