Lumbocostovertebral Syndrome with Congenital Bilateral Lumbar Hernia / 대한주산의학회잡지

Lumbocostovertebral syndrome is a rare type of congenital lumbar hernia. Its features include lumbar hernia associated with genitourinary, vertebral, and rib anomalies. About 30 cases have been reported in the English literature, but in Korea, there has not been a case reported. We experienced a neonate with multiple costovertebral anomalies and bilateral lumbar hernia with liver and small intestine herniation diagnosed by physical examination and computed tomography. We report a case of a congenital lumbocostovertebral syndrome in neonate with literature review.

A Tapping the usefulness of Whole Blood Interferon-gamma Assay for Diagnosing Tuberculosis Infection in Children / 결핵및호흡기질환

BACKGROUND: QuantiFERON(R)-TB Gold In Tube (QFT-G IT) has been used for diagnosing latent tuberculosis infection and active tuberculosis (TB) since 2007. However, there has not been enough data on QFT-G IT for universal use in children. In this study, we evaluated the clinical usefulness of the QFT-G IT in pediatric practice. METHODS: We retrospectively reviewed the clinical records of 70 patients younger than 18 years of age who had taken QFT-G IT and had a tuberculin skin test (TST) between July 2007 and July 2009 at Wonju Christian Hospital. The subjects were divided into two groups, asymptomatic TB exposure group and disease group. Four patients who were taking immunosuppressants during the study period were excluded. RESULTS: A total of 66 immunocompetent children were included in this study. Among 27 asymptomatic children who had contact histories of TB, 6 (22.2%) were found to be positive by QFT-G IT. Eleven (40.7%) and 5 (18.5%) children were found to be positive by TST with cutoff values of > or =5 mm and > or =10 mm, respectively. Agreement was fair to good between QFT-G IT and TST (kappa=0.59: cutoff value > or =5 mm, kappa=0.7: cutoff value > or =10 mm). In disease group, 14 patients (35.9%) were diagnosed with active tuberculosis, 8/14 (57.1%) were positive on TST and 9/14 (64.3%) on QFT-G IT. The positive rate of acid-fast bacilli smear, TB-polymerase chain reaction, and culture for tuberculosis was 11% (1/9), 27.3% (3/11) and 33.3% (3/9), respectively. CONCLUSION: Our data support that the QFT-G IT can be used as an additional diagnostic tool for latent and active tuberculosis infection in children.

Rehospitalization Rate and Medical Cost of Infants in the First Year after Discharge from Neonatal Intensive Care Units

PURPOSE: Because infants who have been hospitalized in the neonatal intensive care unit (NICU) are usually ill or premature, they are hospitalized repeatedly after their discharge. We intended to survey the frequencies and the medical costs of those rehospitalizations. METHODS: The NICUs of 7 major hospitals were included. The subjects were 3,451 infants that were admitted to the NICU from July 2005 to June 2006, and discharged to home. The frequency, causes, mean cost and distribution and proportion of National Health Insurance coverage and non covered costs were analyzed. RESULTS: The rate of rehospitalization after discharge from the NICU over 1 year was 14.8%. If multiple cases are considered as individual cases, it is 21.7%. The major causes of admission were pneumonia (15.8%), bronchiolitis (14.5%), gastroenteritis (10.4%), urinary tract infection (6.3%) and sepsis (6.3%). The mean cost for each admission was 1,652 thousand won. The mean cost of National Health Insurance coverage was 1,170 thousand won and non covered coat were 472 thousand won 70.9% and 28.6% respectively. CONCLUSION: The ratio of rehospitalization of infants after their discharge from the NICU over 1 year was approximately 20% and it means that follow-up management of these infants is very important and meticulous concerns after discharge should be given. However the rehospitalization and the non-coverage proportion of National Health Insurance cost is considerably high. It strongly implies that National Health Insurance should cover much more proportion, and personal cost exemption should be proceeded in case of rehospitalization of infants after discharge from the NICU.

Patient Distribution and Hospital Admission Costs in Neonatal Intensive Care Units: Collective Study of 7 Hospitals in Korea during 2006

PURPOSE:The characteristics of hospitalized patients in neonatal intensive care units (NICUs), including hospitalization costs (HC) and National Health Insurance (NHI) status were studied. METHODS:We gathered the following data from 7 hospitals in Korea during 2006: the distribution of patients according to birth weight (BW), and the duration of the hospital stay according to BW and HC. RESULTS:The patients who were admitted to the NICU consisted of high-risk neonates, including low birth weight or premature neonates, which comprised 50% of all neonates admitted to the NICU. The duration of hospitalization was 75-90 days for neonates with BW 25% of the total HC. For this matter, additional NHI is needed.

