Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD) treatments were applied due to the failure to keep hyperammonemia and lactic acidosis under control. Ammonia values increasing to 860 µmol/L were observed. A homozygous novel variant was detected in PC gene analyses containing a 12-base pair deletion on exon 8. Although the mutation found was not reported previously, it was accepted as a pathogenic variant due to its presence in a functional region of the protein. In type B PC deficiency, although a high level of ammonia is expected, it rarely exceeds 200 µmol/L. As far as we know, the present case has the highest ammonia values in the literature. This paper has been shared to highlight to keep PC deficiency in mind regarding the differential diagnosis of hyperammonemia, particularly in the presence of lactic acidosis, and to serve as a model for the use of different modalities in the management process of PC deficiency.

Comparison of neonatal transport scoring systems and transport-related mortality score for predicting neonatal mortality risk.

OBJECTIVES: To predict the risk of mortality of neonates, birth weight and gestational age were previously used. However, these criteria were considered inadequate; therefore, various scoring systems have been developed in the recent years. The aim of the study was to evaluate the performance of predicting mortality by Mortality Index for Neonatal Transportation (MINT), Score for Neonatal Acute Physiology-Perinatal Extension II (SNAP-PE-II), and Transport Related Mortality Score (TREMS). METHODS: All infants transferred to the neonatal intensive care unit between January 1 and December 31, 2011, were included. The scores of SNAP-PE-II, MINT, and TREMS of the all cases were calculated. TREMS is our proposed scoring system and it consists of 5 variables (hypoglycemia, hypoxia, hypercarbia, hypotension, and hypothermia). The scoring systems, SNAP-PE-II, MINT, and TREMS, were compared in terms of mortality risk. RESULTS: A total of 306 newborn infants constituted the study population. The mean gestational age was 33.1 ± 5 weeks and the mean birth weight was 2031.2 ± 1018 g, and 183 (59%) babies were male. The sensitivity of MINT score for predicting mortality was higher than SNAP-PE-II and TREMS. However, specificity was higher in TREMS score. The negative predictive value was highest in MINT score, whereas TREMS has the highest positive predictive value. CONCLUSIONS: The TREMS scoring system is a simple scoring system with a high specificity for predicting mortality. Further studies with larger sample size including more centers and newborn infants with diverse clinical problems are needed to assess the validity and reliability of the TREMS scoring system.

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.

Interrupter resistance changes in children with bronchiolitis.

INTRODUCTION: Determination of lung function in children younger than three years with bronchiolitis may aid in treatment; however, technical difficulties such as requirement of sedation and lack in standardization limit clinical use. OBJECTIVES: Aim of this study was to evaluate lung function changes using the interrupter technique in unsedated wheezing children younger than 3 years during and after acute bronchiolitis. METHODS: Children with acute bronchiolitis younger than three years age were enrolled in this cohort study. Number of previous bronchiolitis episodes, severity of pulmonary findings, duration of acute bronchiolitis findings before presentation, requirement for hospitalization were recorded during initial enrollment. Duration of the current bronchiolitis was recorded. Interrupter resistance (Rint) measurements were performed on all children during and after bronchiolitis, using a face mask. RESULTS: Mean (+/-SD) age of the children enrolled was 9.4 +/- 2.9 months. Mean bronchiolitis score was 5.6 +/- 1.4 at presentation. Mean duration of acute bronchiolitis before and after presentation were 10.1 +/- 13.0 and 5.1 +/- 2.3 days, respectively. There was a significant decrease in expiratory Rint values after clinical bronchiolitis findings terminated [1.08 (0.45) vs. 0.80 (0.33) kPa.L-1.s, p = 0.009]. Flow had not changed significantly while mouth pressure had decreased (p = 0.96 and p = 0.01, respectively). CONCLUSION: Interrupter technique measurements showed higher resistance during acute bronchiolitis in children, which decreased after acute findings, disappeared. Rint may be used as a method to detect the change in airway function in unsedated children younger than three years in ambulatory conditions, despite some limitations of standardization in this age group.

Metabolic and demographic characteristics of children with urolithiasis in Western Turkey.

Pediatric urolithiasis is an endemic disease in Turkey. We evaluated the clinical, radiological and metabolic features of children with urolithiasis in Western Turkey. We retrospectively reviewed the records of 85 children with urolithiasis who were followed-up between 2004 and 2010 in Pediatric Nephrology Department of Celal Bayar University, Manisa. The male/female ratio was 1.23/1. The mean age at diagnosis was 66.1 months (range 3-210 months). Family history of urolithiasis was found in 58 (68.2%) patients. 23 (27%) patients were born from consanguineous marriages. Stones were located in the upper urinary tract in 79 (92.9%) patients. In 66 (77.6%) patients, stones were single-sided and 41 (48.2%) patients had multiple stones. Calcium oxalate stones were the most common one among patients in whom stone analysis was performed (78.5%). Hypocitraturia was the most commonly detected urinary metabolic risk factor. In patients who were under 12 months of age at diagnosis, hypercalciuria was the most commonly seen urinary metabolic risk factor. At the end of follow-up period, 24 patients became free of stone disease and 4 patients had recurrence. In conclusion, metabolic abnormalities are common in pediatric stone patients and are strongly associated with recurrence. Considering that urolithiasis in children is an important risk factor for renal failure, early diagnosis, detailed metabolic evaluation and implementing appropriate treatment and follow-up protocols may prevent recurrence and renal damage.