• Toxicological Research
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• 제17권
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• pp.11-16
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• 2001

The development of the central nervous system is a continuous process during the embryonic and fetal periods. For a better understanding of congenital anomalies of central nervous system, three major events of normal development, i.e., neurulation (3 to 4 weeks), brain vesicle formation (4 to 7 weeks) and mantle formation (over 8 weeks) should be kept in mind. The first category of anomalies is neural tube defect. Neural tube defects encompass all the anomalies arise in completion of neurulation. The second category of central nervous system anomalies is disorders of brain vesicle formation. This is anomaly that applies for "the face predicts the brain". Holoprosencephaly covers a spectrum of anomalies of intracranial and midfacial development which result from incomplete development and septation of midline structures within the forebrain or prosencephalon. The last category of central nervous system malformation is disorders involving the process of mantle formation. In the human, neurons are generated in two bursts, the first from 8 to 10 weeks and next from 12 to 14 weeks. By 16 weeks, most of the neurons have been generated and have started their migration into the cortex. Mechanism of migration disorders are multifactorial. Abnormal migration into the cortex, abnormal neurons, faulty neural growth within the cortex, unstable pial-glial border, degeneration of neurons, neural death by exogenous factors are some of the proposed mechanism. Agyria-pachygyria are characterized by a four-layerd cortex. Polymicrogyria is gyri that are too numerous and too small, and is morphologically heterogeneous. Cortical dysplasia is characterized by the presence Q[ abnormal neurons and glia arranged abnormally in focal areas of the cerebral cortex. Neuroglial malformative lesions associated with medically intractable epilepsy are hamartia or hamartoma, focal cortical dysplasia and microdysgenesis.ysgenesis.

• Journal of Chest Surgery
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• 제28권4호
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• pp.381-386
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• 1995

In our hospital we have seen 20 cases of congenital diaphragmatic anomalies from June 1984 until December 1993. These were classified into 10 cases of diaphragmatic eventration, 8 cases of Bochdalek hernia, 1 case of Morgagni hernia, and 1 case of esophageal hiatal hernia. Diaphragmatic eventration cases were composed of 8 males and 2 females with ages varing from 3 hour to 42 year. They were discovered by symptoms: 5 cases of respiratory insufficiency; 3 cases of frequent respiratory infection; and 2 cases by chance; 6 cases involved the left side, 4 cases involved right side. Emergency operations were done to 4 patients. Among the 10 patients, only one operative mortality occurred; 3 hour old female.Bochdalek hernia cases composed 6 females and 2 males, 5 patients were less than 6 hour old. All patients were operated on an emergency status and three of them expired due to the vicious cycle of pulmonary hypertension and pulmonary vasoconstriction, persistent fetal circulation, hypoxia, and metabolic acidosis. Morgagni hernia was seen in one 69 year old female patient, she had no complaint of symptoms and was incidentally detected. Hernia was repaired through right thoracotomy. She was discharged with healthy appearence. Esophageal hiatal hernia was seen in a 10 month old male patient, his symptoms were persistent vomiting and coughing since birth. Sliding type of esophageal hiatal hernia repair was completed through left thoracotomy.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Clinical and Experimental Pediatrics
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• 제50권3호
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• pp.268-271
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• 2007

목 적 : 태아 순환에서 난원공은 제대정맥의 혈류가 좌심방으로 가는 단락 역할을 하며 심박출량의 46%에 이른다. 산전에 좌심형성부전, 대동맥 판막 폐쇄, 승모판 폐쇄 및 협착증 등의 선천성 심기형과 동반된 난원공 조기 협착은 비교적 흔하며 출생 후의 경과에도 중요한 영향을 미칠 수 있다. 그러나 자궁 내에서 난원공 협착 혹은 폐쇄가 선천성 심기형 없이 발생하는 경우는 매우 드물다. 산전의 난원공 협착 혹은 폐쇄는 우심실부전, 태아수종, 삼첨판역류, 좌심폐쇄성질환, 상심실성빈맥 등의 임상소견을 보일 수 있고, 이는 태아의 사망률 혹은 유병률에 영향을 미칠 수 있으므로 조기 진단 및 치료가 매우 중요하다. 방 법 : 충남대학교병원에서 2001년 1월부터 2005년 6월까지 태아 심초음파검사에서 자궁 내 난원공의 협착으로 진단받은 5명을 대상으로 하였다. 자궁 내 난원공 협착의 진단기준은 4강면에서 난원공의 최대직경이 2.5 mm 이하, 그리고 난원공에서 측정한 도플러검사에서 연속파이며 0.6 m/s 이상인 경우로 하였다. 산모의 임신력, 주소, 태아심초음파검사 소견과 출생 후의 임상경과를 조사하였다. 결 과 : 태아 난원공 협착의 진단 시 태아의 재태연령은 34-37주였고, 내원 시 주소는 태아 부정맥이 2례, 엡스타인 기형 의증, 심낭삼출, 좌심형성부전이 각각 1례였다. 출생시 재태연령은 36-40주였다. 동반기형은 관찰되지 않았다. 태아수종과 상심실성 빈맥증으로 진단된 2례는 응급으로 분만하였고, 태아수종 환아는 호흡부전이나 가사는 없었고, 심폐 소생술이나 인공호흡기 등의 치료가 필요하지는 않을 정도의 경도였고, 상심실성 빈맥증 환아는 분만 후 심방조동이 발생하여 심장율동전환 후 동조율로 전환되었고, 그 후 디곡신 1개월 사용 후 중단하였다. 출생 후 시행한 심초음파검사에서 5례 모두에서 우심실과 우심방 비대가 관찰되었고, 생후 7일경에 시행한 심초음파검사에서 우측 심장의 확장은 정상화되었다. 결 론 : 태아 난원공 협착은 아주 드물지 않으며 부가적인 심장내외의 이상을 보여 예후에 영향을 줄 수 있다. 심부전이나 태아수종 등의 위험성이 있을 경우 조기 분만하여 태아의 사망률과 유병률을 줄일 수 있다.

