Demet Terek

Neonatal status epilepticus controlled with levetiracetam at Sturge Weber syndrome.

Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous syndrome characterized by facial cutaneous vascular malformation, leptomeningeal angioma and eye abnormalities. Seizures develop during the first year of life, may become refractory to multiple anticonvulsants and status epilepticus may develop. A rare subtype of Sturge-Weber syndrome with bilateral facial vascular malformation, unilateral cerebral involvement and neonatal status epilepticus is reported here. Neonatal status epilepticus was successfully controlled with intravenous levetiracetam infusion.

Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia

Non‐ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder of glycine metabolism. We report a newborn case of NKH and discuss the effects of this rare disease on brain metabolism and structure together with amplitude‐integrated electroencephalography, cranial magnetic resonance and magnetic resonance spectroscopy findings which are very rarely reported together so far.

Effects of Two Different Exogenous Surfactant Preparations on Serial Peripheral Perfusion Index and Tissue Carbon Monoxide Measurements in Preterm Infants with Severe Respiratory Distress Syndrome

BACKGROUND Administration of an exogenous surfactant may affect both ventilatory and hemodynamic parameters in preterm infants with respiratory distress syndrome (RDS). Peripheral perfusion may be expected to be influenced, and serial perfusion index (PI) values may show this effect. Noninvasive transcutaneous carbon monoxide (TCO) monitoring may show RDS severity, oxidative and inflammatory stress, and response to surfactant treatment. METHODS This randomized controlled nonblinded study was performed in 30 preterm infants with RDS, treated with poractant alfa (n = 15) or beractant (n = 15); 18 preterm infants without RDS served as a control group. Oxygenation and hemodynamic parameters were recorded and compared through the first 6 hours of treatment. PI and TCO values were measured prior to (Tp), immediately after (T0), and at 5 minutes (T5), 30 minutes (T30), 60 minutes (T60), and 360 minutes (T360) after the bolus surfactant administration. The mean arterial pressure, oxygenation index, pH, and lactate levels were recorded simultaneously. RESULTS Both study groups had lower Tp PI and higher Tp TCO levels than controls. Both surfactant preparations improved the PI, TCO, mean arterial pressure, oxygenation index, pH, and lactate levels at the end point of T360. However, the median Tp PI value of 1.3 first decreased to 0.86 at T0 (P < 0.001), and then it increased to 0.99 at T5 (p < 0.001) and to 1.25 at T30 (p = 0.037). The median Tp TCO value of 3 decreased to 2, 1.5, 0, and 0 at T0, T5, T30, and T60, respectively (p < 0.001). PI more quickly recovered to Tp values (30 minutes vs. 60 minutes) and reached the control group values (30 minutes vs. 360 minutes) with beractant compared to that with poractant alfa. TCO recovered to Tp values in both groups at the same time (5 minutes vs. 5 minutes), but reached the control group values more quickly (5 minutes vs. 30 minutes) with poractant alfa than with beractant. CONCLUSION Patients with RDS had poor perfusion, and PI improved with both surfactant preparations only following a short decline in the 1(st) minute. The expected improvement of PI occurred earlier in the beractant subgroup. TCO declined in both groups, showing lung improvement and decreased oxidative/inflammatory stress, and it was normalized earlier with poractant alfa.

Massive pericardial effusion due to intrapericardial mixed germ cell tumor in a premature baby.

Primary cardiac tumor is uncommon in childhood, with an incidence of 0.06–0.32%, and intrapericardial teratoma represents an exceptional rarity among these entities. Germ cell tumors (GCT) are rare, representing only 1–3% of childhood tumors. Twenty per cent of GCT are malignant and are associated with age and location. Extragonadal involvement accounts for nearly half of the cases. Anterior mediastinum is a common location of malignant germ cell tumors, yet pericardial and aortic adventitia involvement have been rarely reported. Here we report the case of a preterm twin baby boy with intrapericardial mixed germ cell tumor who presented with hydrops fetalis and pericardial effusion.

Diagnostic tools of early brain disturbances in an asymptomatic neonate with maple syrup urine disease.

Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Routine screening of newborn with tandem mass spectroscopy on the third day of life may detect elevated branched-chain amino acids in blood before the appearance of encephalopathic symptoms in MSUD cases. If undiagnosed by such a routine screening test, patients often present with encephalopathy and seizures. Clinical neurologic examination is supplemented by electroencephalography and imaging. Here, we report abnormal amplitude-integrated electroencephalography, electroencephalography, magnetic resonance imaging, and magnetic resonance imaging spectroscopy findings in a neurologically asymptomatic male newborn who was diagnosed with MSUD at the third week of life. These neurologic disturbances disappeared at the fourth month of life with appropriate special diet. Therefore, even in already asymptomatic cases, early neurologic deterioration of brain metabolism and structure can be detected with these early laboratory findings, indicating the importance of early diagnosis and management. Patients may also benefit from these investigations during the follow-up period.

The Change of Perinatal Mortality Over Three Decades in a Reference Centre in the Aegean Region: Neonatal Mortality has decreased but Foetal Mortality Remains Unchanged

Background: Perinatal, foetal and neonatal mortality statistics are important to show the development of a health care system in a country. However, in our country there are very few national and regional data about the changing pattern of perinatal neonatal mortality along with the development of new technologies in this area. Aims: Evaluation of the changes in mortality rates and the causes of perinatal and neonatal deaths within years in a perinatal reference centre which serves a high-risk population. Study Design: Cross-sectional retrospective study. Methods: The perinatal, neonatal and foetal mortality rates in the years 1979-1980 (1st time point) and 1988-1989 (2nd time point) were compared with the year 2008 (3rd time point). The causes of mortality were assessed by Wigglesworth classification and death reports. The neonatal mortality in the neonatal intensive care unit was also calculated. Results: Foetal mortality rates were 44/1000, 31.4/1000 and 41.75/1000 births, perinatal mortality rates were 35.6/1000, 18.8/1000 and 9/1000 births, and neonatal mortality rates were 35.6/1000, 18.8/1000 and 9/1000 live births for the three study time points, respectively. The mortality rate in neonatal intensive care unit decreased consistently from 33%, to 22.6% and 10%, respectively, together with decreasing neonatal mortality rates. The causes of perinatal deaths were foetal death 85%, immaturity 4%, and lethal congenital malformations 8% according to Wigglesworth classification in 2008, showing the high impact of foetal deaths on this high perinatal mortality rate. Infectious causes of neonatal deaths decreased but congenital anomalies increased in the last decades. Conclusion: Although neonatal mortality rate decreased significantly; foetal mortality rate has stayed unchanged since the late eighties. In order to decrease foetal and perinatal mortality rates more efficiently, reducing consanguineous marriages and providing better antenatal care for high risk pregnancies are needed.

25 Can Low Perfusion Index Predict the Treatment Need in Premature Infants with Patent Ductus Arteriosus

Background and aims Perfusion index (PI) shows real time changes in peripheric blood flow. Among critically ill infants, it predicts poor perfusion and the severity of the disease. Early diagnosis and treatment of PDA is important to prevent complications due hemodynamically significant patent ductus arteriosus (PDA). In this study, we aimed to compare the PI values of premature infants with and without hemodynamically significant PDA. Methods Forty one premature infants were evaluated with echocardiography at the postnatal days 0 and 3. Patients were grouped as: Group 1 (n=19): no - PDA; Group 2 (n=10) hemodynamically nonsignificant PDA; Group 3 (n=12) hemodynamically significant PDA. PI was measured during a quiet state at the postnatal days 0, 1, 2 and 3 by Masimo pulse oximeter. Clinical characteristics of the infants were recorded prospectively. Results All the study groups were similar with regard to birth weight (1473±51 grams) and gestational age (30±2.9 weeks). Group 3 had significantly lower day 0 PI values compared to Group 1 and 2 (p=0.008). PI values of Group 3 increased after ibuprofen treatment and became similar to Group 1 and 2 after PDA closure on the postnatal days 2 and 3. Conclusion PI values of infants with hemodynamically significant PDA were lower at postnatal day 0 and with ibuprofen treatment; PI values increased to levels of infants without significant PDA. Our data show that PI is an early and noninvasive parameter predicting poor perfusion and may be helpful in decision making for PDA closure.

