This is a case report of a cystic hygroma with polycystic kidney in a fetus which was suspected by ultrasonography and was confirmed by autopsy. Recently, we have experienced this case in 25-year old woman repeatedly and we report that with a brief review of relevant literature.
Adult ; Autopsy ; Female ; Fetus ; Humans ; Lymphangioma, Cystic* ; Polycystic Kidney Diseases* ; Ultrasonography

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the FGFR2 gene associated with a coccygeal anomaly, which is rare in Pfeiffer syndrome.
Acrocephalosyndactylia ; Craniosynostoses ; Live Birth ; Molecular Biology ; Receptor, Fibroblast Growth Factor, Type 1 ; Receptor, Fibroblast Growth Factor, Type 2 ; Thumb ; Toes

PURPOSE: The purpose of this study was to identify factors influencing premature infants who are small for their gestational ago. METHODS: The medical records of 1,010 premature infants of 26 to 35 weeks of gestational age born at Il-Sin Christian Hospital, Busan from January 2000 to August 2006 were reviewed. We collected data on gestational age, birth weight, infant gender, birth order, maternal age and previous abortion history and analyzed the factors influencing premature infants who were small for their gestational ago at birth. RESULTS: In our study more female than male (P=0.042) in premature infants who were small for their gestational ago were born from mothers aged younger than 20 or older than 35 (P=0.041). But association between smallness for gestational age and birth order or maternal previous abortion history was statistically insignificant (P=0.228, P=0.129). CONCLUSION: Considering the association of birth weight and the survival rate of premature infants, it is thought that maternal age had an influence on the survival rate of premature infants. Social and political support to lower the teenager pregnancy and older pregnancy is expected to increase the survival rate of premature infants and the birth of healthy normal neonates.
Abortion, Induced ; Adolescent ; Birth Order ; Birth Weight* ; Busan ; Female ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Male ; Maternal Age ; Medical Records ; Mothers ; Parturition* ; Pregnancy ; Survival Rate

PURPOSE: Urinary tract infection (UTI) is a common bacterial infectious disease in childhood. Especially UTI in infant and young children is associated with urinary tract anomalies such as hydronephrosis, vesicoureteral reflux. The aim of this study was to compare the clinical and laboratory characteristics, and uroradiologic findings of UTI caused by pathogens other than E. coli with UTI caused by E. coli in infant and young children. METHODS: We retrospectively reviewed medical records of 170 infants and children, who had been admitted for UTI to Il Sin Christian Hospital from January 2003 to December 2005. All patients were divided into two groups; E. coli and non-E. coli UTI, and they were compared for demographic data, clinical data (degree and duration of fever, time to defervescence, and length of hospital stay), underlying urinary tract anomalies (by history and ultrasonography), recurrent infection (by history and past medical records), and laboratory data [urinalysis, white blood cells (WBC) count in peripheral blood, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum creatinine level]. RESULTS: Of the 170 UTI patients, the number of non-E. coli UTI was 114 (67.1%) and E. coli UTI was 56 (32.9%). As compared to E. coli group, non-E. coli group was younger in age (0.52+/-0.59 years vs 0.84+/-1.39years, P<0.05), had higher rates of urinary tract anomalies [n=46 (82.1%) vs n=53 (46.5%), P<0.001], higher recurrence rate, shorter time to defervescence, less peripheral blood WBC count, lower level of CRP, lower level of ESR. CONCLUSION: The characteristics of non-E. coli UTI compared to E. coli UTI was younger age, milder clinical symptoms and signs, higher rates of urinary tract anomalies and higher recurrence rate.
Blood Sedimentation ; C-Reactive Protein ; Child ; Communicable Diseases ; Creatinine ; Fever ; Humans ; Hydronephrosis ; Infant ; Leukocytes ; Medical Records ; Recurrence ; Retrospective Studies ; Urinary Tract Infections* ; Urinary Tract* ; Vesico-Ureteral Reflux

