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

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

PURPOSE: The usefulness and radiographic findings of the angiography in cerebral infarction are well known. We attempted to evaluate the anglographic causes, findings, and the usefulness of DSA in cerebral infarction. MATERIALS AND METHODS: The authors reviewed retrospectively DSA images of 51 patients who were diagnosed as having cerebral infarction by brain CT and/or MRI and clinical settings. DSA was performed in all 51 patients, and in 3 patients, conventional anglogram was also done. Both carotid DSA images were obtained in AP, lateral, oblique projections, and one or both vertebral DSA images in AP and lateral. The authors reviewed the patient's charts for symptoms, operative findings and final diagnosis, and analysed DSA findings of cerebral atherosclerosis with focus on 6 major cerebral arteries. RESULTS: Among the 51 patients of cerebral infarction 43 patients(84.3%) had cerebral atherosclerosis, 1 dissecting aneurysm, 1 moyamoya disease and 6 negative in anglogram. DSA findings of cerebral atherosclerosis were multiple narrowings in 42 patients(97,7%), tortuosity in 22(51.2%), dilatation in 14, occlusion in 12, avascular region in 8, collaterals in 7, ulcer in 6, and delayed washout of contrast media in 3. In cerebral atherosclerosis, internal carotid artery was involved in 37 patients(86.0%), middle cerebral artery in 29(67.4%), posterior cerebral artery in 28, anterior cerebral artery in 26, vertebral artery in 22, and basilar artery in 15. Intracranial involvement of cerebral atherosclerosis (64.9%) was more common than extracranial involvement(16.2%). CONCLUSION: In cerebral infarction MRA may be the screening test, but for more precise evaluation of vascular abnormality and its extent, DSA should be considered.
Aneurysm, Dissecting ; Angiography ; Angiography, Digital Subtraction* ; Anterior Cerebral Artery ; Basilar Artery ; Brain ; Carotid Artery, Internal ; Cerebral Arteries ; Cerebral Infarction* ; Contrast Media ; Diagnosis ; Dilatation ; Humans ; Intracranial Arteriosclerosis ; Magnetic Resonance Imaging ; Mass Screening ; Middle Cerebral Artery ; Moyamoya Disease ; Posterior Cerebral Artery ; Retrospective Studies ; Ulcer ; Vertebral Artery

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

Congenital epulis is a rare benign tumor occurring on the anterior maxillary gingiva, also known as granular cell tumor of the newborn or Neumann's tumor, which is seen only in the newborn and is different from other granular cell tumors. Congenital epulis occurs exclusively in female newborns eight to ten fold higher than in males. It can protrude out of the newborn's mouth to prevent normal closure of mouth and interfere with respiration or feeding. The treatment of choice for large symptomatic epulis is simple surgical resection. Wide surgical excision is not required, because no recurrences have been reported. This report describes a case of congenital epulis occurring on the mandibular gingiva, and typical immunohistochemical stain findings.
Female ; Gingiva ; Gingival Diseases ; Gingival Neoplasms ; Granular Cell Tumor ; Humans ; Infant, Newborn ; Male ; Mouth ; Recurrence ; Respiration

PURPOSE: This study investigated the effects of early enteral feeding on the morbidities of extremely low birth weight infants (ELBWI) weighing less than 1,000 g. METHODS: We conducted a retrospective review of the medical records of sixty one ELBWI who were admitted to the neonatal intensive care unit of Inje University Busan Paik Hospital from January 2007 to October 2009. ELBWI were divided into two groups; the control group included ELBWI from January 2007 to March 2008, for whom enteral feeding was started beyond 3 days and the early feeding group included ELBWI from April 2008 to October 2009, for whom enteral feeding was started within 3 days. RESULTS: Gestational age and birth weight did not differ between the two groups. In the early feeding group, start day of enteral feeding (control group vs. early feeding group; 7+/-2days vs. 2+/-1days), time to achieve full enteral feeding (68+/-6 days vs. 22+/-2 days), and the duration of parenteral nutrition (58+/-6 days vs. 22+/-2 days) were significantly shorter, and weight gain at postnatal day 28 was significantly higher than that of the control group (P<0.001). No differences were observed in the incidence of sepsis and necrotizing enterocolitis and duration of hospitalization; however, the incidence of total parenteral nutrition induced cholestasis (44% vs. 7%) and bronchopulmonary dysplsia (78% vs. 24%) was significantly lower in the early feeding group. CONCLUSION: Early enteral feeding in ELBWI shortened the time to achieve full enteral feeding, improved weight gain, and decreased the incidence of brochopulmonay dysplasia and cholestasis.
Birth Weight ; Cholestasis ; Enteral Nutrition ; Enterocolitis, Necrotizing ; Gestational Age ; Humans ; Incidence ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Intensive Care, Neonatal ; Medical Records ; Parenteral Nutrition ; Parenteral Nutrition, Total ; Retrospective Studies ; Sepsis ; Weight Gain

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: 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*