• Tuberculosis and Respiratory Diseases
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• 제43권5호
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• pp.805-811
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• 1996

저자들은 14세 여아에서 호흡곤란과 흉통이 발생하였으나, 긴장성 기흉등으로 잘못 인식되었던 선천성 낭종성 선종성 기형(CCAM)을 진단하여 수술적 방법으로 치료한 증례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Archives of Plastic Surgery
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• 제34권2호
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• pp.181-185
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• 2007

Purpose: Cleft lip and/or palate is the most common congenital facial anomaly whose incidence is about 1 in 500~1000 live births. As this anomaly may be associated with the serious chromosomal anomalies or the multiple organ abnormalities resulting in the fetal loss or perinatal maternal morbidity and mortality, careful prenatal counseling with early and accurate detection is important. Although conventional prenatal ultrasound(US) examination in midterm pregnancy has been applied for screening of cleft lip, there are definite limitations in the diagnosis of accompanying cleft palate or alveolar cleft. We applied high-resolution 3D US along the serial axial, coronal and sagittal plane so that we could diagnose the cleft palate and/or alveolar cleft in fetuses with cleft lip. Methods: From May 2005 to September 2005, 20 fetuses with cleft lip were examined with prenatal 3D US. Average maternal age was 28.8 years old(24-35 years old), and average gestational age was 24.8 weeks(17.6 to 34.2 weeks). Consecutive axial, coronal and sagittal multislice view were obtained via prenatal 3D US examination and diagnosis of cleft palate and/or alveolar cleft in cleft lip fetuses was followed. Results: With noninvasive and safe prenatal 3D US examination, 17 of 20 cleft lip fetuses were demonstrated to have cleft palate and/or alveolar cleft. Prenatal counseling according to the result was made. Conclusion: Existing prenatal US examination is suitable for screening the cleft lip fetuses but has limitation in identifying the related existence of cleft palate and/ or alveolar cleft. Authors verify the presence of cleft palate and/or alveolar cleft acquiring the successive multislice axial, coronal, and sagittal view with prenatal 3D US examination. Therefore, prenatal 3D US examination could be regarded as a noninvasive and secure screening modality in fetuses with cleft lip for confirming whether cleft palate and/or alveolar cleft is accompanied.

• Clinical and Experimental Pediatrics
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• 제45권2호
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• pp.261-266
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• 2002

저자들은 출생 후 호흡기 증상이 지속되어 오던 여아가 respiratory syncytial virus와 b형 헤모필루스 인플루엔자균에 의한 하기도 감염에 이환되면서 생후 4개월에 혈관륜으로 진단된 1예를 보고하는 바이다. 환아는 출생 후 협착음과 천명음 등의 잦은 호흡기 증상을 보였고, 3개월에 호흡 곤란을 주소로 입원하였으며 respiratory syncytial virus에 의한 세기관지염으로 치료받고 호전되었다. 퇴원 후 증상이 다시 악화되어 재입원 하였으며 b형 헤모필루스 인플루엔자균에 의한 기관염 및 폐렴이 확인되었고, 치료를 위해 기관내 튜브에 도관 삽입을 시도하였을 때 하부 기도에서 저항감이 감지되어 기도 부위의 해부학적 기형을 의심하게 되었다. 3차원 흉부 단층 촬영에서 이중 대동맥궁으로 인한 혈관륜이 확인되었고, 교정 수술을 시행한 후 좋은 경과를 보이고 있다.