PURPOSE: In this study, the risk factors of failure of ibuprofen treatment in preterm infants with hemodynamically significant patent ductus arteriosus (hsPDA) were investigated. METHODS: Among 403 preterm infants (<32 weeks gestation) born between January 2010 and December 2012, 125 infants treated with ibuprofen for hsPDA were retrospectively reviewed. The preterm infants were divided into the following groups according to their response to the 1st and 2nd cycles of ibuprofen treatment: responder groups I and II, closure of the ductus arteriosus after the 1st and 2nd cycles of ibuprofen treatment; and non-responder groups I and II, persistency of hsPDA after the 1st and 2nd cycles of ibuprofen treatment. RESULTS: One hundred twenty five infants were enrolled in the study: 74 in responder group I, 51 in non-responder group I, 14 in responder group II, and 22 in non-responder group II. In non-responder group I, the gestational age and birth weight were smaller, the postnatal steroid treatment was more frequent, and the duration of mechanical ventilation and the days spent in the hospital were prolonged.I n non-responder group II, the gestational age and birth weight were smaller, the diameters of the ductus arteriosus were larger, and the inotropics use was more frequent. CONCLUSION: Failure of ibuprofen treatment of hsPDA is associated with the diameter of the ductus arteriosus and with inotropics use. Obtaining data regarding these is expected to help in determining if early direct surgical ligation is needed.
Birth Weight ; Ductus Arteriosus ; Ductus Arteriosus, Patent* ; Gestational Age ; Humans ; Ibuprofen* ; Infant ; Infant, Newborn ; Infant, Premature* ; Ligation ; Respiration, Artificial ; Retrospective Studies ; Risk Factors*

PURPOSE: The anthropometric data of newborns published by Lubchenco et al in the 1960's have been most commonly used in Korea as a standard of newborn growth. We hypothesized that Lubchenco's data have limitations for Korean premature infants born in the 2000's. We analyzed and compared the data of birth weight, length, and head circumference. METHODS: The medical records of 1,159 premature infants of 26 to 35 weeks of gestational age born at Il-Sin Christian Hospital of Busan from January 2,000 to August 2,006 were reviewed. The anthropometric data from total 1,010 premature infants were analyzed after excluding the data from infants whose gestational age were estimated by other than ultrasonogram, and infants with major congenital anomalies or chromosomal anomaly, born from foreign parent, and extreme outliers. RESULTS: In the birth weights by gestational age, our 90 percentile values were lower than Lubchenco's 90 percentile values for all gestational age studied, particularly for less than 30 weeks the 90 percentile curve was drawn at the area as that of Lubchenco' 75 percentile. And our 10 percentile values were higher than Lubchenco's 10 percentile values for all gestational age studied. In the birth length and head circumference by gestational age, our 90 percentile values were lower than Lubchenco's 90 percentile values for all gestational age studied, and the 90 percentile curve was drawn at the area as that of Lubchenco's 75 percentile. And our 10 percentile values were higher than Lubchenco's 10 percentile values for all gestational age studied. CONCLUSION: It is unreasonable to apply Lubchenco's data published before 4th decades to present Korean premature infants and have a risk to underestimate intrauterine growth retardation or small for gestational age and large for gestational age. Considering for the possibility of increasing the mortality and morbidity of premature infants due to delayed diagnosis and treatment by these underestimating, our anthropometric data of premature infant is expected to contribute to lower the mortality and morbidity of premature infants.
Birth Weight ; Busan ; Delayed Diagnosis ; Fetal Growth Retardation ; Gestational Age ; Head ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Korea ; Medical Records ; Mortality ; Parents ; Parturition ; Pregnancy* ; Ultrasonography

Cutaneous lung tissue heterotopia is a very rare disorder where mature lung tissues develop in the skin. This is only the second known report of cutaneous lung tissue heterotopia, with the first by Singer et al. in 1998. A newborn infant had a hemangioma-like, freely movable mass connected to the anterior aspect of the sternal manubrium. Pathologic findings showed mature lung tissues with bronchi, bronchioles, and alveoli through the dermis and subcutis, and it was diagnosed as cutaneous lung tissue heterotopia. Cutaneous lung tissue heterotopia is hypervascular, so grossly it looks like a hemangioma. It can be differentiated from pulmonary sequestration, teratoma, bronchogenic cyst, and branchial cleft cyst by histology and the location of the mass. We describe the clinical, radiologic, and pathologic findings of a cutaneous lung tissue heterotopia, the first reported in Korea.
Branchioma/pathology/surgery ; Bronchogenic Cyst/pathology/surgery ; Choristoma/*pathology/surgery ; Humans ; Infant, Newborn ; *Lung ; Magnetic Resonance Imaging ; Male ; Republic of Korea ; Skin Diseases/*pathology/surgery ; Skin Neoplasms/pathology ; Tomography, X-Ray Computed

