Incidentally Diagnosed Duodenal Web in Infancy

A duodenal web is an incomplete diaphragm of the duodenal lumen that causes a partial or (intermittent) complete obstruction. The size of a duodenal web’s aperture determines the degree of obstruction, age at presentation, and radiologic findings. We report a case of duodenal web incidentally diagnosed in a 14-month-old boy who presented to the hospital after ingesting a foreign body. We provide a comprehensive report of multiple studies through abdominal radiograph, upper gastrointestinal study, endoscopy, and surgical findings. We emphasize that the duodenum should be considered as the location of the obstruction when infants exhibit delayed discharge or dynamic positioning of a foreign body in a radiologic examination.

RASA1-Related Parkes Weber Syndrome in a Neonate

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

Prenatal diagnosis of aberrant right subclavian artery in an unselected population

PURPOSE: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other congenital anomalies. METHODS: In all, 7,547 fetuses (gestational age, 20 to 34 weeks) were examined using routine antenatal sonography at our institution between April 2014 and September 2015. The right subclavian artery was assessed using grayscale and color Doppler ultrasonography in the transverse 3-vessel and tracheal view, and confirmed in the coronal plane. RESULTS: ARSA was found in 28 fetuses (0.4%). Further, 27 of these 28 fetuses were euploid (96.4%). Trisomy 18 was the only chromosomal anomaly (3.6%) found in the study sample. ARSA was an isolated finding in 23 of the 28 cases (82.1%). In the remaining three cases (10.7%), ARSA was accompanied with extracardiac anomalies. Other cardiac defects were present in three cases (10.7%). CONCLUSION: Isolated ARSA does not seem to be associated with a significantly increased risk of aneuploidy. However, the possibility of fetal karyotyping, which is a more invasive procedure, should be discussed in the light of the overall risk of the fetus.

Clinical Significance of Epidural Hematoma Related to Birth in Newborn / 대한주산의학회잡지

PURPOSE: Epidural hematoma (EDH) in newborn is very rare, but when it occurs it is usually due to birth injury. We have evaluated the incidence and clinical features of EDH related to birth in newborn. METHODS: We analyzed medical records of 12 newborns diagnosed with EDH at Cheil General Hospital and Women's Health Care Center from January 2000 to December 2015 retrospectively. RESULTS: The incidence of EDH related to birth was 0.01%, occurring in 1 of 10,000 live births. Of the total 12 cases, 10 occurred in male and 8 in vaginal delivery. Among them, 11 infants had evidences of birth injury. Clinical presentation was nonspecific: only 1 infant had neurologic symptoms. The temporooccipital area was the most frequent location of EDH. The median size of EDH was 3.2±0.8 cm in length and 1.2±0.7 cm in depth. Mass effect accompanied with midline shift on radiologic imaging was shown in one case. Surgical drainage was needed only in one infant with neurologic symptom and mass effect on radiologic imaging, while the others were treated conservatively. CONCLUSION: Neonatal EDH related to birth was treated conservatively in most cases. The radiologic mass effect and neurologic symptom should be considered as indication for surgical intervention.

Dacryocystocele on prenatal ultrasonography: diagnosis and postnatal outcomes

PURPOSE: To report the incidence of dacryocystoceles detected by prenatal ultrasonography (US) and their postnatal outcomes and to determine the factors associated with the postnatal persistence of dacryocystoceles at birth. METHODS: We retrospectively reviewed the prenatal US database at our institution for the period between January 2012 and December 2013. The medical records of women who had fetuses diagnosed with dacryocystocel larger than 5 mm were reviewed for maternal age, gestational age (GA) at detection, size and side of the dacryocystoceles, delivery, and postnatal information, such as GA at delivery, delivery mode, and gender of the neonate. RESULTS: A total of 49 singletons were diagnosed with a dacryocystocele on prenatal US, yielding an overall incidence of 0.43%. The incidence of dacryocystoceles was the highest at the GA of 27 weeks and decreased toward term. Of the 49 fetuses including three of undeter mined gender, 25 (54%) were female. The mean GA at first detection was 31.2 weeks. The dacryocystocele was unilateral in 29 cases, with a mean maximum diameter of 7 mm. Spontaneous resolution at birth was documented in 35 out of 46 neonates (76%), including six with prenatal resolution. Multivariate analysis demonstrated that GA at delivery was a significant predictor of the postnatal persistence of dacryocystoceles (P=0.045). CONCLUSION: The overall incidence of prenatal dacryocystoceles was 0.43%; the incidence was higher in the early third trimester and decreased thereafter. Prenatal dacryocystoceles resolved in 76% of the patients at birth, and the GA at delivery was a significant predictor of postnatal persistence.