• Clinical and Experimental Pediatrics
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• 제58권10호
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• pp.392-397
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• 2015

Purpose: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. Methods: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013. Results: The first presentations were jaundice, murmur, cyanosis, and small bowel obstruction at a median age of 1.0 months (range, 0-24 months). The JAG1 mutation was found in 27 of the 28 genetically-tested patients. Cardiovascular anomalies were identified in 36 patients, chronic cholestasis was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and cardiac diseases. The most common cardiovascular anomaly was peripheral pulmonary stenosis (83.3%), with 13 patients having significant hemodynamic derangement and 12 undergoing surgical repair. A total bilirubin level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight patients died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and heart disease had the poorest survival (P<0.001). Conclusion: The group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.

• Advances in pediatric surgery
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• 제3권1호
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• pp.15-23
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• 1997

During a 6-year period, from January 1990 to December 1995, 101 neonates with congenital anomalies were admitted to the division of Pediatric Surgery of Youngdong Severance Hospital. All of them had prenatal screening more than once with ultrasound. Fifty eight of them had prenatally detectable anomalies by ultrasonography. However abnormalities were prenatally detected in 24 neonates(41%). The detection rate was 70% in patientws who had the prenatal screening at our hospital, whereas, the rate was 24% when it was performed at other medical facilities. Duodenal and jejuno-ileal atresia showed the highest detection rate(86%) followed by abdominal mass. Esophageal atresia was suggested by maternal polyhydramnios in 3 patients (25%). Only one patient with diaphragmatic hernia(1.75%) was prenatally detected and none with gastroschisis. The mean interval from birth to operation was 32 hours in the prenatally detected patients and 50 hours in the non detected. The complication rate and the mortality after emergency operation were 20% and 7% in the detected group, and 58% and 23% in the nondetected, respectively. The average period of the hospitalization was 20 days in the detected group and 39 days in the nondetected. We conclude that the prenatal detection of anomalies is necessary to ensure adequate care for the mothers and the babies with congenital anomalies. This includes early transfer, timing of optimal delivery and operation.

• Clinical and Experimental Pediatrics
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• 제49권1호
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• pp.64-70
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• 2006

목 적 : 신생아 수신증은 산전 초음파가 널리 시행됨으로써 그 빈도가 증가하고 있다. 그러나 출생 후 수신증의 자연경과에 대한 이해는 아직 부족한 상태이다. 저자들은 산전 초음파에서 발견되어 산후 수신증으로 진단된 환아들에서 생후 1개월 때의 초음파 소견에 따른 1년 추적 결과를 알아보고, 초기 초음파 소견에 따라 이들의 경과를 예측해보고 치료방침을 세우는데 도움이 되고자 하였다. 방 법 : 1996년 11월부터 2004년 4월까지 산전 초음파상에서 수신증이 발견되어 생후 1개월에 시행한 신초음파검사상 수신증이 확인된 기타 요로기형이 없는 일측성 수신증 환아 중 서울아산병원 소아과에서 1년 이상 추적 관찰했던 153명의 환아를 대상으로 하였다. 신초음파검사상에서 신우전후경(anterior posterior pelvic diameter, APPD)과 Society for Fetal Urology(SFU) 지수 분류 정도에 따라 결과를 분석하였다. 결 과 : 초기 신초음파 소견 중 APPD가 20 mm 미만인 군의 경우에는 대부분 좋아지거나 변화가 없었고, SFU 지수가 1, 2군의 경우에도 대부분 좋아지거나 변화가 없었으며 수술한 경우는 한 례도 없었다. 3군의 경우에는 13례 중 1례(7.5%)만이 수술을 받았고 대부분 변화가 없었다. 4군의 경우에는 50례 중 32례(64%)가 수술을 받았다. SFU 지수 4군 안에서는 APPD의 크기가 증가할수록 수술 위험도가 높아 10 mm 미만, 10-19 mm, 20-29 mm, 30 mm 이상에서는 각각 0/2례(0%), 5/11례(45.5%), 11/17례(64.7%), 16/20례(80%)가 수술을 받았다. 결 론 : 초기 초음파 소견상 SFU 지수가 3 이하인 경우는 수술의 위험성이 적으므로 기존의 검사 계획보다 추적 검사 시기를 늦출 수 있고 검사수도 줄일 수 있을 것이다. 그러나, SFU 지수가 4인 경우, 특히 APPD가 큰 경우에는 향후 수술의 위험도가 높으므로 이뇨성 신기능검사에서 폐색이 의심되거나 신기능이 감소되는 소견을 보이면 빠른 시일 내에 수술을 하여야 한다.