흉곽 내 신장을 동반한 Jarcho-Levin 증후군 1례

변신연,성명화,최정미,김태홍,황규근,정진아 대한소아청소년과학회 2004 Clinical and Experimental Pediatrics (CEP) Vol.47 No.11

In 1938, Jarcho and Levin initially described shortening of the trunk, prominent occiput, broad forehead, multiple vertebral defects and ribs anomaly, short neck, increased anteroposterior chest diameter, lordosis, kyphoscoliosis. After that, Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes. We examined a girl who was suspected as suffering from Jarcho-Levin syndrome because she had shortening of the trunk, multiple vertebral defects and ribs anomaly, short neck, increased anteroposterior chest diameter, lordosis, kyphoscoliosis. We report a case of Jarcho-Levin syndrome with intrathoracic kidney, and review related literature. 저자들은 fan-like 흉곽, 갈라진 척추, 융합된 늑골 기형, 늑골의 부재와 함께 흉곽 내 신장을 동반한 Jarcho-Levin 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

늑막삼출 유무에 따른 마이코플라즈마 폐렴의 임상 양상의 비교

변신연,배윤진,유재호,정진아 대한 소아알레르기 호흡기학회 2006 Allergy Asthma & Respiratory Disease Vol.16 No.4

Purpose : Mycoplasma pneumoniae (M. pneumoniae) is a major cause of respiratory infections in school-aged children. Complications of M. pneumoniae pneumonia include atelectasis, pleural effusion, empyema, pneumothorax and bronchiectasis. We evaluated the clinical characteristics of M. pneumoniae pneumonia with pleural effusion. Methods : A total of 210 medical records of children who were admitted to the Dong-A University hospital due to M. pneumoniae pneumonia from 2000 to 2004 were retrospectively analyzed. Diagnosis of M. pneumoniae pneumonia was based on the single titer of antimycoplasmal antibody higher than 1:320. Enrolled children were divided into Group A (with pleural effusion) and Group B (without effusion). We analysed the differences between the two groups according to sex, age, onset, symptoms, clinical manifestations, laboratory findings and chest x-rays. Results : There were no significant differences in age, sex and clinical manifestations between the two groups. Group A had longer fever durations (9.3±7.8 days vs 5.0±3.7 days), and a longer duration of hospitalization (10.4±6.3 days vs 6.9±6.3 days) compare to Group B. Also, compared to the Group B, Group A had higher ESR (49.6±32.9 mm/hr vs 28.7±20.4 mm/hr), CRP (23.0±60.4 mg/dL vs 8.7±30.9 mg/dL), SGOT (67±74.2 IU/L vs 53.6±60.0 IU/L), SGPT (37.4±18.6 IU/L vs 26.2±16.9 IU/L). There was no significance between antimycoplasmal antibody titer and pleural effusion. Conclusion : This study shows that M. pneumoniae pneumonia with pleural effusion has a longer duration of fever and hospitalization, higher ESR, CRP, SGOT, SGPT compare to the M. pneumoniae pneumonia without pleural effusion. We conclude that these findings could be used as the prognostic factors in M. pneumoniae pneumonia with pleural effusion. 목 적 : Mycoplasma pneumoniae는 학동기 소아에서 호흡기 감염의 주된 원인균이며, 마이코플라즈마 폐렴의 호흡기 합병증으로는 무기폐, 늑막 삼출, 폐농양, 폐기종, 기관지 확장증 등이 있다. 이번 연구에서는 마이코플라즈마 폐렴에서 늑막 삼출 유무에 따른 임상 양상의 특징을 비교해보고자 하였다. 방 법 : 2000년 1월부터 2004년 12월까지 동아대학교의료원 소아과에 입원한 마이코플라즈마 폐렴 환자 210명을 대상으로 입원 기록을 후향적으로 비교분석하였다. 마이코플라즈마 폐렴의 진단기준은 항 마이코플라즈마 항체역가가 1:320 이상인 경우로 하였으며 늑막 삼출을 동반한 경우(A군)와 동반하지 않은 경우(B군)로 나누어 성별, 연령, 발생시기, 증상, 이학적 소견, 검사 소견, 흉부 방사선 소견을 비교하였다. 결 과 : A군과 B군 간의 연령, 성별, 발생시기, 증상 및 청진 소견에서는 유의한 차이는 없었다. 발열기간과 입원기간은 A군이 B군보다 의미있게 길었다.(P<0.001) 적혈구 침강속도는 A군에서 49.6±32.9 mm/hr로, B군의 28.7±20.4 mm/hr보다 의미있게 높았으며(P=0.001), C-반응성 단백은 A군에서 23.0±60.4 mg/dL로, B군의 8.7±30.9 mg/dL보다 의미있게 높았고(P= 0.004), SGOT와 SGPT는 A군이 각각 67±74.2 IU/L와 53.6±60.0 IU/L로, B군의 37.4±18.6 IU/L와 26.2±16.9 IU/L보다 의미있게 높았다. (P<0.001) 늑막 삼출 유무와 항 마이코플라즈마 항체역가 사이의 유의성은 없었다. 결 론 : 늑막 삼출이 동반된 마이코플라즈마 폐렴군에서 발열기간, 입원기간, 적혈구 침강속도, C-반응성 단백, SGOT, SGPT가 늑막 삼출이 동반되지 않은 군에 비해 유의하게 증가되어 있어, 이러한 검사 소견들을 통하여 치료 경과를 예측할 수 있을 것으로 생각한다.