PURPOSE: To describe plain radiographic and thin-section CT findings of hematogenous candida pneumonia in major burn patients. MATERIAL AND METHOD: We reviewed nine cases of hematogenous candida pneumonia in major burn patients who had positive blood culture for candida and findings of pneumonia on plain chest radiograph. On five of nine cases, thin-section CT was done. We evaluated retrospectively nine cases for onset, the pattern, distribution, and size of lesions on plain chest radiograph and thin-section CT. RESULTS: On plain chest radiograph, randomly distributed 2-10mm nodules were seen in six cases(66%) and randomly distributed 10-15mm consolidations in remaining three cases{33% ). Lesion occured in 11th to 75th post-burn day{average, 34th post-burn day). Other findings were cardiomegaly in three cases, atelectasis in three cases, and pulmonary edema in one case. Thin-section CT showed variable shaped subpleural nodules in all five cases. The size of nodules were 1-5mm in two cases(40%) and 5-10mm(60% ) in three cases. Feeding vessel signs were seen in two cases. Other findings were atelectasis in three cases, cardiomegaly in three cases, ground-glass opacity and interlobular septal thickenings by pulmonary edema in two cases. CONCLUSION: Plain chest radiographic findings of hematogenous candida pneumonia in major burn patients are randomly distributed nodules or consolidations of variable size. Thin-section CT findings are variable shaped subpleural nodules less than 1 cm.
Burns* ; Candida* ; Cardiomegaly ; Humans ; Pneumonia* ; Pulmonary Atelectasis ; Pulmonary Edema ; Radiography, Thoracic* ; Retrospective Studies ; Thorax*

Vertebral, anal, cardiac, tracheo-esophageal, renal, and limb(VACTERL) association is defined as the presence of at least three of the above-mentioned six manifestations. An estimated incidence of the VACTERL association is 1 in 20,000 to 35,000 live births although the diagnostic criteria vary. The VACTERL association is highly heterogeneous in clinical presentation. It may represent a spectrum from the less severely affected to the more severely affected. Diagnosis is difficult because of the number of disorders that have overlapping features with trisomy 13 syndrome, trisomy 18 syndrome, trisomy 21 syndrome, Feingold syndrome, and so on. The incidence of trisomy 18 syndrome, a type of a chromosomal disorder, is estimated to be 1 in 6,000-8,000 live births. It includes characteristic craniofacial anomalies, clenched hand with overlapping of index finger over third, fifth finger over fourth, underdeveloped thumbs, short sternum, cardiac anomalies such as ventricular septal defect, and renal anomalies such as horseshoe kidney. Approximately over 50% of infants with trisomy 18 syndrome live less than one week. In 1983, Khoury et al. reported VACTERL association combined with trisomy 18 syndrome. Here, we report a case of a low birth weight female infant with VACTERL association, whose second diagnosis is Edward syndrome, and that she also has another combined anomaly, meningomyelocele. To the best of our knowledge, this is the first reported case of VACTERL association with meningomyelocele combined with trisomy 18 syndrome in Korea.
Chromosome Disorders ; Diagnosis ; Down Syndrome ; Female ; Fingers ; Hand ; Heart Septal Defects, Ventricular ; Humans ; Incidence ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Kidney ; Korea ; Live Birth ; Meningomyelocele* ; Sternum ; Thumb ; Trisomy*

PURPOSE: With the increasing use of antenatal sonography, fetal hydronephrosis has been reported more frequently. But, despite extensive clinical and scientific research much controversy still exists about the assessment and management of hydronephrosis. We performed a retrospective study to determine the frequency of associated malformations and chromosomal defects in prenatally diagnosed hydronephrosis. METHODS: The records of 297 neonates who were diagnosed with hydronephrosis through antenatal ultrasonographic screening, were retrospectively analyzed. They were confirmed at 3 days to 1 month after birth with postnatal ultrasonography in Busan Paik Hospital, between January 2000 and December 2008. We karyotyped 297 neonates after ultrasonographic examination revealed hydronephrosis and malformations. RESULTS: Chromosomal abnormalities were detected in 31 (11%) cases of 297 cases and more common in female than male. The commonest chromosomal abnormality was trisomy 21, followed by Turner syndrome, deletion of autosome, unbalanced translocation. 127 cases in 109 infants had associated malformations such as urogenital and cardiovascular and gastrointestinal anomalies. The associated malformations were more common in moderate to severe hydronephrosis than mild and the number of additional abnormalities increased with the chromosomal defects. CONCLUSION: Particular attention should be paid for the cases in congenital hydronephrosis with any associated malformation such as urogenital and cardiac malformation, to investigate chromosomal abnormalities. This will enable clinicians to establish appropriate management and postnatal care.
Chromosome Aberrations ; Down Syndrome ; Female ; Humans ; Hydronephrosis ; Infant ; Infant, Newborn ; Male ; Mass Screening ; Parturition ; Postnatal Care ; Retrospective Studies ; Turner Syndrome