• 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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• 제50권9호
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• pp.868-874
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• 2007

목 적 : 선천성 근육긴장성 이영양증(congenital myotonic dystrophy, CDM) 환자의 주산기 병력, 영아기 및 소아기의 증상, 그리고 환자 어머니의 임상양상을 확인하여, 임상진단에 도움이 될 수 있는 특징적인 소견과, DMPK유전자의 CTG 서열반복 수와 운동발달 관계를 확인하고자 하였다. 방 법 : 2001년 1월부터 2006년 9월까지 삼성서울병원에서 DMPK 유전자 검사를 통해 CDM으로 확진된 환자 8명(남자 2명, 여자 8명)을 대상으로 의무기록과 DMPK 유전자 검사를 후향적으로 분석하였다. 결 과 : 진단 시 환자들의 연령은 7일에서 45개월(중앙값: 20.5 개월)이었으며, 환자들은 발달지연, 수유곤란, 그리고 근육긴장저하를 주소로 내원하였다. 3명의 환자에서 산전 초음파 상 원인 불명의 양수과다증이 확인되었다. 모든 환자에서 운동발달지연이 있었으며, 연령이 증가할수록 호전되었다. 모든 환자들의 어머니에서 전형적인 근병증의 모습과 근육긴장증을 확인하였고, 4명의 환자에서는 어머니 형제의 가족력을 확인하였다. DMPK유전자의 CTG 서열반복 수는 1,000-2,083(중앙값: 1,533.5)의 분포를 보였으며, 운동발달 중 혼자 걷기의 지연 정도와 유의한 상관관계는 없었다. 1명의 환자에서 세대간 예견효과를 확인하였다. 결 론 : CDM 환자는 산전초음파에서 양수과다증, 내반첨족, 태동의 저하 등의 소견을 보이고, 출생 후 근육긴장저하와 연관된 호흡곤란, 수유곤란, 그리고 발달지연 등의 증상을 나타낸다. 모든 환자들의 어머니는 특징적인 근병증의 외양과 근육긴장증을 가지고 있어, 산모에 대해 이러한 소견을 확인하는 것이 산전진단에 중요한 단서가 된다. CDM에서 근육긴장저하와 연관된 증상은 연령이 증가할수록 호전되며, DMPK 유전자의 CTG 서열반복 수와 운동발달 중 혼자 걷기 시기 간의 유의한 연관은 없었다.

• Clinical and Experimental Pediatrics
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• 제51권1호
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• pp.89-92
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• 2008

신생아의 피막하 간 혈종은 다양한 원인에 의해서 유발되는데 대부분은 출혈의 양이 적어 임상적으로 발견되기 보다는 부검시 발견되는 경우가 많다. 그러나 출혈의 양이 많아 혈종을 싸고 있는 피막이 파열되고 잇따른 출혈이 발생할 경우에는 창백, 혈관 허탈, 빈혈, 복부팽만, 저산소증, 산혈증 등의 증상을 보이므로 조기에 의심하여 정확한 진단을 내리고 적절한 수술적 치료를 실시하지 않으면 사망률이 높다. 저자들은 태변 흡입후 신생아 가사 소견을 보여 심폐소생술을 실시한 신생아에서 출생후 7일에 발현된 대량 피막하 간 혈종 파열 1례를 경험하였기에 보고하는 바이다.

• Advances in pediatric surgery
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• 제10권2호
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• pp.107-111
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• 2004

Recently, the incidence of perinatally detected asymptomatic adrenal gland masses has increased because of widespread use of radiological diagnostic tools. However, optimal treatment of these masses has not been determined. The aim of this study is to elucidate the treatment guideline of perinatally diagnosed adrenal gland masses. The authors retrospectively reviewed the medical records of the 11 patients with asymptomatic adrenal gland mass, detected perinatally, between 1999 and 2004. Six cases were detected by prenatal ultrasound and 5 cases were incidentally detected by postnatal ultrasound. Six patients (surgery group) underwent mass excision. The pathologic diagnoses were neuroblastoma (n=4), adrenocortical adenoma (n=1) and adrenal pseudocyst (n=1). The indications for operation were suspicion of neuroblastoma (n=5) or absence of size decrease during observation (n=1). Three of the 5 suspicious cases of neuroblastoma and one case under observation were proven to be neuroblastoma. There was no surgical complication in the urgery group. All neuroblastoma patients have been well during the follow up period ($24.4{\pm}14.4$ month) without evidence of recurrence. Five cases (observation group) were closely observed because of the benign possibility or size decrease in follow up ultrasound. During the observation period ($39{\pm}21$ week), 4 cases showed complete spontaneous resolution and 1 case showed markedly decreased size of the mass but could not be followed up completely. Surgical resection of the perinatally diagnosed asymptomatic adrenal gland mass is a safe treatment method especially in case of suspicion of neuroblastoma, but closed observation can be applied.

