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

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*

Our purpose was to compare the safety and efficacy of intravaginal misoprostol versus dinoprostone vaginal tablet for induction of labor at term pregnancies. Two hundred three patients with indications for induction of labor at term were randomly assigned to receive either intravaginal misoprostol or dinoprostone vaginal tablet. Fifty micrograms of misoprostol was placed in the posterior vaginal fornix every six hours, with a potential maximum of four doses. 3 milligrams of dinoprostone vaginal tablet was placed in the posterior vaginal fornix every eight hours, with a potential maximum of three doses. Further medication was withheld with the occurrence of spontaneous rupture of membrane, entry into adequate contraction pattern(twenty second sustained with two or more frequent uterine contraction in 10 minutes), nonreassuring FHR tracing, or delivery. Artificial membrane rupture with both study protocol was done at the discretion of the attending physician. After membrane rupture, in the cases of failure of active labor or arrest of dilation, oxytocin was administerated. Among those evaluated, 100 received misoprostol and 102 received dinoprostone. The average interval from start of induction to vaginal delivery was shorter in the misoprostol group(784.7 +/- 389.3 min) than in the dinoprostone group(988.3 +/- 369.5 min)(p<0.01). There was no significant difference in change of Bishop score between the two groups. No statistically significant differences were noted between two groups in case of need for oxytocin and oxytocin total dose, but significant difference was noted between two groups in case of indication for oxytocin augmentation. There were no significant differences in the routes of delivery. Intravaginal administration of misoprostol appears to be as effective as dinoprostone vaginal tablet for labor induction at full term pregnancies. Complications associated with prostaglndin administration were not statistically different between the two treatment groups.
Administration, Intravaginal ; Dinoprostone* ; Humans ; Membranes ; Membranes, Artificial ; Misoprostol* ; Oxytocin ; Pregnancy* ; Rupture ; Rupture, Spontaneous ; Uterine Contraction ; Vaginal Creams, Foams, and Jellies*

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

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

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

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