PURPOSE: Recently, legal disputes resulting from medical accidents have been increasing annually. The purpose of this study is to determine the causes and characteristics of medical disputes brought as a result of neonatal accidents and to suggest measures to reduce the number of medical malpractice suits. METHODS: Twenty-eight medical malpractice lawsuits brought as a result of neonatal accidents between 2005 and 2009 were analyzed. RESULTS: The average time taken to resolve these lawsuits was approximately 4.4 years. The average gestational age and birth weight of the newborns in these cases were 35.3+/-4.2 weeks and 2,668+/-931 g, respectively. Twelve cases (42.9%) were concluded partially in favor of the plaintiffs, while in 10 (35.7%) cases the plaintiffs lost. In 11 of the 12 cases that were concluded partially in favor of the plaintiffs, the defendants were found guilty of violating their duty of care. Medical accidents resulted in death in 10 cases and physical disability in 18 cases, and cerebral palsy and blindness were the most common physical disabilities. The average compensation amount ordered as damages was KRW 161,389,291+/-12,636,454. CONCLUSION: In medical litigation, the standard of judgment is whether appropriate medical practices were performed based on the patient's symptoms. Thus, to comply with the medical treatment rules is paramount in securing patients' safety and protecting doctors themselves. Individual effort is necessary, but not sufficient to prevent medical accidents; multilateral, systemic reform is also required if the number of neonatal medical accidents is to be reduced.
Birth Weight ; Blindness ; Cerebral Palsy ; Compensation and Redress ; Dissent and Disputes ; Gestational Age ; Humans ; Infant, Newborn* ; Judgment ; Jurisprudence* ; Malpractice ; Patient Safety

X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications in cartilages, leading to short stature and facial and limb anomalies. These clinical features are frequently observed in all types of chondrodysplasia punctata and have also been seen in other cartilage developmental disorders. Because of the phenotypical similarities, specific testing for only one gene is inefficient and time consuming. The advent of next-generation sequencing has provided an opportunity to improve diagnostic accuracy as well as save on time and cost. Here, we report on a patient diagnosed with CDPX1, who was identified via diagnostic exome sequencing to have a novel nonsense mutation in the ARSE gene, that was inherited from the mother.
Cartilage ; Chondrodysplasia Punctata* ; Codon, Nonsense* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Exome ; Extremities ; Humans ; Mothers

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 heterotopia 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 compound 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 previously in reports suggesting other unclassified forms of CMD.
Biopsy ; Brain ; Child ; Classical Lissencephalies and Subcortical Band Heterotopias ; Classification ; Creatine Kinase ; Humans ; Infant, Newborn ; Laminin ; Magnetic Resonance Imaging ; Muscle Hypotonia ; Muscular Dystrophies* ; Occipital Lobe ; Polymicrogyria* ; Walker-Warburg Syndrome

Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological 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 mutation-associated 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 associated with thrombophilic activity, and conditions during gestation may have affected the patient's condition.
Cerebral Infarction ; Folic Acid ; Humans ; Infant, Newborn ; Methylenetetrahydrofolate Reductase (NADPH2) ; Mothers ; Pregnancy ; Rare Diseases ; Seizures ; Stroke ; Thrombosis* ; Vascular Diseases

Twin anemia-polycythemia sequence (TAPS) is characterized by the transfer of blood via intertwin vascular anastomoses in a single placenta. It differs from twin-twin transfusion syndrome (TTTS) in that amniotic fluid levels remain normal during pregnancy. Since the concept of TAPS was first introduced in 2007, some cases have been reported abroad, but no such a case has been reported in Korea. Here, we report the first case of spontaneous TAPS in Korea.
Amniotic Fluid ; Female ; Humans ; Korea ; Placenta ; Pregnancy ; Twins*

Peritoneal dialysis can be considered renal supportive therapy, even in an extremely low birth weight infant with acute kidney injury not responding to general supportive measures. Although there have been several reports of successful peritoneal dialysis in extremely low birth weight infants, general practice guidelines and commercially available optimal peritoneal dialysis catheters have not been introduced. We report a successful case of peritoneal dialysis in an extremely low birth weight infant born at 25 weeks gestational age, with birth weight 790 g, with uncontrollable metabolic acidosis, hyperkalemia, progressive azotemia and continued anuria.
Acidosis ; Acute Kidney Injury ; Anuria ; Azotemia ; Birth Weight ; Catheters ; General Practice ; Gestational Age ; Humans ; Hyperkalemia ; Infant ; Infant, Extremely Low Birth Weight ; Infant, Extremely Premature* ; Infant, Low Birth Weight ; Infant, Newborn ; Peritoneal Dialysis*

