Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at 37(+1) weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of beta-D-hexosaminidase and alpha-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.
Acetylglucosaminidase ; Aged ; Alkaline Phosphatase ; Asphyxia ; Biopsy ; Birth Weight ; Dysostoses ; Enzyme Assays ; Female ; Fetal Growth Retardation ; Genetic Testing ; Humans ; Hyperparathyroidism ; Hyperparathyroidism, Secondary ; Infant ; Infant, Newborn ; Leukocytes ; Mucolipidoses ; Mucopolysaccharidosis I ; Parathyroid Hormone ; Parturition ; Phenotype ; Plasma ; Pregnancy ; Rickets ; Trophoblasts ; Vitamin D

Perinatal stroke in neonates can lead to disability in later life. However, its etiology and prognosis are poorly understood. The aim of this study was to describe clinical presentations and neurodevelopmental outcomes of our case series of perinatal stroke in Korea. Thirteen term and preterm neonates who were diagnosed with perinatal stroke in two university hospitals from March 2003 to March 2007 were enrolled. Seven term and 6 preterm neonates were diagnosed with perinatal stroke, based on the brain MRI findings. Perinatal stroke presented with seizure (4/13), perinatal distress (3/13) in term neonates, whereas stroke in preterm neonates did not present with noticeable clinical symptoms. Only one neonate had positive thrombophilic test (homozygous C677T polymorphism for MTHFR). Ten neonates had infarctions in the territory of the middle cerebral artery (MCA), and 3 neonates had borderzone infarctions between the anterior cerebral artery and MCA. Neurodevelopmental outcome was abnormal in 4 neonates. Infarction in MCA main branch or posterior limb of internal capsule showed an abnormal neurodevelopmental outcome. Our study is the first systematic study of perinatal stroke in Korea, and shows its clinical presentations and neurodevelopmental outcomes. The population-based study on incidence and prognosis of perinatal stroke in Korea is required in the future.

PURPOSE: To examine the developmental outcome of preterm infants with cerebral insults and to evaluate the prognostic indicators for gross motor development. METHODS: Forty-eight preterm infants less than 37 weeks of gestation, who had been born at Seoul National University Bundang Hospital between March, 2004 and September, 2008 where the subjects of this. The infants' charts were reviewed to obtain data, including gestational age, birth weight, gender, 1/5 minute Apgar scores, neuroimaging findings, and others. RESULTS: Of the 48 patients, 29 infants (60.4%) were put into a normal developmental group and 19 (39.6%) were put into developmental delay group. Univariate analysis of the two groups showed that P values less than 0.05 were observed with respect to gestational age, premature rupture of membrane (PROM), respiratory distress syndrome, bronchopulmonary dysplasia, and patent ductus arteriosus. PROM and antenatal steroid showed statistically significant differences on a multivariate analysis. The same analysis method was applied to preterm infants less than a corrected age of 32 weeks. Multivariate analysis suggested that PROM showed statistically significant differences. Also, 48 patients were analyzed with respect to neuroimage finding. Twenty-five infants (52.1%) were assigned to a germinal matrix hemorrhage (GMH) group and 23 infants (47.9%) were allocated to a non-GMH group. Cesarean section delivery showed statistically significant difference according to univariate analysis. CONCLUSION: In preterm infants with cerebral insults, PROM and antenatal steroids were independent risk factors for impaired gross motor development.
Birth Weight ; Bronchopulmonary Dysplasia ; Cesarean Section ; Ductus Arteriosus, Patent ; Female ; Gestational Age ; Hemorrhage ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Membranes ; Multivariate Analysis ; Neuroimaging ; Pregnancy ; Risk Factors ; Rupture ; Steroids

