Purpose: Nephrocalcinosis (NC) is frequently observed in premature infants. Smallscale studies have suggested that NC adversely affects renal function; however, the etiologic factors are still unclear. This prospective observational study aimed to identify the factors that influence the development of NC, through urine analysis. Methods: In total, 99 preterm infants (gestational age <34 weeks) diagnosed with NC in the neonatal intensive care unit (NICU) from October 2010 to March 2014 were evaluated. Data regarding perinatal characteristics, respiratory support, total parenteral nutrition (TPN), and use of nephrotoxic drugs were analyzed. After an ultrasonographic diagnosis of NC, the infants were subjected to biweekly urine tests along with ultrasonographic follow-ups until the resolution of NC, in the outpatient department. Results: NC was diagnosed in 23% (99/432) of the preterm infants admitted to the NICU. Their median gestational age and birth weight were 28 +3 (range:23 +5 -35 +2 ) weeks and 1,120 (range: 560-1,950) g, respectively. NC was diagnosed an average of 26.42.8 (range: 2-82) days after birth, and the corrected gestational age at that time was 32.4 2.0 weeks. Preterm infants with NC had hyperoxaluria (oxalate/Cr=4.1 [oxalate/Cr< 0.3]), and low urinary citrate levels (citrate/Cr=0.03 [citrate/Cr>0.51]). The follow-up rate was 52% (27/52) and symptoms in none of the infants had progressed to nephrolithiasis. In the infants that were followed up, NC was resolved at a mean age of 7.7 (range: 2-32) months. Conclusion: Our results suggest that hyperoxaluria is a significant risk factor for the development of NC.

This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and discusses the spectrum of brain involvement in MDCMD.A neonate presented hypotonia, increased serum creatine kinase levels, and polymicrogyria and subcortical hete rotopia on brain MRI involving both posterior temporal and occipital lobes.Although these findings suggested Fukuyama muscular dystrophy, muscle biopsy showed dystrophic changes and an absence of merosin staining.We found that com pound heterozygous mutation for c.2049_2050delAG (p.R683fs) and c.5866-2A>G in the LAMA2 gene which encodes Laminin-α2.To our knowledge, this is the second Korean case of MDCMD with polymicrogyria and subcortical heterotopias.This case shows that a range of brain structural malformations can be found in children with MDCMD and that the classification of congenital muscular dystrophy (CMD) is not complete yet, as indicated pre viously in reports suggesting other unclassified forms of CMD.

Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neu­ rological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutation­associated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A1298C (1298AC) mutations. Analysis of MTHFR in the patient's mother did not detect a C677T (677CC) mutation but detected a homozygous A1298C (1298CC) mutation. Our results suggest that the presence of heterozygous MTHFR C677T and A1298C mutations affect thrombophilic activity in the neonate, resulting in the development of refractory seizure and CSVT. Moreover, presence of the homozygous MTHFR A1298C mutation in the patient's mother, who did not show any symptoms associat­ ed with thrombophilic activity, and conditions during gestation may have affected the patient's condition.

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/ HCO3exchanger in the ileum and the colon. Its main features are profuse watery diarrhea, high fecal chloride concentration, and failure to thrive. Profuse watery diarrhea characterized by a high concentration of chloride in stools results in hypochloremia, hyponatremia, and dehydration with metabolic alkalosis. Early detection and therapeutic intervention can prevent life-threatening symptoms of CCD and growth failure. Recently, several therapies, such as proton pump inhibitors and butyrate, have been suggested for amelioration of diarrhea. Here, we report a case of CCD in a preterm male infant who was successfully treated with an oral proton pump inhibitor.

