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

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: Thyroid dysfunction is common in preterm infants. Congenital hypothyroidism causes neurodevelopmental impairment, which is preventable if properly treated. This study was conducted to describe the characteristics of thyroid dysfunction in very low birth weight infants (VLBWIs), evaluate risk factors of hypothyroidism, and suggest the reassessment of thyroid function with an initially normal thyroid-stimulating hormone (TSH) as part of a newborn screening test. METHODS: VLBWIs (January 2010 to December 2012) were divided into two groups according to dysfunction-specific thyroid hormone replacement therapy, and associated factors were evaluated. RESULTS: Of VLBWIs, 246 survivors were enrolled. Only 12.2% (30/246) of enrolled subjects exhibited thyroid dysfunction requiring thyroid hormone replacement. Moreover, only one out of 30 subjects who required thyroid hormone treatment had abnormal thyroid function in the newborn screening test with measured TSH. Most of the subjects in the treatment group (22/30) exhibited delayed TSH elevation. Gestational age, Apgar score, antenatal steroids therapy, respiratory distress syndrome, patent ductus arteriosus, sepsis, intraventricular hemorrhage, postnatal steroids therapy, and duration of mechanical ventilation did not differ between the two groups. Birth weight was smaller and infants with small for gestational age were more frequent in the treatment group. CONCLUSION: Physicians should not rule out suggested hypothyroidism, even when thyroid function of a newborn screening test is normal. We suggest retesting TSH and free thyroxine in high risk preterm infants with an initially normal TSH level using a newborn screening test.
Apgar Score ; Birth Weight ; Congenital Hypothyroidism ; Ductus Arteriosus, Patent ; Gestational Age ; Hemorrhage ; Hormone Replacement Therapy ; Humans ; Hypothyroidism ; Infant ; Infant, Newborn ; Infant, Premature* ; Infant, Very Low Birth Weight* ; Mass Screening ; Neonatal Screening ; Respiration, Artificial ; Respiratory Therapy ; Risk Factors ; Sepsis ; Steroids ; Survivors ; Thyroid Function Tests ; Thyroid Gland* ; Thyrotropin ; Thyroxine

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*

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

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: 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

BACKGROUND AND OBJECTIVES: We report our initial experience with percutaneous transvenous closure of atrial septal defects (ASD). MATERIALS AND METHOD: Between September 1997 and May 2000, we attempted transcatheter closure of ASD in 18 patients using CardioSEALTM (8), STARFlexTM (4) and Amplatzer septal occluder (6). The ages of patients ranged from 4.5-64.8 (mean 32.8) years, body weight ranging from 16-76 (mean 51) kg, Qp/Qs ratio from 1.3-3.4 (mean 2.2). RESULTS: Embolization of device occurred in two patients; right pulmonary artery in one and left atrium in the other. In one patient, the device slipped into the right atrium before detachment. After retrieval of the device, the defect seemed too large for transcatheter closure. There were no other complications apart from a transient aggravation of pre-existing atrial premature beats in two patients. There was no significant size difference between the data measured by transthoracic and transesophageal echocardiography. The stretched ASD diameter was larger (5.1 3.2 mm) than the size measured by transesophageal echocardiography. In the remaining 15 patients, complete closure of defects was confirmed by transthoracic echocardiography on the 1 day or 1 month follow-up. During the same period, transcatheter closure of patent foramen ovale(PFO) was also attempted in 7 patients with stroke. The guidewire could not be passed in 2 of the patients. In the other 5 patients, transcatheter closure was successfully performed without any problems. Though the follow-up period may have been short, no patients were found with further stroke attack. CONCLUSION: Transcatheter closure of ASD can be performed with high efficiency and safety if patient selection is adequate. The indication for ASD closure can be extended to patients with larger defects. Transcatheter closure of PFO is an easy and safe procedure, but the indications of PFO closure in patients with stroke is still unclear. Further evaluation is necessary for long-term results.
Body Weight ; Cardiac Complexes, Premature ; Echocardiography ; Echocardiography, Transesophageal ; Follow-Up Studies ; Heart Atria ; Heart Septal Defects, Atrial* ; Humans ; Patient Selection ; Pulmonary Artery ; Septal Occluder Device ; Stroke

Diffuse neonatal hemangiomatosis (DNH) is characterized by multiple capillary or cavernous hemangiomas on the skin and internal organs occurring during the neonatal period. It is a life-threatening condition due to high-output heart failure with a mortality rate of 60-85% without proper treatment. The areas that are most commonly involved include the skin (100%), liver (64-100%), and central nervous system (52%). Corticosteroids are the drugs of choice as an initial treatment and have a response rate of 30-60%. We present here a case of a newborn baby with multiple hemangiomas on her skin (scalp, lips, neck, back, shoulder, arm, buttock, and leg), brain (right cerebellum, pons, and medulla oblongata), lungs, liver, kidney, and bones. She suffered from 6th, 7th, 9th, 10th, and 12th cranial nerve palsy resulting from hemorrhage of the hemangiomas in the brain. The first-line treatment of prednisolone (4 mg/kg/day) was not effective and propranolol (2 mg/kg/day) was administered as a second-line treatment. After 2 weeks of treatment, the hemangiomas had decreased in size with no associated acute hemorrhage. The infant is now 10 months old and both the multiple hemangiomas and cranial nerve palsy have improved. Propranolol was effective without significant adverse effects in treating DNH resistant to corticosteroids.
Abducens Nerve Diseases ; Adrenal Cortex Hormones ; Arm ; Brain ; Buttocks ; Capillaries ; Central Nervous System ; Cerebellum ; Cranial Nerve Diseases* ; Cranial Nerves* ; Facial Paralysis ; Heart Failure ; Hemangioma ; Hemangioma, Cavernous ; Hemorrhage ; Humans ; Infant ; Infant, Newborn ; Kidney ; Lip ; Liver ; Lung ; Mortality ; Neck ; Pons ; Prednisolone ; Propranolol* ; Shoulder ; Skin