PURPOSE: Neonatal seizure is the most significant parameter of neurological insult, however its pathophysiology and diagnostic consensus is still controversial. We performed this study to investigate the characteristics of electroencephalogram (EEG) in neonatal seizures, to validate the efficacy of radiological studies, and to estimate the occurrence of further subsequent epileptic seizures. METHODS: Seventeen patients with full-term neonatal seizure confirmed by electrical seizure were enrolled. Mean birth weight is 3.29 kg, and mean duration of follow-up is 22.7 months. Medical records and EEG were retrospectively reviewed. RESULTS: Subtle seizure is the most common seizure type: subtle seizure in 6 (35%), subtle seizure with focal clonic seizure in 2(12%). In 12 patients (71%), abnormal background activities were observed, and trace discontinua is the most common abnormal finding. Ictal EEGs were mostly localized into unilateral posterior quadrant in 11 (64%), however, the remained were localized into the frontal area. Brain USG did not reveal any abnormal finding in 9 patients (53%), whereas brain MRI didn't in 4 patients (25%). Brain MRI found abnormal findings in 5 out of 9 patients with negative brain USG result. Subsequent epileptic seizures followed in 7 patients (44%). Conclusion: Background activity is still useful as an indirect marker of neonatal seizure. Different generation or propagation mechanism can be suggested in that ictal EEGs were often localized into the frontal area in minor portion. Brain MRI is more sensitive than brain USG, especially in case of cerebral infarct or hypoxic-ischemic encephalopathy.
Birth Weight ; Brain ; Consensus ; Electroencephalography ; Epilepsy ; Epilepsy, Partial, Motor ; Follow-Up Studies ; Humans ; Hypoxia-Ischemia, Brain ; Medical Records ; Retrospective Studies ; Seizures

Colitis cystica profunda is a rare benign condition characterized by the presence of mucus-filled cysts in the submucosa of the colon and the rectum. Although it may diffusely involve the entire colon, this disease primarily affects the pelvic colon and rectum. It has rarely been described in the pediatric literature. The surgical treatment has been widely advocated. We report a 7-month-old case, successfully treated by colonoscopic polypectomy without complication. Histologically, components of juvenile retention polyp were mixed with colitis cytsica profunda.
Colitis* ; Colon ; Humans ; Infant* ; Polyps* ; Rectum

BACKGROUND AND OBJECTIVES: Universal infant hearing screening has been recommended by the National Institutes of Health. Although the distortion-product otoacoustic emissions (DPOAE) hold promise as a screening technique, the validity oftheir input/output function curve (I/O curve) in the screening of neonates has not been fully investigated. The aims of this study were to determine the efficacy of the I/O curve as a hearing screening test and to investigate the prevalence of sensorineural hearing loss (SNHL)(moderate to severe degree) in high risk neonates. MATERIALS AND METHOD: A total of 69 ears of 35 infants at risk for hearing loss were tested with both DPOAE and auditory brainstem responses (BR). Auditory brainstem response results were used as the standard for hearing. The hearing threshold level at 3 kHz in I/O curve and the amplitude of distortion product in the DP audiogram were calculated and compared with the results of ABR. Neonates whose hearing thresholds were worse than 60 dB in the I/O curve were regarded as 'test-positive' and neonates whose hearing thresholds were worse than 60dB in ABR were regarded as 'disease-positive'. The sensitivity and the specificity of each test were calculated and the correlations between the response of each test and ABR threshold were also studied. RESULTS: The prevalence of SNHL in neonates in the SNUH neonatal intensive care unit was 5.79%. The sensitivity and specificity of the screening test using the I/O curve were 100% and 63.1%, respectively. The test using the DP amplitude for SNHL showed the sensitivity of 100% and the specificity of 18.46%. This was much lower than that of the screening test using the I/O curve. There was a positive correlation between the I/O threshold and ABR threshold (r=0.43), but there were no statistically significant correlations between the DP amplitude and the ABR threshold nor between the DP amplitude and the I/O threshold. CONCLUSIONS: The test using the I/O threshold in DPOAE is suitable for the screening of the SNHL in neonates with high sensitivity and relatively high specificity. Moreover, the I/O threshold could predict the audiometric threshold more correctly than the DP amplitude could.
Ear ; Evoked Potentials, Auditory, Brain Stem ; Hearing Loss ; Hearing Loss, Sensorineural ; Hearing* ; Humans ; Infant ; Infant, Newborn* ; Intensive Care, Neonatal ; Mass Screening* ; National Institutes of Health (U.S.) ; Prevalence ; Sensitivity and Specificity