Clinical features of macrocephaly at birth in Korea / 소아과

PURPOSE: This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography. METHODS: We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and ultrasonography results. Macrocephaly was diagnosed when the OFC was greater than two standard deviations, based on the 2007 Korean National Growth Charts. RESULTS: There were 75 neonates with macrocephaly at birth (52 boys and 23 girls), with a mean OFC of 38.1+/-0.49 cm. A comparison of the birth weight and height with the OFC value showed that height was correlated with OFC (r=0.35) but birth weight was not correlated with OFC (r=0.06). There were no remarkable findings in 56 cases (75%). Germinal matrix hemorrhage was identified in 10 cases (13%). An enlarged cerebrospinal fluid space was found in 5 cases (6.7%). There were 3 cases of mega-cisterna magna (4%), 1 case of ventriculomegaly, and 1 case of an enlarged interhemispheric space (6 mm) among these patients. In addition, a choroid plexus cyst was seen in 1 case. Mineralizing vasculopathy in both basal ganglia with no evidence of congenital infection was found in 2 cases and an asymptomatic subarachnoid hemorrhage was found in 1 case. CONCLUSION: Our results indicate that macrocephaly at birth has benign ultrasonography findings and shows a pattern of male dominance.

Sacral Cutaneous Clues to Underlying Spinal Abnormalities

PURPOSE: Sacral cutaneous lesions in newborns are associated with numerous spinal abnormalities. Early detection is important, because spinal abnormalities may cause neurological symptoms. Radiologic screening tests have been performed on newborns with sacral cutaneous lesions. This study aimed to substantiate the associations between sacral cutaneous lesions and spinal abnormalities. METHODS: From January 2007 until November 2013, we retrospectively reviewed the charts of 743 newborns with sacral cutaneous lesions that included sacral dimples, which were deeper than 5 mm and situated further than 2.5 cm from the anus, deviated gluteal furrow, hairy patch, hemangioma, dyspigmentaion, and the presence of mass, and skin tag. RESULTS: 743 newborns with sacral cutaneous lesions were examined, including 24 newborns with abnormal ultrasonographic images. Tethered cord which affected 18 (2.4%) of the newborns, was the most commonly found spinal abnormaility. Of these 9 newborns had other spinal abnormalities in addition to tethered cord including lipoma, cyst, spina bifida occulta, lipomyelomeningocele, and dermal sinus tract, and 9 newborns had isolated tethered cord only. Other spinal abnormalities found included isolated lipoma (3 newborns, 0.4%), and subarachnoid cyst (2 newborns, 0.3%), and of the 2 newborns (0.3%) who had dermal sinus tract, 1 also had a lipoma and the other also had a tethered cord. Normal variants included coccygeal pit (43 newborns, 5.8%), and ventriculus terminalis (10 newborns, 1.4%). Of the 646 newborns with isolated sacral cutaneous lesion, 11 (1.7%) had abnormal ultrasonographic images, and of the 97 newborns with combined sacral cutaneous lesions, 13 (13.4%) had abnormal ultrasonograpic images. CONCLUSION: Sacral cutaneous lesions in newborns can be associated with spinal abnormalities, and the strongest marker of spinal abnormality is a combined lesion. Therefore, ultrasonography should be performed on newborns who present with sacral cutaneous lesions to detect and investigate any underlying spinal abnormalities.

Ultrasonography of Gynecologic Causes of Acute Pelvic Pain

Acute pelvic pain is one of the most common complaints of woman presenting in the emergency department. When gynecologic disorders are suspected, ultrasonography (US) is the modality of choice, enabling rapid diagnosis and decision making with regard to appropriate management. Frequent gynecologic etiologies include a large or enlarging simple ovarian cyst, hemorrhagic ovarian cyst or rupture of an ovarian cyst, acute pelvic inflammatory disease, and ovarian torsion. Endometriosis, uterine leiomyoma, and peritoneal inclusion cyst can also present as acute pelvic pain. Gynecologic disorders that cause acute pelvic pain frequently show characteristic ultrasonographic findings that enable specific diagnosis. In this review, the authors review ultrasonographic findings of gynecologic causes of acute pelvic pain.

