Euiseok Jung

Spontaneous resolution of prenatally diagnosed dural sinus thrombosis : a case report

Fetal thrombosis of the dural sinus is an extremely rare congenital cerebrovascular condition that is potentially fatal. We report a case of dural sinus thrombosis diagnosed by prenatal ultrasonography and fetal magnetic resonance imaging (MRI) in the second trimester. The thrombosis showed partial resolution during pregnancy and resolved spontaneously after birth without neurological complications. This is the first report of spontaneous postnatal resolution, and may provide helpful information on the natural history and prenatal counseling of fetal thrombosis of the dural sinus. Copyright

Case of mucinous adenocarcinoma of the lung associated with congenital pulmonary airway malformation in a neonate

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II CPAM complicated by multifocal mucinous adenocarcinoma. KRAS sequencing revealed a somatic mutation in Codon12 (GGT → GAT), suggesting the development of a mucinous adenocarcinoma in the background of mucinous metaplasia. Mucinous adenocarcinoma is the most common lung tumor associated with CPAM, but it generally occurs in older children and adults. Further, all cases in the literature are of type I CPAM. This case in a neonate indicates that malignant transformation can occur very early in type II CPAM.

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb

Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG. The distinct dysmorphic features of this condition include long eyelashes, retrognathia, hirsutism, clenched overlapped fingers, hypoventilation, hepatomegaly, generalized edema, and immunodeficiency.

Trends in Treatment Outcome and Critical Predictors of Mortality for Congenital Diaphragmatic Hernia in a Single Center

Objective: To review trends in treatment outcomes, to determine risk factors for mortality, and to present a cut-off values of observed/expected lung to head ratio (O/E LHR) predicting mortality in infants with congenital diaphragmatic hernia (CDH). Methods: A retrospective study of infants with CDH treated in the neonatal intensive care unit at tertiary medical center over 27 years (1989 to 2016) was done. We analyzed the factors associated with mortality and based on significant factors in predicting the mortality, the best cut-off value of O/E LHR was sought. Results: A total of 264 patients were included for the study. The mean gestational age and birth weight were 38.0±2.2 weeks and 2,934.2±578.2 g, respectively. Seventy nine patients (29.9%) died. The range of yearly mortality rate varied from 0 to 67%. Prenatal, neonatal, and surgical factors associated to mortality included time of prenatal diagnosis, polyhydramnios, O/E LHR, associated major congenital anomalies (cardiac, gastrointestinal or chromosomal anomalies), gestational age, birth weight, Apgar scores, initial pH and pCO2, and number of herniated organs. Among 62 fetuses whose O/E LHR were available, O/E LHR and major congenital anomalies were independent risk factors for mortality (area under curve=0.918), fetuses with O/E LHR <44% without congenital anomalies showed predicted mortality of 72% and fetuses with O/E LHR ≥44% without congenital anomalies showed expected mortality of 7%. Conclusion: The mortality of Infants with CDH has not improved despite advance of neonatal care. The O/E LHR and the presence of major congenital anomalies could be used adjunctively when counseling parents about the prognosis.

The Effect of Macrolide Therapy on Bronchopulmonary Dysplasia in Ureaplasma-Positive Very Low Birth Weight Infants

*These authors contributed equally to this work. Objective: Ureaplasma has been demonstrated the cause of short and long-term morbidities of preterm infants, especially such as bronchopulmonary dysplasia (BPD). This study aims to evaluate the influence of Ureaplasma on neonatal morbidities and the effect of macrolide treatment in very low birth weight (VLBW) infants. Methods: We performed a retrospective review of clinical records of VLBW infants born between 2015 and 2016. Their endotracheal aspirate and gastric juice were obtained immediately after birth and tested for Ureaplasma. Therapeutic macrolides were administered according to the clinical judgment, not routinely, in Ureaplasma-positive infants. Neonatal morbidities were compared using individual matching analysis between Ureaplasma-positive and negative groups, and with macrolides administration. Results: A total of 144 infants with the mean (±standard deviation) gestational age of 28 (±3) weeks and birth weight of 1,051.9 (±290.0) g were included, and 30 (20.8%) were Ureaplasma-positive. Ureaplasma-positive group was associated with higher incidence of respiratory distress syn drome (RDS, P=0.039) and severe neurologic injury (SNI; intraventricular hemorrhage ≥grade 3 or periventricular leukomalacia, P=0.013). However, Ureaplasma-positive group was not associated with the risk of BPD (P=0.706). In the subgroup analysis for Ureaplasma-positive infants, there was no difference in the incidence of morbidities according to the macrolides administration. Conclusion: Although Ureaplasma has no independent role in the development of BPD, Ureaplasmapositive VLBW infants were more likely to have RDS and SNI. The macrolides administered in Ureaplasma-positive was not effective to reduce neonatal morbidities.