PURPOSE: Most neonatal abdominal masses are benign in nature, but early detection and management is important to avoid the development of complications. So, we studied the causes of neonatal abdominal masses and the efficacy of ultrasonography for early detection and diagnosis. METHODS: We reviewed 36 newborn infants with abdominal masses who had been admitted to the nursery and Neonatal Intensive Cave Unit of Seoul National University Children' s Hospital from Jan. 1, 1989 to Dec. 31, 1995. RESULTS: The mean gestational age was 38 weeks and the male to female ratio was 22 : 14. All masses were benign and the most common etiology was hydronephrosis (41.7%). The following etiologies were multicystic dysplastic kidney, polycystic kidney, ovarian cyst, hemangioendothelioma, teratoma, meconium peritonitis, mesenteric cyst and intestinal duplication cyst. All except one were detected before the first 48hours, and among them, 32 cases (88.9%) detected antenatally. All patients except one who died shortly after birth, were examined by abdominal ultrasonography, and 31 of 35 masses (88.6%) had the same diagnosis of ultrasonography. Five cases had associated abnormalities in the opposite kidney and other organs. CONCLUSION: The most common etiology of neonatal abdominal masses was hydronephrosis and majority of masses originated from genitourinary system. Most abdominal masses were detected antenatally and abdominal ultrasonography was an efficient method for the diagnosis of neonatal abdominal masses.
Diagnosis* ; Female ; Gestational Age ; Hemangioendothelioma ; Humans ; Hydronephrosis ; Infant, Newborn ; Kidney ; Male ; Meconium ; Mesenteric Cyst ; Multicystic Dysplastic Kidney ; Nurseries ; Ovarian Cysts ; Parturition ; Peritonitis ; Polycystic Kidney Diseases ; Seoul ; Teratoma ; Ultrasonography* ; Ultrasonography, Prenatal* ; Urogenital System

PURPOSE: Patent ductus arteriosus (PDA) of prematurity is very important disease to study because it causes many cases of perinatal morbidity and its incidence is now increasing. Nowadays indomethacin is the drug of choice for PDA closure, but its use has been limited due to its side effects. Therefore, we compared the effect and side effects of indomethacin according to the infusion method, continuous versus intermittent infusion, to find better an administration method. METHODS: Twenty-five preterm infants who were admitted to Seoul National University Children's Hospital (SNUCH) NICU from March 1995 to August 1996 with a diagnosis of respiratory distress syndrome (RDS) and PDA, were enrolled. They were randomly assigned to intertmittent lV group or continuous lV group. Each group received three intermittent doses or continuous infusion over 36 hours, respectively. We analyzed the perinatal history, time of diagnosis and treatment of PDA, size of PDA, and compared the laboratory parameters, intraventricular hemorrhage (IVH), periventricular echogenecity (PVE), ductal closure and perinatal morbidity before and 48 hours after indomethacin administration between the two groups. RESULTS: Fourteen infants (birth weight 1,149 +/- 373g) were intermittent lV group and eleven infants (birth weight 1,212 +/- 504g) were continuous lV group. There were no significant difference between the groups in perinatal history, pretreatment laboratory parameters, ductal closure, and perinatal morbidity. Patients with IVH of grade 2 or more increased significantly in intermittent lV group (50%) compared to continuous lV group (9%), and PVE progressed significantly in intermittent lV group (64%) compared to continuous lV group (18%). CONCLUSION: Continuous infusion of indomethacin for PDA closure in preterm infants with RDS appears to be as effective as intermittent infusion of indomethacin in closing PDA and have less side effects such as IVH and PVE progress.
Diagnosis ; Ductus Arteriosus, Patent ; Hemorrhage ; Humans ; Incidence ; Indomethacin* ; Infant ; Infant, Newborn ; Infant, Premature* ; Seoul