A Case of Hunter Syndrome / 대한피부과학회지

We report a case of Hunter syndrome in a 4 year old boy, who presented with firm skin colored papules and nodules that coalesce to form a reticular pattern (pebbling of the skin) with extensive Mongolian spots. The lesions are arranged bilaterally and symmetrically over the scapulae, upper arm and lateral aspects of the thighs. He also has low intelligence, coarse face, saddle nose and claw hand contracture of both hands. The result of qualitative analysis of urine was positive for dermatan sulfate and heparan sulfate. And enzyme activity of iduronate-2-sulfatase is decreased in plasma and leukocyte. A skin biopsy specimen section stained with hematoxylin-eosin showed widely separated collagen bundles in the dermis associated with mucin deposition.

A Case of Partial Trisomy 9p Syndrome with 3-Ketothiolase Deficiency / 대한소아신경학회지

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.

Comparative Study of Febrile or Benign Seizures Associated with Acute Gastroenteritis / 대한소아신경학회지

PURPOSE:Acute gastroenteritis is one of the causes of febrile seizures or benign seizures in children. This study was performed to find out the clinical characteristics and the prognosis of convulsions by acute gastroenteritis. METHODS:From January 2000 to December 2004, sixty five pediatric patients who suffered from convulsions due to acute gastroenteritis were classified into benign seizures (n=36) or febrile seizures(n=29) in Wonju Christian Hospital, Wonju College of Medicine, Yonsei University. We compared the age of onset, sex, the frequency and the duration of convulsions, blood electrolytes and peripheral white blood cell counts, findings of the cerebrospinal fluid examination, and the electroencephalograms between the two groups. In addition, we retrospectively analyzed their recurrence of convulsive diseases for 7 to 59 months after the first attacks. RESULTS:There was no difference of onset age, frequency and duration of convulsion between the two groups(P=0.12, P=0.83 and P=0.08). The types of convulsions were generalized seizures in both groups. There were 16 cases of positive responses to the antigen tests for stool rotavirus, and 12 of them(75%) belonged to the benign seizure group. And other laboratory findings were normal. During the follow-up period, 4 patients(11.1%) in the benign seizure group experienced febrile seizures, 2 patients(5.6%) benign seizures and 1 patient a generalized tonic-clonic seizure, whereas 3 patients(10.3%) in the febrile seizure group experienced simple febrile seizures. CONCLUSION:The comparative analysis between the benign seizure and the febrile seizure groups revealed no significant differences on the clinical characteristics except the number of positive responses to the rotavirus antigen tests in stool. And the recurrence rates of convulsions in both groups were similar with previous studies which showed no significant differences between the two groups.

Serum Albumin Concentrations and Clinical Disorders by Gestational Ages in Preterm Babies / 소아과

PURPOSE: The aim of this study was to determine the reference ranges of serum albumin levels depending on the gestational ages of preterm infants. We also intended to compare the mean serum albumin levels between groups of preterm infants that did not develop clinical disorders later, and groups that did develop clinical disorders such as respiratory distress syndrome, intraventricular hemorrhage, retinopathy of prematurity, apnea and bronchopulmonary dysplasia. We also examined the significance of serum albumin as a predictor for the development of clinical disorders. METHODS: The records of 208 neonates with gestational ages from 23 weeks to 41 weeks were reviewed retrospectively. The mean albumin concentrations with reference ranges by gestational ages were determined. Statistics for each two of group were compared. Logistic regression analysis was used to model odd ratio, and 95 percent confidence interval as a mean of the association between predictors and outcome. RESULTS: Serum albumin levels were at 23-24 weeks gestation was 2.36 g/dL, rising to 3.43 g/dL in full term babies. There were significant mean differences between the clinical groups and control groups for each clinical disorder such as respiratory distress syndrome, intraventricular hemorrhage, retinopathy of prematurity and apnea in premature babies of 30-36 weeks of gestation. Low serum albumin appeared to be associated with increased risks of clinical disorders. CONCLUSION: The normal serum albumin levels in preterm infants should be defined according to the gestational ages. Lower albumin levels increase the risks of the later development of clinical disorders, which are common in premature infants.

Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening

We report a case of 15 days old newborn presenting with hypergalactosemia detected by newborn screening who had intrahepatic arterio-venous shunts with multiple pin-head sized cutaneous hemangiomas. Plasma level of galactose was elevated to 11.3 mg/dL at age of 7 days, but the activity of galactose-metabolizing enzymes including galactose-1- phosphate uridyltransferase, galactokinase, and uridine diphosphate galactose-4-epimerase were all normal. Intrahepatic arterio-venous shunts were diagnosed by abdominal ultrasonography with color doppler ultrasonography and abdominal computed tomography. At age of 3 months, the plasma level of galactose further elevated to 14.73 mg/dL, at which time lactose-free cows milk formula was started. At age of 6 months, the plasma level of galactose decreased to within normal range with disappearance of previously noted multiple cutaneous hemangiomas. In hypergalactosemia of the newborn, the intrahepatic shunts should be considered as a possible cause, once hereditary enzyme deficiencies have been ruled out.