Chronic Placental Inflammation as a Risk Factor of Severe Retinopathy of Prematurity

Background Chronic placental inflammation (CPI) has been implicated in the pathogenesis of diseases in premature infants, whereas retinopathy of prematurity (ROP) is a major complication primarily affecting preterm and very low-birth-weight (VLBW) infants. This study aims to investigate the association between CPI and ROP in VLBW infants. Methods We performed a retrospective review of clinical records of VLBW infants born between 2013 and 2016. Placental pathology findings including CPI cases were analyzed using logistic regression to study infants’ morbidities and other clinical characteristics. Results A total of 402 infants with a mean (standard deviation) gestational age of 28.5 (2.8) weeks and birth weight of 1,027.2 (304.4) g were included. The incidence of ROP was 24.1%. CPI was found in 90 infants (22.4%), among which 28.9% (26 of 90) developed ROP, and 21.1% (19 of 90) underwent laser photocoagulation. Lower gestational age, lower birth weight, longer duration of oxygen supply, and presence of CPI were associated with the development of ROP. After adjustment for gestational age, birth weight, sex, duration of oxygen supply, and other overlapping placental pathology, CPI was associated with the odds for type 1 ROP that required laser photocoagulation (adjusted odds ratio, 2.739; 95% confidence interval, 1.112 to 6.749; p = .029). Conclusions CPI was associated with severe ROP requiring treatment with laser photocoagulation in VLBW infants.

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis

Nonimmune hydrops fetalis is the most severe clinical manifestation of lysosomal storage diseases (LSDs). Around 14 different LSDs have been accounted for as 1-15% of the cause of nonimmune hydrops fetalis. We report a Korean infant affected by an extremely rare but severe form of sialic acid storage disease. The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and dysostosis multiplex and died at 39 days of age due to persistent pulmonary hypertension. LSD was suspected based on the presence of diffuse vacuolation of syncytiotrophoblast, villous stromal cells, and intermediate trophoblast in placental biopsy. Increased excretion of urinary free sialic acid was detected by liquid chromatography-tandem mass spectrometry. The patient was compound heterozygous of the c.908G>A (p.Trp303Ter) and the splicing mutation c.1259+5G>T (IVS9+5 G>T) in the SLC17A5 gene.

First reported case of fetal aortic valvuloplasty in Asia

Prenatal intervention of severe fetal aortic valve stenosis by ultrasound-guided percutaneous balloon valvuloplasty has been performed to prevent the progression to hypoplastic left heart syndrome, and achieve biventricular circulation in neonates. Here we report a case of fetal aortic valvuloplasty prenatally diagnosed with aortic stenosis at 24 weeks of gestation and showed worsening features on a follow-up echocardiography. Prenatal aortic valvuloplasty was performed at 29 weeks of gestation, and was a technical success. However, fetal bradycardia sustained, and an emergency cesarean delivery was performed. To the best of our knowledge, this is the first reported case of fetal aortic valvuloplasty which was performed in Asia.

3615: Ultrasonographic measurement of fetal nasal bone length in the second trimester in Korean population

OBJECTIVE To establish the reference range of fetal nasal bone length (NBL) in the second trimester in the Korean population and to determine its clinical value in screening for trisomy 21. STUDY DESIGN A total of 3019 consecutive fetuses at 16-28 weeks of gestation underwent ultrasonographic measurement of NBL at Asan Medical Center from October 2003 to August 2005. RESULTS Fetal profile was successfully examined in 95.6% (2885/3019) of the fetuses. NBL increased linearly with advanced gestation (R(2) = 0.4337, p < 0.001). During this period, 23 fetuses with chromosomal abnormalities (including nine with trisomy 21, two with trisomy 18, and three with Turner syndrome) were detected. In trisomy 21, hypoplastic nasal bone (<2.5th percentile) was seen in 3/9 fetuses, and the NBL of one fetus was between the 2.5th and 5th percentile. Hypoplastic nasal bone was seen in 3.1% (89/2833) of fetuses with normal chromosomal or postnatal examination findings. CONCLUSION We present the normal range of NBL in the second trimester in the Korean population and also their linear relationship with gestational age (GA). The NBL appears to be shorter in Korean fetuses than Caucasian and Chinese fetuses. This indicates that the normal range would vary between races and that a relative percentile is a more reliable screening criterion than an absolute value.