Şebnem Çalkavur

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C

Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. Case Report: Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest. Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome.

Comparison of trimethoprim-sulfamethoxazole versus ciprofloxacin monotherapy in Stenotrophomonas maltophilia bloodstream infections in children

Treatment of invasive infections caused by Stenotothromhomas maltophilia is difficult as the bacterium is frequently resistant to a wide range of commonly used antimicrobials. The aim of this retrospective study was to evaluate effectiveness of treatment with ciprofloxacin monotherapy compared to trimethoprim-sulfamethoxazole monotherapy in patients with S. maltophilia infections. We evaluated 50 patients with S. maltophilia bloodstream infections who had received monotherapy with trimethoprim-sulfamethoxazole or ciprofloxacin. Twenty-five patients (50%) received trimethoprim-sulfamethoxazole, and 25 patients (50%) received ciprofloxacin. Thirty-six (72%) patients were in the intensive care unit. All of the patients had at least one indwelling devices and approximately 25% patients had immunosuppression. Ciprofloxacin had the same clinical outcome and mortality as trimethoprim-sulfamethoxazole for the treatment of S. maltophilia bacteremia. In our study; side-effects ratio were not statistically different between ciprofloxacin and trimethoprim-sulfamethoxazole group. Ciprofloxacin could be an alternative drug of choice for treating S. maltophilia infections especially in premature infans in stead of trimethoprim-sulfamethoxazole.

Effect of unconjugated hyperbilirubinemia on neonatal autonomic functions: evaluation by heart rate variability

Abstract Background: Serum bilirubin levels beyond the physiological limits, may lead to alterations in autonomic regulation in a newborn infant. Heart rate variability (HRV), is a noninvasive and quantitative marker of the activity of the autonomic nervous system (ANS). To date, few studies have demonstrated the undesirable effects of severe unconjugated hyperbilirubinemia (UHB) on autonomic functions, and only one study has used HRV as a marker of the autonomic activity. However, the relationship between altered cardiac autonomic functions and UHB by using the HRV derived from 24-hour Holter electrocardiography (ECG) recording has not been investigated previously. Objective: We aimed to assess whether a relationship exists between severe UHB and cardiac autonomic dysfunction by evaluating HRV via 24-hour Holter ECG recording. Methods: This single-center, prospective, case-control study was conducted on 50 full-term newborn infants with severe UHB requiring phototherapy and 50 healthy infants as controls. HRV assessment was performed by using 24-hour Holter ECG recording. Results: There was no significant difference in terms of mean average heart rate, mean maximum heart rate and mean RR duration between the groups. However, mean minimum heart rate was significantly lower in the study group. When 24-hour time and frequency domain parameters were compared, time and frequency domain parameters rMSDD as well as high frequency (HF), which represent parasymphathetic activity, were significantly higher in the study group. Furthermore, low frequency to high frequency (LF/HF) ratio, that serves as an indicator of sympathovagal balance, was significantly lower in the study group. Conclusion: Severe UHB may cause cardiac autonomic dysfunction in favor of parasympathetic predominance in jaundiced neonates.

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.

A Newborn Case of “c” Subgroup Mismatch Presenting with Severe Hemolysis and Anemia

249 ©Copyright 2017 by Ege University Faculty of Medicine, Department of Pediatrics and Ege Children’s Foundation The Journal of Pediatric Research, published by Galenos Yayınevi. Ad dress for Cor res pon den ce/Ya z›fl ma Ad re si Ezgi Yangın Ergon MD, University of Health Sciences, Dr. Behçet Uz Children’s Diseases and Surgery Training and Research Hospital, Department of Neonatology, İzmir, Turkey Phone: +90 533 348 56 45 E-mail: yanginezgi@yahoo.com ORCID ID: orcid.org/0000-0003-0836-7379 Re cei ved/Ge liş ta ri hi: 02.06.2016 Ac cep ted/Ka bul ta ri hi:10.09.2016 Ağır Hemoliz ve Anemiyle Başvuran “c” Subgrup Uyuşmazlıklı Bir Yenidoğan Olgusu

İndirekt hiperbilirübinemili olgularda minör eritrosit antijenlerinin alloimmünizasyondaki rolü

Sum mary Aim: ABO/Rh incompatibilities are common causes of blood group incompatibility in newborns. On rare occasions, alloimmunization due to minor erythrocyte antigens may cause severe hemolytic disease requiring exchange transfusion. Most common minor erythrocyte antigens include non-D Rh antigens (c, C, e, E), Kell, Duffy, Kidd and MNS. In this study, we aimed to investigate minor erythrocyte antigens and their possible effects in newborns who were hospitalized for indirect hyperbilirubinemia and did not have any other detectable cause for neonatal jaundice. Material and Method: : Between July 1st 2009 and September 31st 2009, 107 newborns were enrolled to investigate the relationship between minor erythrocyte antigens and neonatal jaundice. Patients with common causes of hyperbilirubinemia such as ABO/Rh incompatibility, hypothyroidism, glucose-6-phosphate dehydrogenase deficiency, inborn errors of metabolism and sepsis were excluded. The study was approved by the ethics commite ((25.06.2006/35-2009). Minor erythrocyte antigens were studied by performing gel centrifugation method using human monoclonal antibodies. Antibodies were detected in mothers with positive antibody screening. Antigens which countered the antibodies present in the mother and which were found to be positive in the infant were considered as a cause of incompatibility. Kell, C, E,c, e antigens were investigated in all newborns regardless of their antibody screening results. Results: Minor erythrocyte incompatibility was detected in 7 out of 107 newborns (6.5%). Assessment among 230 newborns hospitalized for indirect hyperbilirubinemia revealed a rate of 3% for minor erythrocyte antigen positivity. The most common incompatibility was related to “s” antigen which was detected in 4 patients. Other antigens detected included C, Jka, S, Lub and N. Only 1 patient was found to carry Kell antigen. However his mother displayed negative antibody screening. Direct coombs positivity or severe hemolysis could not be detected in any of the patients with minor erythrocyte antigen incompatibility. Although the clinical course was similar, jaundice was realized much later in these infants when compared to other infants with indirect hyperbilirubinemia. Conclusions: Currently minor erythrocyte antigens are not being investigated routinely in neonatal jaundice. However, clinicians should keep in mind that minor erythrocyte antigens can cause indirect hyperbilirubinemia and sometimes severe hemolytic disease. Therefore they should remember to study these antigens in newborns with pathologic jaundice. (Turk Arch Ped 2013; 48: 23-29)