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Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata.

Jin Woong DOO ; Ja Hyun JANG ; Eun Hae CHO ; Jin Kyu KIM ; Soo Chul CHO

Neonatal Medicine.2016;23(3):178-182. doi:10.5385/nm.2016.23.3.178

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

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Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report.

Young Mi HAN ; Na Rae LEE ; Mi Hye BAE ; Kyung Hee PARK ; Jin Hong SHIN ; Dae Seong KIM ; Shin Yun BYUN

Neonatal Medicine.2016;23(3):173-177. doi:10.5385/nm.2016.23.3.173

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

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A Rare Case of Cerebral Sinovenous Thrombosis Associated with MTHFR A1298C and C677T Mutations.

Seh Hyun KIM ; Na Mi LEE ; Soo Ahn CHAE

Neonatal Medicine.2016;23(3):168-172. doi:10.5385/nm.2016.23.3.168

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

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A Case of Spontaneous Twin Anemia-Polycythemia Sequence.

Kwan Dae MYUNG ; Yeon Kyung LEE ; Sun Young KO ; Son Moon SHIN ; Jin Hoon CHUNG ; Sung Ran HONG

Neonatal Medicine.2016;23(3):163-167. doi:10.5385/nm.2016.23.3.163

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*

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Successful Peritoneal Dialysis in an Extremely Preterm Infant.

Jisun HUH ; Jihye HWANG ; Eun Hee LEE ; Yoon Jung BOO ; Byung Min CHOI ; Young Sook HONG

Neonatal Medicine.2016;23(3):158-162. doi:10.5385/nm.2016.23.3.158

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*

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Clinical Characteristics of Patients with Bronchopulmonary Dysplasia Admitted to Pediatric Intensive Care Unit.

Yeon Chul CHOI ; Won Kyoung JHANG ; Seong Jong PARK

Neonatal Medicine.2016;23(3):151-157. doi:10.5385/nm.2016.23.3.151

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

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Vitamin D Status in Early Preterm Infants.

Jeong Eun LEE ; Weon Kyung LEE ; Ga Won JEON ; Jong Beom SIN

Neonatal Medicine.2016;23(3):143-150. doi:10.5385/nm.2016.23.3.143

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*

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Causes and Clinical Features of Transient Hypocalcemia in Newborn: A Single Center Study.

Byung Jin SONG ; Hae Sook KIM ; Won Duck KIM

Neonatal Medicine.2016;23(3):137-142. doi:10.5385/nm.2016.23.3.137

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

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The Clinical Features and Prognosis of Nephrocalcinosis in Preterm Neonates: A Single Center Study in Korea.

Hyunju LEE ; So Yeon SHIM ; Eun Ae PARK ; Su Jin CHO

Neonatal Medicine.2016;23(3):131-136. doi:10.5385/nm.2016.23.3.131

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

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For the Commemoration of the 20th Anniversary of the Korean Society of Neonatology.

Ran NAMGUNG

Neonatal Medicine.2013;20(3):235-235. doi:10.5385/nm.2013.20.3.235

The Special Edition of Neonatal Medicine was published to commemorate the 20th anniversary of the Korean Society of Neonatology. This volume covers the footprint of academic achievement in neonatology in Korea over the past 20 years. It contains articles regarding the changing trends in epidemiology of neonatal diseases including strategies to overcome survival limits of extreme premies and improvements in neonatal intensive care practices. We tried to cover various therapeutic areas such as bilirubin metabolism, bilirubin encephalopathy, metabolic bone diseases of prematurity, neonatal lung diseases, pathophysiology and identification of risk factors of bronchopulmonary dysplasia, and clinical application of plasma B-type natriuretic peptide test in preterm babies with patent ductus arteriosus. In addition, articles concerning clinical application of neural stem cells as well as pharmacotherapy of neonatal hypoxic ischemic encephalopathy are featured. Other topics that are not covered in this volume will be published as review articles in the following issues of Neonatal Medicine. This compilation of valuable articles by contributing authors is the culmination of hard work and sleepless nights of Korean neonatologists. I would like to express sincere gratitude for the interest and participation of all the members of the Korean Society of Neonatology for the advancement of neonatal care and the society.
Achievement ; Anniversaries and Special Events ; Bilirubin ; Bone Diseases, Metabolic ; Bronchopulmonary Dysplasia ; Ductus Arteriosus, Patent ; Humans ; Hypoxia-Ischemia, Brain ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Kernicterus ; Korea ; Lung Diseases ; Natriuretic Peptide, Brain ; Neonatology ; Neural Stem Cells ; Plasma ; Risk Factors

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