• Clinical and Experimental Pediatrics
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• 제63권8호
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• pp.329-334
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• 2020

Background: Birth asphyxia is a leading cause of neonatal mortality. Ischemia-modified albumin (IMA) levels may have a predictive role in the identification and prevention of hypoxic disorders, as they increase in cases of ischemia of the liver, heart, brain, bowel, and kidney. Purpose: This study aimed to assess the value of IMA levels as a diagnostic marker for neonatal hypoxic-ischemic encephalopathy (HIE). Methods: Sixty newborns who fulfilled 3 or more of the clinical and biochemical criteria and developed HIE as defined by Levene staging were included in our study as the asphyxia group. Neonates with congenital malformation, systemic infection, intrauterine growth retardation, low-birth weight, cardiac or hemolytic disease, family history of neurological diseases, congenital or perinatal infections, preeclampsia, diabetes, and renal diseases were excluded from the study. Sixty healthy neonates matched for gestational age and with no maternal history of illness, established respiration at birth, and an Apgar score ≥7 at 1 and 5 minutes were included as the control group. IMA was determined by double-antibody enzyme-linked immunosorbent assay of a cord blood sample collected within 30 minutes after birth. Results: Cord blood IMA levels were higher in asphyxiated newborns than in controls (250.83±36.07 pmol/mL vs. 120.24±38.9 pmol/mL). Comparison of IMA levels by HIE stage revealed a highly significant difference among them (207.3±26.65, 259.28±11.68, 294.99±4.41 pmol/mL for mild, moderate, and severe, respectively). At a cutoff of 197.6 pmol/mL, the sensitivity was 84.5%, specificity was 86%, positive predictive value was 82.8%, negative predictive value was 88.3%, and area under the curve was 0.963 (P<0.001). Conclusion: IMA levels can be a reliable marker for the early diagnosis of neonatal HIE and can be a predictor of injury severity.

• 대한소아치과학회지
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• 제25권3호
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• pp.555-561
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• 1998

1. Hypophosphatasia는 골조직 및 치아조직의 비정상적인 석회화를 나타내는 대사장애로, 특징적 구강내 소견 인 유치의 조기탈락 양상으로 치과에서 조기진단이 가능하다. 2. 본 증례에서 상악궁 확장을 동반한 의치 제작으로 심미적, 기능적으로 양호한 결과를 얻었으며, 영구치열기 까지 장기적 관찰 및 치료가 필요할 것으로 사료된다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제2권2호
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• pp.262-266
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• 1999

Obstruction of the extrahepatic bile ducts is the most common cause of conjugated hyperbilirubinemia in early infancy. More than 90% of such obstructive lesions are accounted for by extrahepatic biliary atresia. A rare lesion is obstruction of the common duct by impacted, thickened secretions and bile. Bile plug syndrome is defined as extrahepatic obstruction of the bile ducts by bile sludge in term infants without anatomic abnormalities, congenital chemical defects of bile, or hepatocellular lesions. Obstruction of extrahepatic ducts by plugs of biliary material apperas to be due to the inspissation and precipitation of bile and mucus within the lumen of the ducts. Cholestasis and precipitation of bile develop in association with abnormal composition of bile in cystic fibrosis, hepatocellular damage, prolonged erythroblastic jaundice, altered biliary dynamics with total parenteral nutrition, gut dysfunction, diuretic therapy, exchange transfusions and perinatal hemolysis. In those cases, the term inspissated bile syndrome is used. The clinical and laboratory findings in bile plug syndrome are identical to those observed in biliary atresia and choledochal cyst. The diagnosis can be suspected based on the findings of clinical and laboratory examinations together with hepatobiliary imaging, ultrasonography, radionuclide scan and liver biopsy. We experienced a case of spontaneous resolution of bile plug syndrome in a 4-year-old girl. We report this case with brief review related literatures.

• Neonatal Medicine
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• 제15권1호
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• pp.105-110
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• 2008

신생아 간농양은 특별한 증상이 발현되지 않거나 비특이적인 증상 때문에 진단이 늦어지는 경우가 많다. 항생제의 사용에도 불구하고 염증 반응이 지속되며 복부증상이 함께 나타나는 경우, 주산기 산모의 심한 감염, 융모양막염 등의 선행인자가 있고, 제대혈관 도관과 관련된 패혈증이 있는 경우에는 간농양의 가능성을 고려해야 한다. 저자들은 생후 9일된 미숙아에서 제대정맥 도관과 함께 산모의 폐렴 및 심한 융모양막염이 선행요인이 되어, 단일성 간농양이 발생한 진단된 사례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Neonatal Medicine
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• 제28권3호
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• pp.133-138
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• 2021

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

• Clinical and Experimental Pediatrics
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• 제64권4호
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• pp.180-187
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• 2021

Background: Severe perinatal asphyxia results in multiple organ involvement, neonate hospitalization, and eventual death. Purpose: This study aimed to investigate the predictive factors of death in newborns with hypoxic-ischemic encephalopathy (HIE) receiving selective head cooling. Methods: This cross-sectional descriptive-retrospective study was conducted from 2013 to 2018 in Fatemieh Hospital of Hamadan and included 51 newborns who were admitted to the neonatal intensive care unit with a diagnosis of HIE. Selective head cooling for patients with moderate to severe HIE began within 6 hours of birth and continued for 72 hours. The required data for the predictive factors of death were extracted from the patients' medical files, recorded on a premade form, and analyzed using SPSS ver. 16. Results: Of the 51 neonates with moderate to severe HIE who were treated with selective head cooling, 16 (31%) died. There were significant relationships between death and the need for advanced neonatal resuscitation (P=0.002), need for mechanical ventilation (P=0.016), 1-minute Apgar score (P=0.040), and severely abnormal amplitude-integrated electroencephalography (a-EEG) (P=0.047). Multiple regression of variables or data showed that the need for advanced neonatal resuscitation was an independent predictive factor of death (P=0.0075) and severely abnormal a-EEG was an independent predictive factor of asphyxia severity (P=0.0001). Conclusion: All cases of neonatal death in our study were severe HIE (stage 3). Advanced neonatal resuscitation was an independent predictor of death, while a severely abnormal a-EEG was an independent predictor of asphyxia severity in infants with HIE.