Anorectal Malformations Associated with Esophageal Atresia in Neonates

변신연,임령경,박경희,조용훈,김해영 대한소아소화기영양학회 2013 Pediatric gastroenterology, hepatology & nutrition Vol.16 No.1

Purpose: Anorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system. This study was performed to assess a distinctive feature of cases associated with esophageal atresia. Methods: Clinical data (from January 2000 through December 2011) on the 196 subjects with anorectal malformations, managed in our Hospital, were reviewed. Total 14 neonates were identified with accompanying esophageal atresia and retrospective analysis was conducted. Results: The incidence was 7.1% and there were 8 male and 6 female subjects. Only 2 cases were associated with esophageal atresia without tracheoesophageal fistula. Although variable cases of anorectal malformation in female subjects, almost cases were anorectal malformations with rectourethral fistula in male. Other associated anomalies were identified in all cases, with more than 3 anomalies in 10 cases. There were 4 VACTERL (Vertebral abnormalities, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal and Limb anomalies) associations accounting for 28.6%, but could not identify chromosomal anomaly. Most cases were managed with staged procedure, usually primary repair of esophageal atresia and diverting colostomy. Overall mortality rate was 21.4%, mainly caused by heart problems. Conclusion: This study shows that early diagnosis and rational surgical approach with multidisciplinary plan are mandatory in managing anorectal malformations with esophageal atresia, when considering a high frequency of associated anomaly and a relative high mortality. (Pediatr Gastroenterol Hepatol Nutr 2013; 16: 28∼33)

늑막삼출 유무에 따른 마이코플라즈마 폐렴의 임상 양상의 비교

변신연 ( Shin Yun Byun ),배윤진 ( Yun Jin Bae ),유재호 ( Jae Ho Yoo ),정진아 ( Jin A Jung ) 대한소아알레르기호흡기학회(구 대한소아알레르기 및 호흡기학회) 2006 소아알레르기 및 호흡기학회지 Vol.16 No.4