Salmonella enterica Serovar London Infections Associated with Consumption of Infant Formula

Epidemiologic studies were conducted on 31 cases of Salmonella group E infection detected in 2000 through a laboratory-based pathogen surveillance in Gangwon Province, Korea. Data were collected on the environmental exposures and the patients' foods, including the brand (s) of milk consumed before the onset of diarrhea. The patients' medical records were also reviewed. All of the patients were infants under 10 months of age except one 7-year old child. Surprisingly, all of the infants were fed with infant formulas from Company A, although two infants were fed with infant formulas from both Company A and Company B. Antimicrobial susceptibility test and pulsed-field gel electrophoresis (PFGE) were performed in 25 out of 31 isolates from the patients and in 1 isolate from an opened packet of infant formula collected from the home of an infected infant. All of the 26 isolates were Salmonella enterica serovar London. They showed a single PFGE pattern, and all of the isolates were susceptible to the 18 antibiotics tested. The causative agent of the salmonella outbreaks in the Gangwon Province and its surrounding areas was Salmonella London, and the highly likely source of the infection was infant formula from Company A.

A Case of Intracerebral Thrombosis and Cortical Hemorrhage Complicated by Streptococcus pneumoniae Meningitis / 대한소아신경학회지

Streptococcus pneumoniae is the most common pathogen of bacterial meningitis in childhood. It causes such intracranial complications as hydrocephalus, cerebral edema, inappropriate secretion of antidiuretic hormone(SIADH), and convulsion, and also such cerebral vascular complications as vasculitis, thrombosis, aneurysm, infarction, and subarachnoid hemorrhage. We report a male of 4 months old who had intracerebral cortical hemorrhage and sinovenous thrombosis complicated by streptococcus pneumoniae meningitis. Also, we reviewed the literature on intracerebral vascular complications related to bacterial meningitis.

Down Syndrome with Transient Myeloproliferative Disorder, Hepatic Fibrosis, and Hemochromatosis

Transient myeloproliferative disorder (TMD), which may mimic acute leukemia, occurs in neonates with Down syndrome along with hepatic fibrosis. TMD is recognized shortly after birth or in the neonatal period and is characterized by leukocytosis and thrombocytopenia, which resolve spontaneously in four to six weeks. And hepatic fibrosis is characterized by diffuse intralobular sinusoidal fibrosis, extramedullary hematopoiesis and hemochromatosis. A newborn male infant with Down syndrome, atrial septal defect and ventricular septal defect is reported. He showed abnormal myelopoiesis accompanying characteristic hepatic sinusoidal fibrosis. Knowing the cellular mechanism of hepatic fibrosis and its modulation by growth factors, a pathogenetic link between transient myeloproliferative disorder and the development of liver fibrosis in Down syndrome neonates, association of this triad no longer appears to be accidental.

Peak expiratory flow rate in atopic dermatitis / 천식및알레르기

BACKGROUND AND OBJECTIVE: There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. There are many risk factors affecting allergic march such as expanded exposure to multi-allergens, family history of atopy and other environmental factors etc. In this study, we tried to check PEFR in atopic dermatitis children before development of asthma and to determine whether the PEFR can be a predicting factor of asthma. METHODS: Nineteen atopic dermatitis children(group A), 21 atopic dermatitis children with asthma(group B) and 25 control children were enrolled in this study. We checked the PEFR in each subject and calculated the % predicted value. We compared the value of PEFR in each group. RESULTS: Males were predominant in all study groups and the mean ages of the subjects were 5.9 years in group A, 6.8 years in group B, and 8.7 years in control group. The % predicted values of PEFR were 86.57+/-7.32 in group A, 88.16+/-10.33 in group B, and 100.68+/-17.56 in control group. There was a significant difference of PEFR between group A and control group. Additionally, the PEFR in house dust mite sensitive group was lower than that of house dust mite allergen insensitive group among atopic dermatitis group. CONCLUSION: The lower value of PEFR in atopic dermatitis group suggests that there is some degree of pulmonary obstruction, even if bronchial asthma does not occur. Therefore, the PEFR of atopic dermatitis can be a predicting factor for the development of asthma.

A Case of Kinky Hair Disease / 대한소아신경학회지

Kinky hair disease is X-linked recessive neurodegenerative disorder produced by defects in a gene(ATP7A) that encodes an intracellular copper-transporting ATPase. About 90-95% of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with Menkes disease show great variety from cytogenetic abnormalities to partial gene deletions to single base-pair changes. We experienced a 15 month-old boy with loss of developmental milestones, hypotonia, seizures and failure to thrive. On laboratory findings, the levels of serum copper and ceruloplasmin were low. Electron microscopy of hair illustrated pathognomic pili torti and other abnormalities such as trichorrhexis nodosa and trichoptilosis(longitudinal splitting of the shaft). Brain magnetic resonance image showed diffuse cerebral and cerebellar atrophy with tortousity of cerebral blood vessels. Genetic defect was evaluated. Our sequencing data on the amplified exon 19 of ATP7ase genomic DNA confirmed point mutation, G1255A, resulting in a glycine-to-arginine conversion. So, we report a brief view with the related literatures.

