• Neonatal Medicine
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• 제16권2호
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• pp.239-243
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• 2009

다소성 심방 빈맥은 신생아에서 드물게 발생하며 진단하기에 어려워 심방 조동으로 오인되기도 한다. 치료가 어려우나 생후 1년 안에 자연적으로 사라지는 경우도 있다. 불규칙한 심방 빈맥을 가진 신생아에게 직접 제작한 경식도 전극을 이용한 심전도를 시행하여 다소성 심방 빈맥을 진단하였다. Propranolol은 치료에 효과적이지 않았으나 digoxin과 sotalol 투여 후 환자는 점차 동리듬으로 회복되었다. 신생아에서 경식도 전극을 이용하여 다소성 심방 빈맥을 진단하였던 1례를 보고한다.

• Neonatal Medicine
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• 제16권2호
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• pp.244-247
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• 2009

갑상선 반쪽 무형성증은 갑상선의 한쪽 엽이 형성되지 않는 드문 선천성 갑상선 질환이다. 갑상선 반쪽 무형성증 자체는 대개 아무런 임상 증상을 초래하지 않으므로 대부분은 동반된 갑상선 질환을 진단하는 과정이나 수술 중에 우연히 발견된다. 저자들은 선천성 갑상선기능저하증이 의심되어 내원한 1개월된 영아에서 원인을 찾던 중에 갑상선 초음파 및 스캔 검사를 통해 갑상선 반쪽 무형성증을 진단하였기에 보고하는 바이다.

• Neonatal Medicine
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• 제15권1호
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• pp.84-88
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• 2008

저자들은 짧은 목과 짧은 흉곽, 경추에서 흉추에 걸쳐 척추열, 척추분절, 척추반측이상, 척추부재 등의 척추기형과 짧은 늑골, 늑골 융합과 늑골의 부재 등의 늑골기형과 함께 우측 신장이 좌측 신장에 융합된 신장기형을 동반한 Jarcho-Levin 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Neonatal Medicine
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• 제28권2호
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• pp.77-82
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• 2021

We present the case of a healthy 28-day-old female full-term neonate who was admitted to the neonatal intensive care unit for severe metabolic acidosis, hypoglycemia, and an initial sinus rhythm. The first diagnostic hypothesis was hypovolemic shock, and fluid resuscitation was started immediately. During fluid therapy, cardiovascular collapse occurred with supraventricular tachycardia. The latter was successfully treated with adenosine and beta-blockers. After 8 days, electrocardiography showed ventricular pre-excitation, and Wolff-Parkinson-White syndrome was diagnosed. A novel variant of the MYL2 gene that is related to hypertrophic cardiomyopathy and conduction defect was found after discharge. Cardiogenic shock should be considered, despite being a rare cause of shock in neonates.

• Neonatal Medicine
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• 제28권2호
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• pp.94-98
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• 2021

Neonatal diabetes mellitus (NDM) is a rare disease that occurs at less than 6 months of age and is presumably caused by a mutation in the gene that affects pancreatic beta-cell function. Approximately 80% of NDM cases reveal a known genetic mutation, and mutations in potassium inwardly rectifying channel subfamily J member 11 (KCNJ11) and ABCC8 affecting the pancreatic beta-cell adenosine triphosphate-sensitive potassium channel may be treated with oral sulfonylurea. Early recognition of mutations in KCNJ11 and ABCC8 is important because early administration of sulfonylurea can not only control blood glucose levels but also improve neurodevelopmental outcomes. In the present study, we report a case of NDM that initially presented as diabetic ketoacidosis at the age of 1 month, accompanied by seizures during hospitalization. After confirmation of the KCNJ11 gene mutation (c.989A>C), we started administering oral sulfonylurea (glimepiride) at the age of 2 months. After gradually increasing the dosage of glimepiride, insulin was discontinued at the age of 3 months. To date, the infant's blood glucose levels have been well controlled without significant hypoglycemic events. No further episodes of seizures have occurred, and his developmental status is favorable.