목적: Mycoplasma pneumoniae는 학동기 소아에서 호흡기 감염의 주된 원인균이며, 마이코플라즈마 폐렴의 호흡기 합병증으로는 무기폐, 늑막 삼출, 폐농양, 폐기종, 기관지 확장증 등이 있다. 이번 연구에서는 마이코플라즈마 폐렴에서 늑막 삼출 유무에 따른 임상 양상의 특징을 비교해보고자 하였다. 방법: 2000년 1월부터 2004년 12월까지 동아대학교의료원 소아과에 입원한 마이코플라즈마 폐렴 환자 210명을 대상으로 입원 기록을 후향적으로 비교분석하였다. 마이코플라즈마 폐렴의 진단기준은 항 마이코플라즈마 항체역가가 1:320 이상인 경우로 하였으며 늑막 삼출을 동반한 경우(A군)와 동반하지 않은 경우(B군)로 나누어 성별, 연령, 발생시기, 증상, 이학적 소견, 검사 소견, 흉부 방사선 소견을 비교하였다. 결과: A군과 B군 간의 연령, 성별, 발생시기, 증상 및 청진 소견에서는 유의한 차이는 없었다. 발열기간과 입원기간은 A군이 B군보다 의미있게 길었다.(P<0.001) 적혈구 침강속도는 A군에서 49.6±32.9㎜/hr로, B군의 28.7±20.4㎜/hr보다 의미있게 높았으며(P=0.001), C-반응성 단백은 A군에서 23.0±60.4㎎/dL로, B군의 8.7±30.9㎎/dL보다 의미있게 높았고(P=0.004), SGOT와 SGPT는 A군이 각각 67±74.2 IU/L와 53.6±60.0 IU/L로, B군의 37.4±18.6 IU/L와 26.2±16.9 IU/L보다 의미있게 높았다. (P<0.001) 늑막 삼출 유무와 항 마이코플라즈마 항체역가 사이의 유의성은 없었다. 결론: 늑막 삼출이 동반된 마이코플라즈마 폐렴군에서 발열기간, 입원기간, 적혈구 침강속도, C-반응성 단백, SGOT, SGPT가 늑막 삼출이 동반되지 않은 군에 비해 유의하게 증가되어 있어, 이러한 검사 소견들을 통하여 치료 경과를 예측할 수 있을 것으로 생각한다. Purpose: Mycoplasma pneumoniae (M. pneumoniae) is a major cause of respiratory infections in school-aged children. Complications of M. pneumoniae pneumonia include atelectasis, pleural effusion, empyema, pneumothorax and bronchiectasis. We evaluated the clinical characteristics of M. pneumoniae pneumonia with pleural effusion. Methods: A total of 210 medical records of children who were admitted to the Dong-A University hospital due to M. pneumoniae pneumonia from 2000 to 2004 were retrospectively analyzed. Diagnosis of M. pneumoniae pneumonia was based on the single titer of antimycoplasmal antibody higher than 1:320. Enrolled children were divided into Group A (with pleural effusion) and Group B (without effusion). We analysed the differences between the two groups according to sex, age, onset, symptoms, clinical manifestations, laboratory findings and chest x-rays. Results: There were no significant differences in age, sex and clinical manifestations between the two groups. Group A had longer fever durations (9.3±7.8 days vs 5.0±3.7 days), and a longer duration of hospitalization (10.4±6.3 days vs 6.9±6.3 days) compare to Group B. Also, compared to the Group B, Group A had higher ESR (49.6±32.9㎜/hr vs 28.7±20.4㎜/hr), CRP (23.0±60.4㎎/dL vs 8.7±30.9㎎/dL), SGOT (67±74.2 IU/L vs 53.6±60.0 IU/L), SGPT (37.4±18.6 IU/L vs 26.2±16.9 IU/L). There was no significance between antimycoplasmal antibody titer and pleural effusion. Conclusion: This study shows that M. pneumoniae pneumonia with pleural effusion has a longer duration of fever and hospitalization, higher ESR, CRP, SGOT, SGPT compare to the M. pneumoniae pneumonia without pleural effusion. We conclude that these findings could be used as the prognostic factors in M. pneumoniae pneumonia with pleural effusion. [Pediatr Allergy Respir Dis(Korea) 2006;16:327-334]

A Case of Congenital Infantile Fibrosarcoma of Sigmoid Colon Manifesting as Pneumoperitoneum in a Newborn

김해영,변신연,조용훈,박경희 대한의학회 2013 Journal of Korean medical science Vol.28 No.1

Congenital infantile fibrosarcoma (CIF) is a rare soft-tissue tumor in the pediatric age group and seldom involves the gastrointestinal tract. A 2-day-old boy was transferred to our hospital with a pneumpoperitoneum. After emergency operation, we could find a solid mass wrapping around a sigmoid colon and performed a segmental resection of sigmoid colon including a mass. Histopathologic examination showed an infantile fibrosarcoma origining from the muscular layer of colon. The baby was discharged on the 17th hospital day and followed for 1 yr without recurrence.

