A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with PIK3CA Mutation

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP is related to a somatic mosaic mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. We report a case of hemimegalencephaly with polymicrogyria and cutaneous capillary malformations diagnosed by genetic evaluation of MCAP in the neonatal period. The PIK3CA mutation [c.1635G>T (p. Glu545Asp)] was determined by Sanger sequencing. The patient was treated with a ventriculoperitoneal shunt for progressive hydrocephalus. Because of the dynamic, progressive clinical manifestations and tumor-prone traits of MCAP, early diagnosis is important. Moreover, since the phosphoinositide 3-kinase (PI3K)-specific inhibitor, a targeted therapy for the PI3K/AKT/mTOR signaling pathway is emerging as a new therapy, early genetic diagnosis is becoming increasingly important.

Optimal Dextrose Concentration for Pain Control in Healthy Newborns during Hepatitis B Vaccination

PURPOSE: Glucose has been recommended as an analgesic for mild to moderately painful procedures in neonates. The goal of this study was to assess the optimal dextrose concentration for pain control in newborns. METHODS: This prospective, randomized, blinded clinical trial included 116 healthy full-term newborns. The neonates were randomly assigned to the following four groups by drawing straws: groups receiving sterile water or a 10%, 20%, or 40% dextrose solution orally. Each group was treated with the assigned solution prior to hepatitis B vaccination. The Neonatal Facial Coding System (NFCS) and the Neonatal Infant Pain Scale (NIPS) scores were evaluated before, immediately after, and 2 minutes after the injection in all neonates. Premature Infant Pain Profile (PIPP) scores were evaluated during the injection. All procedures were video-recorded, and pain scores were assessed by two independent observers who were not involved in the care of the newborns studied. The pain scores were compared among the four groups. RESULTS: The 40% dextrose solution significantly reduced the NFCS (P=0.002) and the PIPP scores (P=0.001) compared with sterile water. No hyperglycemic events were noted in the study subjects 2 hours after the injection. CONCLUSION: The 40% dextrose solution effectively relieved pain due to intramuscular injection in full-term newborns without causing hyperglycemic events. However, the 10% and 20% dextrose solutions did not affect neonatal pain scores.

Uric Acid as a Predictor of Severe Intraventricular Hemorrhage in Very Low Birth Weight Infants

PURPOSE: To determine whether serum uric acid levels in the first 7 days of life can predict development of severe intraventricular hemorrhage (IVH) among very low birth weight (VLBW) infants. METHODS: VLBW infants admitted to the neonatal intensive care unit of Asan Medical Center between January 2009 and December 2012 were selected for chart review. Infants were divided into groups with and without severe IVH (grade> or =3). To determine whether uric acid is a predictor of severe IVH, uric acid levels on the first day (within 24 hours of birth), peak uric acid levels (during the first 7 days for infants without severe IVH, prior to IVH documentation by cranial sonogram for infants with severe IVH, and trend in uric acid levels were analyzed for both groups. Various antenatal and postnatal factors were compared between the groups, and risk factors associated with severe IVH were identified. RESULTS: A total of 397 VLBW infants were included, with mean birth weight of 1,075+/-292 g and a mean gestational age of 29.6+/-3.3 weeks. Higher levels of uric acid on day 1, higher peak levels, and rising uric acid levels were all found to be associated with the development of severe IVH on univariate analysis. Multivariate analysis confirmed that rising uric acid levels predicted subsequent development of severe IVH. Other factors associated with development of severe IVH included higher sodium, higher potassium, higher PaCO2, higher lactic acid, and lower PaO2. CONCLUSION: Careful attention to uric acid levels, which are easily measured, may be useful in predicting subsequent development of severe IVH among VLBW infants.

Early Sodium and Fluid Intake and Severe Intraventricular Hemorrhage in Extremely Low Birth Weight Infants

Hypernatremic dehydration is an important cause of intracranial hemorrhage. A possible association of intraventricular hemorrhage (IVH) with hypernatremia and/or high sodium intake has been suggested in preterm infants. To investigate the associations of early fluid and sodium intake or serum sodium concentrations with severe intraventricular hemorrhage (IVH) in extremely low birth weight (ELBW) infants, we reviewed the medical records of 169 inborn ELBW infants. Daily fluid and sodium intake, urine output, weight loss and serum sodium concentration during the first 4 days of life were obtained. Patients were divided into the severe IVH (grade 3/4) and the control (no or grade 1/2 IVH) group. The maximum serum sodium concentration and the incidence of hypernatremia did not differ between the two groups. Related to the fluid balance and sodium intake, the risk for severe IVH was strongly associated with total fluid and sodium intake during the initial four days of life. With respect to the fluids other than transfusion, severe IVH can be discriminated only by sodium intake but not by fluid intake. Large randomized controlled trials are required to clarify the causal relationship between the early sodium intake and severe IVH in ELBW infants.