Purpose: Thrombocytopenia is the most common hematologic abnormality diag nos ed in the neonatal intensive care unit (NICU).We investigated the causes and neonatal outcomes of earlyonset thrombocytopenia in preterm neonates and com pared clinical outcomes between neonates in an earlyonset thrombocytopenia group who have received and those who have not received platelet transfusion in order to assess the clinical significance of earlyonset thrombocytopenia in preterm infants.Methods: We retrospectively reviewed the medical records of preterm neonates born earlier than 34 weeks' gestation who were admitted to the NICU between Ja nuary 2005 and September 2014.412 preterm neonates born earlier than 34 weeks' gestation were enrolled.The earlyonset thrombocytopenia group (n=90) had a platelet count ≤150,000/mL within the first 72 hours of life.We investigated maternal and neonatal characteristics, and neonatal outcomes in the group and compared these with those of a control group (n=322).Results: The neonates with earlyonset thrombocytopenia tended to have lower gestational age, birth weight and Apgar scores than controls.Maternal hypertension and lower Apgar score at birth were predictive factors of earlyonset thrombocyto penia.No differences in clinical outcomes were observed between the two groups.Clinical outcomes did not significantly different between the groups regardless of whether the neonates received platelet transfusion or not. Conclusion:Earlyonset thrombocytopenia had no effect on the neonatal outcomes of the preterm infants.Platelet transfusion did not affect the clinical outcomes of the neonates in the earlyonset thrombocytopenia group.Thus, we suggest a lager con trolled study on earlyonset thrombocytopenia in newborns in order to establish moreefficient treatment guidelines.

Gastroschisis is a congenital abdominal wall defect that occurs at the immediate right of the umbilicus. Left-sided gastroschisis, which is located in the left periumbilical region, is extremely rare, as only 22 cases have been reported worldwide. Although most cases of gastroschisis are not complicated by other anomalies, extraintestinal anomalies are more commonly associated with left-sided gastroschisis than classic right-sided gastroschisis. In this report, we describe a case of left-sided gastroschisis complicated by cardiac anomalies. We also discuss the suggested theories of its pathogenesis and present a literature review. For patients with leftsided gastroschisis, we recommend evaluation of the associated anomalies because extraintestinal anomalies in the genitourinary, cardiovascular, or central nervous systems are more common in left-sided gastroschisis than in classic right-sided gastroschisis.

Purpose: To determine whether serum uric acid levels in the first 7 days of life can predict development of severe intraventricular hemorrhage (IVH) among very low birth weight (VLBW) infants. Methods: VLBW infants admitted to the neonatal intensive care unit of Asan Medical Center between January 2009 and December 2012 were selected for chart review. Infants were divided into groups with and without severe IVH (grade3). To determine whether uric acid is a predictor of severe IVH, uric acid levels on the first day (within 24 hours of birth), peak uric acid levels (during the first 7 days for infants without severe IVH, prior to IVH documentation by cranial sonogram for infants with severe IVH, and trend in uric acid levels were analyzed for both groups. Various antenatal and postnatal factors were compared between the groups, and risk factors associated with severe IVH were identified. Results: A total of 397 VLBW infants were included, with mean birth weight of 1,075 292 g and a mean gestational age of 29.63.3 weeks. Higher levels of uric acid on day 1, higher peak levels, and rising uric acid levels were all found to be associated with the development of severe IVH on univariate analysis. Multivariate analysis confirmed that rising uric acid levels predicted subsequent development of severe IVH. Other factors associated with development of severe IVH included higher sodium, higher potassium, higher PaCO 2 , higher lactic acid, and lower PaO2. Conclusion: Careful attention to uric acid levels, which are easily measured, may be useful in predicting subsequent development of severe IVH among VLBW infants.

Purpose: This study investigated the risks of development and surgical complications of meconium obstruction (MO) in very low birth weight (VLBW) infants. Methods: We performed a retrospective medical record review of VLBW infants admitted to the neonatal intensive care unit of Haeundae Paik hospital and diag­ nosed with MO of prematurity (MOP) between March 2010 and August 2013. Results: Of 267 VLBW infants admitted to the neonatal intensive care unit, 28 were diagnosed with MOP. Perinatal factors including maternal pregnancy­induced hyper­ tension and small for gestational age were associated with MOP development (P<0.05). Over two­thirds of VLBW infants with MOP were successfully treated with a gas­ trografin enema. The remaining eight VLBW infants required surgery. Although small for gestational age was more frequent in the medical treatment group, specific risk factors associated with MOP development did not affect the need for surgical inter­ vention. Conclusion: MOP is common in VLBW infants, as most VLBW infants have risk factors for MOP. Identifying risk factors permits early diagnosis and initiation of appropriate medical treatment, reducing the necessity for surgery. However, the presence of specific risk factors does not increase risk of surgical complications.