선천성 갈락토스혈증으로 오인된 신생아 간 내 혈관내피종 1례

임령경,변신연,박성식,김영돈 대한신생아학회 2010 Neonatal medicine Vol.17 No.1

Galactosemia is a group of inherited enzyme deficiencies characterized by increase in the blood galactose levels. This condition may be associated with deficiencies of galactose-1- phosphate uridyl transferase, galactokinase, or uridine diphosphate galactose-4-epimerase. However, the elevated galactose identified by neonatal screening tests has several other possible etiologies, including hepatic hemangioendothelioma, hepatic hemangioma, and patent ductus venosus with hypoplasia of the portal vein. We report a 13-day-old Korean mail with hepatic hemangioendothelioma, which was incidentally detected during the evaluation for suspected galactosemia. Laboratory studies revealed that mildly elevated levels of galactose, galactose-1-phosphate and alpha- fetoprotein, at the time of admission, were gradually decreased to the normal range over the 6 months of observation. Ultrasonography showed a well-defined heterogeneous hypoechoic mass in the liver, and magnetic resonance imaging study showed multiple enhanced mass lesions, which was compatible with the diagnosis of a hepatic hemangioendothelioma. Thus, hepatic imaging, especially ultrasonography, should be performed if neonatal screening suggests galactosemia. 신생아 선천성 대사이상 선별검사에서 갈락토스혈증이 의심되는 경우, 혈관내피종과 같은 간 실질 내 종양을 동반할 수 있으므로 갈락토스혈증 관련 효소검사와 함께 간초음파 검사와 같은 영상학적 진단법, 총담즙산, AFP 등의 측정을 병행하여야 원인감별에 도움이 된다. 저자들은 신생아 선천성 대사이상 질환 선별검사에서 갈락토스혈증이 의심되었던 생후 13일된 영아에 대하여 원인을 조사하던 중 복부초음파 검사에서 간 내 혈관내피종을 발견된 1례를 경험하였기에 이에 보고하는 바이다.

A Case of Schinzel-Giedion Syndrome

박경희,변신연,황상현 대한신생아학회 2013 Neonatal medicine Vol.20 No.1

Schinzel-Giedion syndrome (SGS) is a rare malformation syndrome characterized by severe midface retraction, multiple congenital malformations including hydronephrosis, congenital heart defect, skeletal anomalies and hypertrichosis, and a higher prevalence of tumors. We experienced a case of a male newborn with SGS showing midface retraction with infraorbital deep groove, hypospadia, bilateral hydronephrosis, and hypotonia. At the age of 2 months, hepatosplenogmegaly with unknown cause appeared. There was no evidence of hepatoblastoma in abdominal computed tomography. SGS is known to have an autosomal recessive inheritance pattern. Recently, it has been suggested that de novo mutations of SETBP1 causes SGS. However, there has been no report regarding the genetic analysis of SGS in the Korean population. We first sequenced the exones using array CGH and SETBP1 gene analysis in Korea. However, no specific gene mutation was apparent.

Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3

김영진,변신연,조선아,신용범,조은해,이은엽,황상현 대한진단검사의학회 2011 Annals of Laboratory Medicine Vol.31 No.1

Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. The proband presented with facial dysmorphism, arthrogryposis, and intrauterine growth retardation. Most cases of Miller-Dieker syndrome have a de novo deletion involving 17p13.3. When Miller-Dieker syndrome is caused by an unbalanced translocation, mild-to-severe phenotypes occur according to the extension of the involved partner chromosome. However, a pure partial monosomy derived from a paternal balanced translocation is relatively rare. In this case, the submicroscopic cryptic deletion in the proband was initially elucidated by FISH, and karyotype analysis did not reveal additional chromosome abnormalities such as translocation. However, a family history of recurrent pregnancy abnormalities strongly suggested familial translocation. Sequential G-banding and FISH analysis of the father’s chromosomes showed that the segment of 17p13.3→pter was attached to the 12qter. Thus, we report a case that showed resemblance to the findings in cases of a nearly pure 17p deletion, derived from t(12;17), and delineated by whole genome array comparative genomic hybridization (CGH). If such cases are incorrectly diagnosed as Miller-Dieker syndrome caused by de novo 17p13.3 deletion, the resultant improper genetic counseling may make it difficult to exactly predict the potential risk of recurrent lissencephaly for successive pregnancies. (Korean J Lab Med 2011;31:49-53)

극소 저체중출생아에서 대사성 골질환 발생의 생화학적 예측 인자

김묘징,김미진,변신연,이혜진,유재호 대한소아내분비학회 2010 Annals of Pediatirc Endocrinology & Metabolism Vol.15 No.1