Isolated Intrauterine Clavicle Fracture in an Otherwise Normal Neonate: Two Case Reports / 대한주산의학회잡지

Intrauterine clavicle fracture is a rare finding, but can occur as the result of maternal trauma, skeletal dysplasia or theoretically other metabolic/structural abnormalities, but idiopathic isolated intrauterine fracture of an otherwise normal infant, newborn without serious injury to the mother is extremely rare. The authors experienced intrauterine clavicle fracture in normal infant, newborn with no special maternal and fetal history which was only found incidentally at birth. We report two cases of idiopathic isolated intrauterine clavicle fracture with confirmation of the diagnosis by X-rays.

Ultrasonographic Diagnosis of a Uterine Fusion Anomaly Associated with Neonates with Unilateral, Ectopic, Multicystic, Dysplastic Kidney

PURPOSE: The purpose of this paper is to reinforce the necessity of careful ultrasonographic evaluation of the uterus to detect uterine fusion anomaly in female neonates who were detected as having a unilateral, ectopic, multicystic, dysplastic kidney (MCDK) on fetal US. MATERIALS AND METHODS: We detected eight unilateral ectopic MCDK on fetal US of second trimester and neonatal ultrasonography between October 2003 and February 2009; neonatal US were taken at 2 to 10 days after birth for the initial evaluation of MCDK. Uterine fusion anomaly, vaginal obstruction and other associated urogenital anomalies were evaluated by neonatal US. RESULTS: Four of eight female neonates with unilateral ectopic MCDK showed a double uterus on neonatal US. They all showed hemivaginal fluid collection. Obstruction of the hemivagina and vaginal septum were depicted in two cases. A perivaginal cyst was seen in three cases, and in two cases the cyst was connected with the vaginal cavity. An ipsilateral perivaginal tubular structure was seen in one case, which was indicative of a ureteral remnant. There was no associated anomaly in the contralateral kidney except for a tiny cortical cyst in one case. CONCLUSION: The careful ultrasonographic evaluation of the uterus is important in female neonates who showed the ectopic MCDK on fetal US. In addition, it may help to detect the fusion anomaly that is otherwise difficult to detect on fetal US and to devise a treatment plan to prevent upcoming complications.

Clinical Study of Perinatal Infarcts / 대한주산의학회잡지

OBJECTIVE: Perinatal infarcts are an important cause of neonatal neurologic morbidity accounting up to 10~20% of neonatal seizures and annual incidence rate is about one in 4,000 live births. The purpose of this study is to describe the clinical presentation, course, radiologic and Electroencephlogram (EEG) findings and to evaluate the neurologic outcome of cerebral infarcts. METHODS: Between January 2000 to May 2004, 8 of 40,204 delivered newborns (0.02%) were diagnosed as having cerebral infarcts. The clinical presentation, course, radiologic and EEG findings were characterized by retrospective chart review and neurological outcome was evaluated by neurological examination and developmental test (Bayley Scales of Infant Development-II) at out-patient department. RESULTS: There were 5 males and 3 females. Six cases of them were full term, and other 2 cases were near-term neonates. Five cases presented neonatal seizure and 3 presented apnea or respiratory distress. All cases showed abnormal finding in the cranial ultrasonography that was performed immediately after the first symptoms. After then, diagnosis of cerebral infarct was confirmed by computed tomography and magnetic resonance imaging. Abnormal EEG finding was found in the 4 cases and a correlation between the location of these abnormalities and cerebral infarcts existed. The location of infarct was on the left hemisphere in five of the 8 cases and predominantly in the distribution of the middle cerebral artery. 7 cases were followed and the mean duration of follow up was 17 months (range 3~42 months). Neurologic outcome was normal in 3 cases and abnormal in 4 cases. Mild hemiparesis was present in 3 cases and recurrent epilepsy in 1 case. Developmental test was performed in 4 cases, all of them were normal. CONCLUSION: Neonatal seizure is an important presentation as the first sign of perinatal infarcts and cranial ultrasound can be used for initial evaluation of these perinatal infarcts. Neuological sequelae remains over half of the patients. Performing long term follow-up study of large cohort study is needed.

