Neonatal Marfan syndrome: Report of two cases.

Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

The assessment of intracranial dynamics by transcranial Doppler sonography in perioperative period in paediatric hydrocephalus.

PURPOSE: To evaluate Doppler parameters of anterior cerebral artery (ACA) and relationship to morphological parameters of cerebral ventricles and periventricular brain tissue in paediatric hydrocephalus before and after drainage procedure. METHODS: Forty newborns with hydrocephalus were evaluated before and after the drainage procedure. The morphological parameters of brain (ventricular index, width of ventricles, haemorrhagic lesions, asymmetric ventricular dilatation and dynamics of ventricles) were measured by transcranial ultrasonography. The haemodynamic parameters of ACA (peak systolic blood flow velocity, end-diastolic blood flow velocity and resistance index/RI/) were evaluated by Doppler ultrasonography. The correlation between morphological and haemodynamic parameters was analysed. RESULTS: We found significant decrease of ventricular dilatation, which was accompanied with significant decrease of basal and compressive RI-ACA after drainage procedure. The correlation between basal RI-ACA, compressive RI-ACA and the dynamics of ventricular dilatation was not significant before and after drainage operation, as well. The significant correlation between preoperative basal RI-ACA, postoperative compressive RI-ACA and asymmetry of cerebral ventricles was confirmed. Statistical analysis showed significant correlation between basal RI-ACA, compressive RI-ACA and haemorrhagic lesions after drainage operation. CONCLUSIONS: The results of our study showed the alteration of Doppler parameters of cerebral circulation in newborns with hydrocephalus before the drainage procedure. The successful drainage operation leads to the improvement of haemodynamic parameters of cerebral circulation. However, the statistical analysis showed the influence of some intracranial factors-the asymmetry of dilatation of lateral cerebral ventricles and periventricular haemorrhagic lesions on the Doppler parameters of cerebral circulation.

Changes in heart rate variability in a premature infant with hydrocephalus.

Objective To define changes of heart rate variability in premature infant with hydrocephalus before and after drainage procedure. Study Design The authors report a case of a premature infant with hydrocephalus with analysis of heart rate variability before and after drainage procedure. Three subsequent recordings of the electrocardiography and heart rate variability were done: the first at the age of 22 days before insertion of ventriculoperitoneal shunt, the second at the age of 36 days with functional shunt, the third at the age of 71 days (before discharge). Results Before drainage operation, there was reduced heart rate variability in time and spectral domains, and sympathetic activity was dominant. After surgery, an increase in heart rate variability parameters was found, particularly with spectral analysis. The ratio of low-frequency/high-frequency band and relative power of the low-frequency band decreased, reflecting enhanced parasympathetic activity. Conclusion Results of the heart rate variability analysis in a preterm infant with hydrocephalus before and after drainage procedure showed marked improvement in chronotropic cardiac regulation. Evaluation of heart rate variability in premature infants with hydrocephalus with increased intracranial pressure can be an additional method for monitoring of cardiac dysregulation and improvement of the cardiovascular control after successful drainage procedure.

Assessment of renal circulation in small for gestational age and appropriate for gestational age term newborns: a prospective study.

PURPOSE: To compare selected parameters of renal circulation between small for gestational age (SGA) and appropriate for gestational age (AGA) newborns. METHODS: Fifty-two SGA and 100 AGA term newborns were examined. The size of the kidneys were measured, and renal blood flow in the central and intraparenchymal renal arteries were assessed via Doppler sonography. Peak systolic velocity (PSV), end diastolic velocity (EDV), mean blood flow velocity (V mean), resistance index (RI), and pulsatility index (PI) were determined and compared between the groups. RESULTS: No statistically significant differences in the velocity parameters were found between SGA and AGA infants in central renal arteries. Slightly higher RIs and PIs were seen in AGA newborns (RI, 0.76 +/- 0.13 versus 0.78 +/- 0.06 [p < 0.05]; PI, 1.65 +/- 0.54 versus 1.84 +/- 0.46 [p < 0.05]). There were statistically significant differences between the groups in all measured parameters in intraparenchymal arteries (RI, 0.57 +/- 0.11 versus 0.63 +/- 0.05 [p < 0.001]; PI, 0.89 +/- 0.26 versus 1.09 +/- 0.16 [p < 0.001]) except PSV (7.11 +/- 1.55 versus 7.14 +/- 0.81 cm/s [p > 0.05]). CONCLUSION: Based on our findings, we suggest that renal circulation is not negatively influenced by intrauterine growth restriction in SGA neonates compared with AGA newborns.