PURPOSE: As the incidence of bronchopulmonary dysplasia (BPD) has increased, it is important to understand the clinical outcomes of BPD patients discharged from neonatal intensive care units (NICU). The purpose of our study was to describe the characteristics of BPD patients who are re-hospitalized in a pediatric intensive care unit (PICU) and to evaluate the prognostic outcome factors. METHODS: We retrospectively reviewed the medical records of BPD patients who were admitted to our PICU between May 2006 and November 2014. In total, we identified 101 cases which were divided into two groups, group 1, those who required intensive care for an acute illness or disease aggravation (n=62), and group 2, those who were admitted for post-operative care unrelated to having BPD as a control group (n=39). We subsequently compared the characteristics. RESULTS: Most patients in group 1 were aged less than 1 year, with weight below the 3rd percentile for age at the time of their PICU admission. The main cause for their admission was respiratory failure, requiring mechanical ventilation. When comparing the two groups, group 1 showed higher gestational age at birth, and a longer duration of mechanical ventilation, oxygen support, and NICU hospitalization than group 2. However, we failed to identify any factor significantly associated with the duration of the PICU stay, hospital stay, and mortality. Further large-scale, long-term follow-up studies will be necessary. CONCLUSION: As the majority of patients are admitted to PICU because of respiratory symptoms during their infantile period, careful follow-up with supportive care and prevention of respiratory infection are required.
Bronchopulmonary Dysplasia* ; Critical Care* ; Follow-Up Studies ; Gestational Age ; Hospitalization ; Humans ; Incidence ; Infant, Newborn ; Intensive Care Units* ; Intensive Care Units, Neonatal ; Length of Stay ; Medical Records ; Mortality ; Oxygen ; Parturition ; Respiration, Artificial ; Respiratory Insufficiency ; Retrospective Studies

PURPOSE: Vitamin D deficiency is still common in pregnant women and infants, especially preterm infants. This study evaluated the prevalence, characteristics, and prenatal and postnatal complications associated with vitamin D deficiency in preterm infants. METHODS: Preterm infants (gestational age of <32 weeks, delivered between January 2014 and December 2014) were divided into two groups according to umbilical cord blood 25-hydroxyvitamin D concentrations (deficiency group, <20 ng/mL; non-deficiency group, ≥20 ng/mL), and associated factors were evaluated. RESULTS: The mean concentration of 25-hydroxyvitamin D in the preterm infants was 14.3±9.7 ng/mL. 80% (78 out of 98) of subjects had vitamin D deficiency (<20 ng/mL), and 45% (44 out of 98) of preterm infants had a severe vitamin D deficiency (<10 ng/mL). No seasonal variation was observed in 25-hydroxyvitamin D concentration. Mean gestational age and birth weight were lower in the deficiency group. The serum calcium and alkaline phosphatase (ALP) concentrations, which reflect bone metabolism, were significantly different between the two groups, but not the serum phosphorous concentrations. Maternal prenatal complications and infant complications were not significantly different between the two groups. CONCLUSION: The prevalence of vitamin D deficiency is high, and it is a persistent problem among Korean mothers and their newborn infants, especially preterm infants. Thus, it is important to prevent vitamin D deficiency by early detection of the deficiency and supplementation of vitamin D.
Alkaline Phosphatase ; Birth Weight ; Calcium ; Female ; Fetal Blood ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Metabolism ; Mothers ; Pregnant Women ; Prevalence ; Seasons ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

PURPOSE: To review clinical symptoms, laboratory findings, and treatment of transient neonatal hypocalcemia. METHODS: Medical records of full-term (gestational age ≥37 weeks) neonates diagnosed with hypocalcemia, aged <31 days, were investigated retrospectively. Using a cut-off of 3 days after birth, cases of neonatal hypocalcemia were classified as early or late. Hypocalcemia was defined as ionized calcium level <4 mg/dL or serum calcium level <7.5 mg/dL. Hyperphosphatemia was defined as serum phosphate level >8 mg/dL. Relative hypoparathyroidism was defined as hypocalcemia and hyperphosphatemia with parathyroid hormone level within the normal range (10–65 pg/mL). RESULTS: Of 68 included neonates, 62 were diagnosed with hypoparathyroidism with hypocalcemia and hyperphosphatemia, and 26 had seizures. Mean serum calcium level of the seizure group was 5.99 mg/dL, which was significantly lower than that of the non-seizure group (6.46 mg/dL, P=0.012). The recovery duration for calcium and phosphate levels was long, at 5.8 and 10.7 days, respectively. The calcium level recovery duration was significantly different between the seizure and non-seizure groups (P=0.034), but the phosphate level recovery period was not significantly different (P=0.194). Of 17 patients with diarrhea, 10 had confirmed rotavirus infection. Most patients with hypocalcemia responded well to oral calcium lactate and intravenous calcium gluconate, and the treatments could be discontinued after a certain period. CONCLUSION: Transient neonatal hypocalcemia is associated with hypoparathyroidism. The major symptom in late neonatal hypocalcemia was the occurrence of seizures. Serum calcium level was lower and the recovery period was longer in the seizure group, but most cases exhibited favorable progress.
Calcium ; Calcium Gluconate ; Diarrhea ; Humans ; Hyperphosphatemia ; Hypocalcemia* ; Hypoparathyroidism ; Infant, Newborn* ; Lactic Acid ; Medical Records ; Parathyroid Hormone ; Parturition ; Reference Values ; Retrospective Studies ; Rotavirus Infections ; Seizures

PURPOSE: Nephrocalcinosis (NC) is frequently observed in premature infants. Small-scale 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??-35?²) weeks and 1,120 (range: 560-1,950) g, respectively. NC was diagnosed an average of 26.4±2.8 (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.
Birth Weight ; Citric Acid ; Diagnosis ; Follow-Up Studies ; Gestational Age ; Humans ; Hyperoxaluria ; Infant ; Infant, Newborn* ; Infant, Premature ; Intensive Care, Neonatal ; Korea* ; Nephrocalcinosis* ; Nephrolithiasis ; Observational Study ; Outpatients ; Parenteral Nutrition, Total ; Parturition ; Prognosis* ; Prospective Studies ; Risk Factors