Complications Arising in Twin Pregnancy: Findings of Prenatal Ultrasonography

Multifetal gestations are high-risk pregnancies involving higher perinatal morbidity and mortality, and are subject to unique complications including twin oligohydramnios-polyhydramnios sequence, twin-to-twin transfusion syndrome, acardiac twins, conjoined twins, co-twin demise, and heterotopic pregnancies. The purpose of this study is to describe the prenatal ultrasonographic and pathologic findings of these complications.

Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.

Prenatal Ultrasound Findings of Fetal Neoplasms

A variety of neoplasms can develop in each tetal organ. Most fetal neoplasms can be detected by careful prenatal ultrasonographic examination. Some neoplosms show specific ultrasonographic findings suggesting the differential diagnosis, but others do not. Knowledge of the presence of a neoplasm in the fetus may alter the prenatal management of a pregnancy and the mode of delivery, and facilitates immediate postnatal treatment. During the last five years, we experienced 32 cases of fetal neoplasms in a variety of organs. We describe their typical ultrasonographic findings with correlating postnatal CT, MRI, and pathologic findings.

Prevalence of Thyroid Nodules detected by Ultrasonography in Womens Attending Health Check-Ups / 대한내분비학회지

BACKGROUND: Thyroid nodules are commonly found in clinical practice, and the recent development of thyroid ultrasonography has allowed for the detection of small nodules previously undetectable by routine palpations. Since previous studies on thyroid ultrasonography have been focused on patients with known thyroid disorders, we aimed to determine the prevalence of thyroid nodules in a female population. METHODS: We studied women in the age range 30 to 70 years visiting the health promotion center at Samsung Cheil Hospital for routine health check-ups. After excluding patients with previous thyroid disorders, 1300 women where selected to undergo thyroid ultrasonography for the detection of the presence of thyroid nodules. If nodules were found, their size and numbers were recorded, and these data correlated with the patients age. RESULTS: Of the 1300 subjects, thyroid nodules were detected in 490 (37.7%) with their prevalence (p=0.009), and that of multinodularity of thyroid nodules (p=0.001), increasing with the increasing age of the patients (Age 30 to 39: 30.8%, 40 to 49: 37.0%, 50 to 59: 41.5% and 60 to 69: 65.2%). Among these study subjects, nodules larger than 15 mm in size were detected in 29 and after performing fine needle aspirations on 18 nodules, 17 were found to be benign, with 1 papillary carcinoma, which required a total thyroidectomy. CONCLUSION: The prevalence of thyroid nodules in our female study population was 37.7%, with their prevalence, and that of multinodularity of thyroid nodules, increasing with increased age.

Clinical Features of Congenital Cytomegalovirus Infection in Neonates / 대한주산의학회잡지

OBJECTIVE: Cytomegalovirus(CMV) is the most common cause of congenital infection with diverse clinical features according to the age of hosts. This study was done to evaluate clinical manifestations and complications in congenital CMV infection. METHODS: Between October 2000 and September 2001, 10 cases of congenital CMV infection were diagnosed by urine culture within 2 weeks after birth. Demographic data, clinical and laboratory findings were collected from maternal and newborn hospital records. RESULTS: There were 7 males and 3 females. Average gestational age was 38+0 weeks(34+2-41+1), average birth weight was 2462+/-598.2g(1670-3360) and 5 cases were small for gestational age. Average head circumference was 31.9+/-1.8cm(29-34.3). There were 4 cases of microcephaly, 6 cases of petechiae, 3 cases of leukocytopenia, 6 cases of thrombocytopenia. There was no case showing hepatomegaly, hepatic dysfunction, or pathologic jaundice. 4 cases showed physiologic jaundice. IgM level was elevated in 5 out of 9 cases. Polymerase chain reaction(PCR) was positive in 7 cases. All cases showed germinal matrix hemorrhage and septated cysts on cranial ultrasonography. 1 case showed cerebral calcification. 1 case showed bilateral sensorineural hearing loss on brainstem auditory evoked potentials(BAEP). There was no case showing chorioretinitis on fundoscopy. CONCLUSION: There were diverse clinical manifestations in CMV infection in neonates. All cases showed germinal matrix hemorrhage and septated cysts. When we find these findings, we should consider the possibility of CMV infection. One patient developed bilateral sensorineural hearing loss, so its early detection and follow-up might be necessary.