Early Sodium and Fluid Intake and Severe Intraventricular Hemorrhage in Extremely Low Birth Weight Infants

Hypernatremic dehydration is an important cause of intracranial hemorrhage. A possible association of intraventricular hemorrhage (IVH) with hypernatremia and/or high sodium intake has been suggested in preterm infants. To investigate the associations of early fluid and sodium intake or serum sodium concentrations with severe intraventricular hemorrhage (IVH) in extremely low birth weight (ELBW) infants, we reviewed the medical records of 169 inborn ELBW infants. Daily fluid and sodium intake, urine output, weight loss and serum sodium concentration during the first 4 days of life were obtained. Patients were divided into the severe IVH (grade 3/4) and the control (no or grade 1/2 IVH) group. The maximum serum sodium concentration and the incidence of hypernatremia did not differ between the two groups. Related to the fluid balance and sodium intake, the risk for severe IVH was strongly associated with total fluid and sodium intake during the initial four days of life. With respect to the fluids other than transfusion, severe IVH can be discriminated only by sodium intake but not by fluid intake. Large randomized controlled trials are required to clarify the causal relationship between the early sodium intake and severe IVH in ELBW infants.

Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods. We report a 37+3 -gestational-week neonate presenting with fatal autosomal recessive polycystic kidney disease who died at 28 hours of life from severe respiratory failure. The familial history is significant because a previous sibling died in utero at 24+2 weeks of gestational age and was diagnosed with polycystic kidney disease based on prenatal ultrasonography and autopsy. Our patient's autopsy revealed findings compatible with polycystic kidney disease. In addition, a PKHD1 gene study of peripheral blood leukocytes identified the compound heterozygote mutation c.274C>T(p.Arg92Trp), as well as the novel heterozygous nonsense mutation c.2770C>T(p.Gln924*).

Preliminary Study on Neurodevelopmental Outcome and Placental Pathology among Extremely Low Birth Weight Infants / 대한주산의학회잡지

PURPOSE: To investigate the relationship between placental pathology and neurodevelopmental outcomes among extremely low birth weight (ELBW) infants. METHODS: Pathology of placentas from ELBW infants born at a tertiary neonatal intensive care unit from January 2007 to December 2012 were reviewed and placental histology was grouped into 3 categories by a designated pathologist: acute chorioamnionitis (ACA), maternal vascular underperfusion (MVU), and control group. Matched ELBW infants were tested for significant neurodevelopmental delays defined as mental developmental index (MDI) or psychomotor developmental index (PDI) <70, using Bayley Scales of Infant Development-II (BSID-II). RESULTS: The mean gestational age and birth weight of 175 infants were 27.1+/-2.5 weeks and 764.7+/-152.3 g respectively. Placental histology revealed MVU (48.0%), ACA (25.1%) and control (26.9%) in distribution. There were less significant patent ductus arteriosus in MVU group than in control group [adjusted odds ratio (OR)=0.331, P=0.011]. The frequencies of other neonatal diseases and mortality were similar in 3 groups. Sixty four of 175 infants were examined for BSID-II at mean corrected 19.9+/-3.2 months. MVU was associated with significant mental developmental delay (OR=5.185, P=0.036), but after adjustment for head circumference/weight at birth, the statistically significance of association disappeared (adjusted OR=4.391, P=0.075). ACA did not affect neonatal and neurodevelopmental outcomes. CONCLUSION: The result of placenta biopsy could be a useful tool in counseling parents for future neurodevelopmental outcome, however, further studies are required to define definitive association in between placenta biopsy and neurodevelopmental outcomes.

Continuous Renal Replacement Therapy in the Neonatal Intensive Care Unit: A Single-Center Study

PURPOSE: Continuous renal replacement therapy (CRRT) has become an essential modality for the care of critically ill pediatric patients who require renal support. However, experience with CRRT in the neonatal population is not common in Korea. In this study, we aimed to investigate the clinical features, outcomes, and complications of CRRT in neonates in a single neonatal intensive care unit (NICU). METHODS: We reviewed the medical records of 17 neonates who underwent CRRT at a NICU of a tertiary hospital. The data included demographic characteristics, diagnosis, complications, and laboratory and CRRT parameters. RESULTS: The median age at initiation of CRRT was 6 days after birth. All patients were treated with CRRT in continuous venovenous hemodiafiltration mode, with a median treatment duration of 57 hours. The main indication for CRRT was an inborn error of metabolism (IEM), followed by congenital renal disease and multiorgan failure. In patients with an IEM, the median plasma ammonia level at the CRRT initiation was 1,232 micromol/L, and the mean duration until the ammonia level decreased to half of the peak ammonia level was 7.3+/-2.5 hours. The overall hospital mortality rate was 41.2%. The outcomes of the 10 survivors after discharge included death (n=2), loss to follow-up (n=3), and survival with developmental delay (n=4). CONCLUSION: Although CRRT was effective in lowering the plasma ammonia level of neonates with IEM, the associated mortality and morbidity were high. Hence, further studies are needed to optimize the CRRT protocol and to establish an effective patient referral system in Korea.