A Case of Vascular Leak Syndrome During Induction Chemotherapy of Acute Lymphoblastic Leukemia (T Cell Type)

Vascular leak syndrome(VLS) is characterized by endothelial damage, which causes extravasation of plasma proteins and fluid from capillaries into the extravascular space. It has been suggested that the increased vascular permeability is the result of an IL-2-induced suppression of endothelin-1 secretion by endothelial cells, an IL-2-induced activation of the complement cascade or TNF-alpha release from IL-2-activated T-cells. A 13-year-old male patient visited our hospital with abdominal pain. He was diagnosed with acute lymphoblastic leukemia(T cell type) by bone marrow study on his 2 nd day in hospital. On the 3 rd day of induction chemotherapy(prednisone, L-asparaginase, vincristine, intrathecal methotrexate), pulmonary edema and pleural effusion, ascites and generalized edema developed and lasted for 53 days without responding to supportive care. The laboratoy finding was that TNF-alpha was increased without evidence of infection and hypoalbuminemia was noted. It was suggested that the patient's clinical feature was induced by VLS.

A Case of Acute Lymphoblastic Leukemia Preceded by Aleukemic Prodrome / 대한소아혈액종양학회지

Acute lymphoblastic leukemia (ALL), in general, can be diagnosed by detecting blasts in peripheral blood or bone marrow. Some of the cases of ALL do not show typical leukemic features, and only manifest as refractory anemia, thrombocytopenia, myelofibrosis and lymphocytic infiltration into bone marrow. Several months after presentation, they may reveal typical leukemic features and are diagnosed as ALL. This kind of leukemia is called ALL with aleukemic prodrome. Although the incidence of ALL with aleukemic prodrome is 1.5~2.2% of childhood ALL cases, it is rarely reported in Korea. We experienced a 6 month-old female infant who presented with refactory anemia and thrombocytopenia, and two serial of bone marrow examination revealed only myelofibrosis. She subsequently developed ALL 3 months later. We report this case with a brief review of related literatures.

A Case of Malignant Extrarenal Rhabdoid Tumor

Malignant Rhabdoid tumor is a rare malignant neoplasm and is morphologically similar to rhabdomyosarcoma, but is different immunohistochemically. Most malignant rhabdoid tumors occur in the kidney of infants, and are rarely reported at extrarenal sites. Since Frierson and his collagues first described the malignant extrarenal rhabdoid tumor(MRT) in children in 1985, it has rarely been reported. The neoplasm is histologically and immunohistochemically identical to a renal malignant rhabdoid tumor. There have been no previous reports of this neoplasm in Korea. An MRT of the sacroiliac bone in a 11-year-old girl is described. Five months after the initial presentation, the patient is still alive with partial response to combination chemotherapy and radiotherapy. The authors review previous reports of extrarenal MRT, and discuss the pathologic characteristics, differential diagnosis, and treatment of this rare neoplasm.

A Case of Propionic Acidemia

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.

Risk Factors of Recurrent Febrile Convulsion / 대한소아신경학회지

PURPOSE: Febrile convulsion (FC) is the most common type of seizure disorder during childhood. The most frequent sequale after the first FC is the recurrence of another FC. A number of risk factors associated with the recurrence have been identified. We evaluated the factors associated with the recurrence of FC. METHOD: The recurrence rates of FC by the predictive factors of recurrence were retrospectively evaluated in a cohort of 214 Korean children who were admitted to the Pediatric Depatment of the Yonsei University Wonju College of Medicine, from January 1996 to December 1997. RESULT: The overall recurrence rate of FC was 56.1% and the cumulative rates of the recurrent cases by intervals between the initial onset and recurrence were 52.5% by 6 months, 82.5% by 12 months, and 89.2% by 24 months. When the onset of the first FC occurred less than 12 months of age, the recurrence rate (66.1%) was significantly higher than that of the other age groups of the onset (p<0.05). There were no differences in the recurrence rate by the other predictive factors-durations of the initial FC, seizure type of the initial FC, the recurrence during the first 24 hours after the initial FC, and the family histories of FC or epilepsy. CONCLUSION: We can conclude that the recurrence of FC statistically correlated with the age at onset, especially less than 12 months old. And we recommend that it may be necessary to prophylactically treat recurrence of FC if the first FC occurred at less than 12 months of age.

A Case of Propionic Acidemia

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.