Early postnatal changes in superior mesenteric artery blood flow velocity in healthy term infants.

OBJECTIVES: After birth, the newborn intestinal circulation undergoes physiological changes. The purpose of this work was to characterize the changes in mesenteric blood flow velocity occuring during the first three days of life in healthy term infants. METHODS: 30 healthy term newborns were studied repeatedly at the age of 2, 24 and 70 hours. Blood flow velocity in superior mesenteric artery (SMA) was measured by Doppler ultrasound, peak systolic velocity (PSV), end-diastolic velocity (EDV) and time-averaged mean velocity (TAV) were recorded at each time point. Resistance index (RI) and pulsatility index (PI) were calculated. RESULTS: SMA EDV increased from 2 h [-5.2+/-6.8 cm/s (mean +/- SD)] to 24 h (12.9+/-3.8 cm/s, p<0.001) with further insignificant increase to 70 h (14.9+/-4.7 cm/s). At 2 h of age the mean EDV was negative in 23 of 30 cases (76.7%). PSV did not change between 2 h (58.0+/-21.8 cm/s) and 24 h (58.5+/-15.0 cm/s) but it increased to 70 h (79.6+/-17.7 cm/s). TAV showed a significant increase with time. RI decreased from 2 h (1.09+/-0.11) to 24 h (0.78+/-0.06, p<0.001) with further insignificant increase to 70 h (0.81+/-0.06). CONCLUSIONS: The blood flow velocity in SMA increases during the early neonatal period in term infants. The most remarkable changes occur within the first 24 hours of life. At 2 h of age a reversed blood flow is present in majority of infants.

Postnatal penicillin prophylaxis of early-onset group B streptococcal infection in term newborns. A preliminary study.

BACKGROUND: Early-onset group B Streptococcal disease (EOGBSD) is a serious but preventable neonatal infection. Maternal intrapartum antibiotic prophylaxis (IAP) does not prevent all cases of the disease. Management of asymptomatic neonates of GBS colonized mothers is problematic. AIMS: The objective of this prospective study was to determine whether administration of intramuscular penicillin at birth to a strictly defined group of term newborns of GBS colonized mothers is an effective and safe method to prevent EOGBSD. METHODS: A protocol for management of full-term infants born to GBS colonized mothers was created. Either an abnormality of blood count or presence of more than one obstetric risk factor were chosen as the indication criteria for administering postnatal antibiotic prophylaxis (PAP). RESULTS: The study sample consists of 250 newborns (11.5% of all term infants). PAP was administered in 39 cases. Indication criteria included leucocytosis in 37 cases, leucopenia in 1 case and obstetric risk factors in 1 case. There was no case of clinically manifest infection, and no case of sepsis either suspect or proven. CONCLUSIONS: The authors suggest that the strategy of selective PAP using penicillin, may be an effective and safe method in order to reduce morbidity and mortality from streptococcal infections. They recommend a combination of IAP and selective PAP.

Evaluation of transcutaneous bilirubinometry in preterm infants of gestational age 32-34 weeks.