Peritoneal Dialysis-related Peritonitis in Children: A Single Center's Experience Over 12 Years

PURPOSE: The aim of our study was to investigate the characteristics of the peritoneal dialysis (PD) - related peritonitis and to evaluate the effectiveness of the empirical antibiotics recommended by the International Society for Peritoneal Dialysis in Korean children. METHODS: We retrospectively reviewed the medical records of 72 children on peritoneal dialysis at the Department of Pediatrics, Asan Medical Center over the period from March 2000 to February 2012. RESULTS: Seventy-nine episodes of peritonitis occurred in 32 patients. The incidence of peritonitis was 0.43 episodes/patient.year. There were no significant differences in the incidence of peritonitis in terms of dialysis modality (P=0.459). Twenty-one patients experienced 51 catheter exit-site infections (0.28 episode/patient.year). There were no significant differences in the incidence of peritonitis between those with and without history of exit-site infections (P=0.721). Specific pathogens were isolated from 68.4% (54/79) of the patient with peritonitis episodes, including Gram-positive bacteria (n=34), Gram-negative bacteria (n=25) and fungus (n=1). Among Gram-positive bacteria, 85.3% of the isolates were susceptible to beta-lactam antibiotics, among Gram-negative rods, 94.7% of the isolates were susceptible to ceftazidime. Among 25 cases with unknown etiologies, 92.0% of cases demonstrated satisfactory responses to cefazolin and ceftazidime. CONCLUSIONS: The incidence of peritonitis was 0.43 episodes/patient.year. Initial empirical therapy consisting of cefazolin and ceftazidime was appropriate for 91.1% of the PD-related peritonitis treatment. Continuous monitoring for the emergence of the resistant organisms is an important part of the appropriate managements of PD-related peritonitis.

A Case of adrenocortical oncocytoma Presenting with Peripheral Precocious Puberty

Adrenocortical oncocytoma is a rare adrenal gland tumor, and in most cases, benign and non-functioning. Functional adrenocortical oncocytoma has only been reported in eleven cases worldwide, including three children. These cases all showed clinical symptoms and signs, such as virilization, feminization, Cushing syndrome and Conn syndrome, as a result of overproduction of adrenal steroid hormones. We report a 2-year-old girl who presented with precocious puberty with premature pubarche. Dehydroepiandrosterone sulfate (DHEA-S) and testosterone levels were elevated and a 1.9 cm right adrenocortical oncocytoma was found. After tumor resection, her hormone levels were normalized.

Ability of Facial Affect Perception in Patients with Schizophrenia

OBJECTIVES: The purpose of this study is to compare the ability of facial affect perception among schizophrenia patients, their first degree relatives, and normal control subjects. METHODS: Thirty five patients with schizophrenia, 22 first degree relatives, and 34 normal control subjects were recruited in this study. All three groups were matched for age and education levels. The facial affect identification test(FAIT), and neurocognitive test were applied. In the FAIT, the correct response rate, perceived intensity, and sensitivity for 6 kinds of affects were compared among three groups. RESULTS: We found that correct response rate of sadness and anger were decreased in the schizophrenia patients compared with the normal control group. Also the schizophrenia patients showed reduced sensitivity for all six affects compared with the normal control group. The ability of facial affect perception in first degree relatives of schizophrenia patients was decreased but there were not any significant differences compared with normal control group. CONCLUSION: This study confirmed significantly reduced ability of facial affect perception in schizophrenia patients compared with normal control. Decreased ability of facial affect perception in first degree relatives suggests that affective sensitivity can be influenced by genetic predisposition.

A Case of Ganglioneuroma in a Patient with Gross Hematuria / 대한신장학회잡지

Ganglioneuroma is a rare benign neoplasm that originates from the neural crest tissue and is characterized histologically by the composition of mature ganglion cells and Schwann's cells. Its definitive diagnosis is achieved by histological examination and most ganglioneuromas arise in the posterior mediastinum followed by the retroperitoneum. Due to the slow growth of the tumor, it may be incidentally detected in imaging studies for unrelated reasons and most of them are clinically silent. Recently a 18-year-old man visited Chonnam National University Hospital because of intermittent gross hematuria. We tentatively diagnosed him as renal cyst or retroperitoneal benign cystic tumor by abdominal CT and MRI, however biopsy result of surgically resected tumor showed that it contained Schwann's cells and mature ganglion cells, thus we confirmed the diagnosis of retroperitoneal ganglioneuroma. To our best knowledge, this is the first reported case of retroperitoneal ganglioneuroma with gross hematuria in Korea, so we report the case with reviews of other literatures.

A case of cold urticaria showing metachromasia in skin biopsy / 천식및알레르기

The patient was a 24-year-old male who complained of urticaria upon exposure to cold air and after showering in cold water. Allergic skin tests were positive for cockroach. To determine whether he had cold urticaria, we performed an ice cube test. The patient complained of pruritus, erythema, and wheals appeared at 10min. Skin biopsy specimens collected 10 minutes after ice-cube test showed perivascular mononuclear cell infiltration and edema in hematoxylin and eosin stains, and metachromatic cell and degranulation in toluidine blue stain.