PURPOSE: Patent ductus arteriosus (PDA) of prematurity is very important disease to study because it causes many cases of perinatal morbidity and its incidence is now increasing. Nowadays indomethacin is the drug of choice for PDA closure, but its use has been limited due to its side effects. Therefore, we compared the effect and side effects of indomethacin according to the infusion method, continuous versus intermittent infusion, to find better an administration method. METHODS: Twenty-five preterm infants who were admitted to Seoul National University Children's Hospital (SNUCH) NICU from March 1995 to August 1996 with a diagnosis of respiratory distress syndrome (RDS) and PDA, were enrolled. They were randomly assigned to intertmittent lV group or continuous lV group. Each group received three intermittent doses or continuous infusion over 36 hours, respectively. We analyzed the perinatal history, time of diagnosis and treatment of PDA, size of PDA, and compared the laboratory parameters, intraventricular hemorrhage (IVH), periventricular echogenecity (PVE), ductal closure and perinatal morbidity before and 48 hours after indomethacin administration between the two groups. RESULTS: Fourteen infants (birth weight 1,149 +/- 373g) were intermittent lV group and eleven infants (birth weight 1,212 +/- 504g) were continuous lV group. There were no significant difference between the groups in perinatal history, pretreatment laboratory parameters, ductal closure, and perinatal morbidity. Patients with IVH of grade 2 or more increased significantly in intermittent lV group (50%) compared to continuous lV group (9%), and PVE progressed significantly in intermittent lV group (64%) compared to continuous lV group (18%). CONCLUSION: Continuous infusion of indomethacin for PDA closure in preterm infants with RDS appears to be as effective as intermittent infusion of indomethacin in closing PDA and have less side effects such as IVH and PVE progress.
Diagnosis ; Ductus Arteriosus, Patent ; Hemorrhage ; Humans ; Incidence ; Indomethacin* ; Infant ; Infant, Newborn ; Infant, Premature* ; Seoul

PURPOSE: Patent ductus arteriosus (PDA) is a common disease in very low birth weight infants (VLBWI). Hemodynamically significant PDA increases the morbidity and mortality of premature infants. Based on experimental model, light inhibits the constriction of immature piglet's ductal rings. No specific mechanism adequately explains the effect of light on the relaxation of PDA. Several hypotheses, including activation of photosensitive metabolites, alterations in receptors, or alterations in prostaglandin metabolism, have been postulated. The purpose of this study was to evaluate the influence of phototherapy on incidence of PDA in VLBWI. Mehtods : Sixty-three infants with birth weights less than 1,500 gm from March 1994 to February 1996 who were admitted in NICU of Seoul National University Children's Hospital were included. Thirty-four infants from March 1995 to February 1996 were shielded with aluminium foils on left chest during phototherapy (Shield group) and twenty-nine infants from March 1994 to February 1995 were not shielded (No shield group : control group). We investigated the incidence and the perinatal risk factors of PDA. RESULTS: 1) The incidence of PDA was 18% in shield group and 41% in control group. There was statistically significant between the two groups (P<0.05). 2) There was not statistically significant between two groups with gestational age, birth weight, sex, delivery mode, etc. 3) The perinatal risk factors which were statistically significant were group and presence of respiratory distress syndrome (RDS), and use of artificial surfactant. With linear logistic regression analysis, only group (OR=8.3, 95% CI=1.17-58.69) and presence of RDS (OR=21.3, 95% CI=1.39-329.81) were proved to be related to the occurrence of PDA. CONCLUSIONS: We conclude that chest shielding during phototherapy is a simple and inexpensive method to decrease the incidence of PDA.
Birth Weight ; Constriction ; Ductus Arteriosus, Patent* ; Gestational Age ; Humans ; Incidence* ; Infant* ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight* ; Logistic Models ; Metabolism ; Models, Theoretical ; Mortality ; Phototherapy* ; Relaxation ; Risk Factors ; Seoul ; Thorax