Purpose: The aim of present study was to assess the utility of serum biochemical markers for predicting the metabolic bone disease (MBD) in very low birth weight infants (VLBWI). Methods: Medical records of 104 VLBWI from 2003 to 2008 were reviewed in this retrospective study. Study patients were divided in MBD and control group according to the finding of wrist radiography performed at 4 weeks of life. We compared the serum biochemical markers including alkaline phosphate (ALP), calcium (Ca), phosphate (P) between two groups at birth, 1 and 4 weeks of life. The value of serum vitamin D (Vit. D) was measured at 4-5 weeks of life. Results: The mean gestational age and birth weight of study patients were 30+6±2.0 weeks and 1,308.2±136.7 g. The incidence of MBD was 28.9% (31/104). At birth, higher values of serum ALP (438.1±129.1 mg/dL vs 360.5±122.8 mg/dL) were found in MBD group. At 1 week of life, higher values of serum Ca (11.0±1.7 mg/dL vs 10.3±1.7 mg/dL) and lower values of serum P (3.2±1.2 mg/dL vs 4.1±1.3 mg/dL) were found in MBD group. At 4 weeks of life, higher values of serum ALP activities (1,397.6±635.6 U/L vs 789.0±573.0 U/L), lower values of serum P (4.2±2.0 mg/dL vs 5.4±1.8 mg/dL) and Vit. D (17.7±7.2 ng/mL vs 30.0±15.5 ng/mL) were found in MBD group. Risk factors of MBD were male and Vit. D deficiency with high ALP at 4 weeks of life. Conclusion: These results suggest that high ALP concentrations at 4 weeks of life may predict MBD with Vit. D deficiency in VLBWI. 목 적: 최근 극소 저체중출생아들의 생존율이 증가하면서 대사성 골질환의 유병률도 증가하는 추세이다. 이에 저자들은 미숙아 대사성 골질환을 예측하는 인자로써 출생 후 시기에 따른 혈청 생화학 검사의 유용성을 알고자 하였다. 방 법: 2003년 3월부터 2008년 12월까지 일신 기독 병원 신생아 집중 치료실에 입원하였던 출생체중 1500 g 미만 환아들을 대상으로 의무 기록지를 통해 후향적으로 분석하였다. 생후 4주에 손목의 단순 방사선 촬영을 통해 대사성 골질환군과 대조군을 설정하였다. 생화학 검사로 ALP, 인, 칼슘을 출생 첫날, 생후 일주일째, 생후 4주째 검사하여 비교하였다. 비타민 D는 생후 4-5주에 측정하였다. 결 과: 대상 환아 104명의 평균 재태주수와 출생체중은 30+6±2.0주, 1,308.2±136.7 g이었다. 전체 대상군 중 31 (29.8 %)명에서 대사성 골질환이 발생하였다. 생후 첫날 실시한 생화학 검사에서 대사성 골질환군은 ALP (438.1±129.1 U/L vs 360.5±122.8 U/L)가 증가하여 있었다(P˂0.05). 생후 일주일째 생화학 검사에서 대사성 골질환군은 칼슘(11.0±1.7 mg/dL vs 10.3±1.7 mg/dL)은 증가하여 있었고, 인(3.2±1.2 mg/dL vs 4.1±1.3 mg/dL)은 감소하여 있었다(P˂0.05). 출생 4주째 실시한 생화학 검사에서 대사성 골질환군의 ALP (1397.6±635.6 U/L vs 789.0±573.0 U/L)는 증가하여 있었고(P˂0.05), 인(4.2 ±2.0 mg/dL vs 5.4±1.8 mg/dL)과 비타민 D (17.7±7.2 ng/mL vs 30.0±15.5 ng/mL)는 감소하여 있었다(P˂0.05). 대사성 골질환 발생의 위험 인자를 평가하기 위해 실시한 로지스틱 회귀분석에서 대사성 골질환은 남아, 출생체중이 작은 경우, 진단 시점까지 총 정맥 영양 기간이 긴 경우 발생이 많았다. 생화학 검사에서 생후 4주째 비타민 D 결핍이 있는 경우 대사성 골질환의 발생이 증가하였고, 이는 생후 4주째 ALP 수치 증가와 일치하는 양상을 보였다. 결 론: 극소 저체중출생아에서 대사성 골질환은 높은 빈도를 보였다. 생후 4주째 ALP 수치가 증가하여 있는 극소 저체중출생아에서 비타민 D 결핍과 대사성 골질환의 발생에 대한 주의를 기울이고, 적극적인 의학적 개입이 필요하리라 생각된다.

A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

권경아,박수은,변신연,김신영,황상현 대한의학회 2010 Journal of Korean medical science Vol.25 No.8

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.