AIMS: The aim of this prospective study was to evaluate the accuracy of transcutaneous bilirubinometry using the Minolta Air-Shields JM-103 device in preterm newborns of gestational age 32-34 weeks, and to identify the most appropriate measurement site. METHODS: Transcutaneous bilirubin (TcB) measurements were performed over forehead, sternum and abdomen, if total serum bilirubin (TSB) had to be determined on clinical indication in neonates of selected gestational age. TSB levels were measured in a clinical laboratory using direct spectrophotometry. In order to assess transcutaneous bilirubinometry accuracy, differences between TSB and TcB, their CI 95%, and correlation coefficients (r) between TcB and TSB were evaluated. RESULTS: The study group consisted of 44 infants, including 6 very low birth weight (VLBW) neonates. The correlations between transcutaneous and laboratory values were found to be significant and close. Minimal differences were observed when measured over sternum. The measurements over forehead had a tendency to underestimate TSB levels. CONCLUSIONS: Noninvasive measurement by Minolta JM-103 demonstrated significant accuracy. The authors recommend measurements over sternum or abdomen in premature infants born within 32-34 gestational weeks as a reliable and accurate neonatal hyperbilirubinemia screening test. Transcutaneous bilirubinometry has the potential to reduce the number of blood samplings, thus reducing neonatal pain and discomfort, parental distress and medical care cost.

Measurement of the blood flow velocity in the pericallosal artery of children with hydrocephalus by transcranial Doppler ultrasonography--preliminary results.

AIM: The goal of this study was to evaluate selected parameters of the Doppler curve of the pericallosal artery at children with hydrocephalus. METHODS: 12 patients with hydrocephalus were divided into two groups. Group 1 comprised children needing cerebrospinal fluid drainage, and group 2 comprised children without any indication for drainage or with an already inserted well-functioning drainage system. Dilatation of the cerebral ventricles was determined by transcranial ultrasonography. Following parameters of a blood flow of the pericallosal branch of the anterior cerebral artery: peak systolic blood flow velocity (PSFV), end-diastolic blood flow velocity (EDFV) and resistive index (RI) were observed by transcranial Doppler ultrasonography. Parameters of The Doppler curve were measured without pressure (baseline parameters) and during compression of the anterior fontanelle (pressure provocation test). RESULTS: Group 1: baseline parameters: PSFV 68.9 +/- 13.52 cm/s, EDFV 18.26 +/- 10.39 cm/s, RI 0.76 +/- 0.12; parameters during pressure provocation test: PSFV 66.92 +/- 19.75 cm/s, EDFV 10.88 +/- 11.18 cm/s, RI 0.86 +/- 0.14. Group 2: baseline parameters: PSFV 59.95 +/- 19.38 cm/s, EDFV 20.65 +/- 8 cm/s, RI 0.65 +/- 0.04; parameters during the pressure provocation test: PSFV 57.14 +/- 18.91 cm/s, EDFV 17.7 +/- 8.3 cm/s, RI 0.68 +/- 0.05. CONCLUSION: The results show increased baseline and postcompressive values of RI of pericallosal artery in infants with hydrocephalus before drainage procedure and normal values of RI at children without the need for cerebrospinal fluid drainage or with a well-functioning drainage system.

Comparison of Doppler parameters of central versus intraparenchymal renal arteries in physiologically normal newborns.

BACKGROUND: Changes in renal arterial Doppler flow may identify parenchymal disease, but in newborns knowledge of normal physiological parameters is a prerequisite for correct interpretation. OBJECTIVE: To evaluate renal blood flow in healthy newborns by means of Doppler US. MATERIALS AND METHODS: On the fourth day of life we examined 100 normal term newborn infants (200 kidneys). Blood flow in the central renal arteries was compared with that in the intraparenchymal arteries. Maximum systolic velocity ( V(max)), end-diastolic velocity ( V(ed)), mean flow velocity ( V(mean)), resistive index (RI) and pulsatility index (PI) were assessed. RESULTS: All parameters were significantly higher in the central renal arteries than in the intraparenchymal arteries (RI 0.78+/-0.07 vs 0.62+/-0.05, P<0.0001; PI 1.84+/-0.52 vs 1.09+/-0.18, P<0.0001). CONCLUSIONS: Physiological data are presented that are necessary for the correct interpretation of neonatal Doppler US.