Partial Situs Inversus of the Gastrointestinal Tract Simulating Hepatic Abscess: Case Report

Partial situs inversus of the gastrointestinal tract is characterized by reversal of the positions of thestomach and intestine, but normal placement of thoracic viscera. Its incidence is lower than that of total situsinversus. We recently encountered a classic case of partial situs inversus which simulated clinically andradiographically a hepatic abscess in a 9-year-old girl. She visited the emergency room complaining ofright-upper-quadrant pain, with tenderness; the onset had been sudden. The posteroanterior chest and uprightabdomen showed an air-fluid level in the right subphrenic area, thus raising the possibility that an abscess waspresent. An upper gastrointesitinal series and barium follow-through study disclosed that the air-fluid level wasdue to the right gastric fun-dus and that the position of the intestines was totally reversed;the small bowel wasin the right abdomen and the ileocecal valve and colon in the left. We report this case because partial situsinversus rarely simulate clinically and radiographically a right subphrenic or hepatic abscess.

CT Findings of Renal Cell Carcinoma: Correlation with Nuclear Grading and Cell Type

PURPOSE: To evaluate the CT appearance of renal cell carcinoma and to correlate it with nuclear grading andcell type. MATERIALS AND METHODS: The size, outer margin and heterogeneity of inner texture of renal cell carcinomas in 86 patients were evaluated on CT scan and were correlated with nuclear grade and cell type. RESULTS: Tumors less than 5cm were of low grade in 28 of 31 patients, while those larger than 5cm were of low grade in 28 of 55 patients. The lesions which showed no or round protrusion with a sharp margin were of low grade in 26 of 28 patients, while those which showed an undulated or indistinct margin were of low grade in 30 of 58 patients. Lesions which showed a homogeneous solid appearance, focal low densities, or mostly cystic changes were of low grade in 23 of 26 patients, while those which showed multiple or confluent low densites were low grade in 33 of 60 patients. There was a significant difference in the distribution of nuclear grading between the groups. Differences in CT apperance according to cell type were not found. CONCLUSION: Differences in less than 5cm showing no or round protrusion with a sharp margin, homogeneous inner texture with solid appearance, and heterogeneous inner texture with cystic appearance or focal low densities on CT scan were thought to be the findings suggesting low nuclear grading.

MRI Findings of Intracranial Cavernous IV lalformations

PURPOSE: To analyze the variable MRI features and clinical significance of intracranial cavernous realformation. MATERIALS AND METHODS: Forty patients(mean age 35.4) with cavernous malformation were evaluated by MRI. Eleven patients were surgically confirmed. Cavernous malformations were divided into four categories on the basis of the MR imaging characteristics, especially on T2-weighted image. Type I lesion was defined as an extralesional subacute hemorrhage outside the low signal rim, type II as an intralesional hemorrhage surrounded by low signal rim, type III lesion as an intralesional thrombosis with variegated central core surrounded by low signal rim, and type IV lesion as a focal old hemorrhagic core with small low signal intensity. Type IV was further divided into IVa and IVb, whether the lesion has small iso- or hypersignal central core (IVa) or not (IVb). Follow-up MRI was evaluated in 12 patients who were managed conservatively. Follow-up intervals ranged from 2 weeks to 29 months (mean 6months). RESULTS: Total 80 lesions were detected in 40 patients. Multiple lesions were noted in 10 patients. The topography of the cavernous malformations was supratentorial in 75% and infratentorial in 23%. There were 10 lesions in type I, 15 in type 11, 21 in type III, 14 in type IVa, and 20 in type IVb. Type I lesions mainly showed mass effect and edema. Type III lesions showed minimal contrast enhancements in 7 lesions on delayed images. Type II lesions showed the characteristics of both type I and type III lesions. On follow up images, decrease in size in 5, change of type in 7, rebleeding in 2 and no change in 12 lesions were demonstrated. Hemorrhage, edema and mass effect were combined in the cases of rebleeding. On follow-up study, the estimated risk of bleeding was 32.3%/person-year and 13.7%/lesion-year. CONCLUSION: Cavernous realformations show as variable appearance, on MR imaging suggesting variable stages of evolution. The MR morphologic classification and evaluation of secondary findings are helpful to predict natural course and possibility of rebleeding of the lesion.