Reference values of anthropometric measurements in healthy late preterm and term infants

Background/aim Geographical distribution, ethnicity, and other socioeconomic factors may affect anthropometric measurements, and for that reason each society should determine their own measurements accounting for those factors. In this study, we aimed to determine the anthropometric measurements of healthy late preterm and term infants to compare the results with other national and international studies. Materials and methods This sectional study was carried out among 1197 infants born with a gestational age of ≥35 weeks. Chest circumference, ear length, foot length, palmar length, middle finger length, philtrum distance, inner and outer canthal distances, and palpebral fissure length were measured in the first 24 h of life. Results All measurements of late preterm infants were smaller than those of term infants (P ˂ 0.05). Compared with male infants, the chest circumference, ear length, foot length, palmar length, philtrum distance, and inner canthal distances of the female infants were lower (P ˂ 0.05). No significant differences were found between male and female infants’ middle finger length, outer canthal distance, and palpebral fissure length measurements. Percentile values for all measurements of 35–42-week male and female infants were described. Conclusion These measurements of male and female infants born between 35 and 42 weeks may be useful for early detection of syndromes by detecting anatomical abnormalities in our population.

Vitamin D Deficiency in Premature Infants and Its Effects on Neonatal Prognosis

37 ©Copyright 2018 by Ege University Faculty of Medicine, Department of Pediatrics and Ege Children’s Foundation The Journal of Pediatric Research, published by Galenos Publishing House. Ad dress for Cor res pon den ce Demet Terek MD, Ege University Faculty fo Medicine, Department of Pediatrics, Division of Neonatology, İzmir, Turkey Phone: +90 530 692 57 99 E-mail: demet.terek@yahoo.com ORCID ID: orcid.org/0000-0002-0970-6582 Re cei ved: 12.10.2017 Ac cep ted: 05.12.2017 Ege University Faculty fo Medicine, Department of Pediatrics, Division of Neonatology, İzmir, Turkey Demet Terek, Gizem Özcan, Fırat Ergin, Özge Altun Köroğlu, Mehmet Yalaz, Mete Akisu, Nilgün Kültürsay

Nonketotic Hyperglycinemia in the Neonatal Period: Clinical Features, Diagnosis and Treatment

Nonketotic hyperglycinemia, is a recessively inherited autosomal disorder of the amino acid metabolism caused by a deficiency in the mitochondrial glycine cleavage system. Neonatal type is the most common form. Infants are usually normal at birth and clinical manifestations such as severe hypotonia, poor feeding, seizures, and lethargy progressing rapidly to a deep coma are seen during the first few days of life. Majority of the affected infants die during the first weeks of life. Those who survive develop severe neurological sequelae. The aim of this case series is to evaluate the clinical features, treatment approaches and short term prognosis of the infants diagnosed with neonatal nonketotic hyperglycinemia during the last 5 years in our department. Data were collected retrospectively from patients’ files whose postnatal age at diagnosis varied between 2 to 14 days. All patients were admitted with failure to suck and lethargy, and all had severe hypotonia and decreased newborn reflexes on physical examination. Four patients developed resistant myoclonic seizures and deep apnea requiring mechanical ventilation support. In all patients diagnosis was made based on high plasma and cerebrospinal fluid glycine levels. Genetic study could be performed in only one patient. However enzymatic analysis could not be performed in any patient. All patients demonstrated pathological neuroimaging results, and electroencephalographic abnormalities including multifocal epileptiform abnormalities and “burst supression” patterns in four patients. All patients received low protein diet and drugs reducing plasma glycine levels. Treatment-refractory seizures could only be controlled by levetiracetam in four patients. While two patients died during follow-up, and remaining three patients survived with severe neurological sequels. Physicians should consider nonketotic hyperglycinemia in differential diagnosis in our country where consanguineous marriages are frequent, especially when a newborn healthy for a certain time period develops severe hypotonia, resistant seizures and encephalopathy as detected with routine laboratory tests performed during followup period.