• Neonatal Medicine
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• 제28권2호
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• pp.89-93
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• 2021

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

• Neonatal Medicine
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• 제28권1호
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• pp.7-13
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• 2021

Purpose: To evaluate the risk factors and effects of fluctuations in oxygen saturation on the occurrence and severity of retinopathy of prematurity (ROP). Methods: From January 1, 2013 to January 31, 2020, 260 patients hospitalized in the neonatal intensive care unit of Ajou University Hospital were retrospectively analyzed. Results: Sixty-six patients (25%) were diagnosed with ROP; of them 39 required treatment. In the multivariate regression analysis of ROP severity, the odds ratio (OR) of gestational age was 0.32 (95% confidence interval [CI], 0.22 to 0.47; P<0.0001). The OR of saturation of peripheral oxygen (SpO₂) fluctuations at the 4th week after birth was 1.02 (95% CI, 1.02 to 1.12; P=0.041). Conclusion: SpO₂ fluctuations in premature infants younger than 30 weeks' gestational age affects ROP severity, especially at the 4th week of life.

• Neonatal Medicine
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• 제25권4호
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• pp.196-201
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• 2018

Umbilical venous catheterization (UVC) is a common practice in intensive neonatal care. However, a malpositioned UVC and its prolonged use may lead to various problems, including mechanical, infectious, and thrombotic complications in various organs such as the liver, lungs, and heart. Congenital chylous ascites is characterized by abnormally high levels of triglycerides in the peritoneal fluid of newborns, which originate from refluxed lymph within the abdominal cavity. Herein, we report a case of an UVC complication presenting as chyloperitoneum simulating congenital chylous ascites in a preterm neonate that resulted from total parenteral nutrition (TPN) extravasation from a malpositioned UVC. Biochemical analysis of intraperitoneal chylous fluid and TPN infusate could help confirm the origin of chyloperitoneum. This case suggests that TPN extravasation from UVC should be considered when chyloperitoneum develops in newborns with an indwelling catheter. UVC positions must also be carefully monitored at regular intervals to recognize associated complications early, particularly in cases with an inevitably malpositioned catheter related to the anatomy of the vessel course.

• Neonatal Medicine
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• 제28권1호
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• pp.59-63
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• 2021

An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal onset of LQTS imposes high risk of life-threatening tachyarrhythmias and sudden cardiac death. Here, we report the case of a female newborn with fetal onset of bradycardia and a 2:1 atrioventricular (AV) block. After birth, a 12-lead electrocardiogram (ECG) revealed bradycardia with QT prolongation of a corrected QT (QTc) interval of 680 ms and pseudo 2:1 AV block. Genetic testing identified a heterozygous Gly402Ser (c.1204G>A) mutation in CACNA1C, confirming the diagnosis of LQTS type 8 (LQT8). The patient received propranolol at a daily dose of 2 mg/kg. Mexiletine was subsequently administered owing to the sustained prolongation of the QT interval and pseudo 2:1 AV block. One week after mexiletine inception, the ECG still showed QT interval prolongation (QTc, 632 ms), but no AV block was observed. There were no life-threatening tachyarrhythmias in a follow-up period of 13 months.

• 대한치과교정학회지
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• 제52권4호
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• pp.308-312
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• 2022

Since the emergence of neonatal infant orthodontics for treatments of cleft lip and palate with or without Robin sequence (RS) in Europe in the 1950s, advancements in design and scope of its application have been remarkable. As the first institution to adopt orthodontic airway plate (OAP) treatment in the United States in 2019, we saw a need for innovation of the original design to streamline the most labor-intensive and time-consuming aspects of OAP utilization. A solution is introduced using a systematic split expansion mechanism to re-size the OAP periodically to accommodate the neonate's maxillary growth. To date, seven RS patients have received this modified treatment protocol at our institution. Each patient completed full treatment using only one OAP. This innovative utilization method is aptly named the split orthodontic airway plate (S-OAP). Details of the S-OAP and its modifications from conventional OAP are reported.