No abstract available.

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs*21) as a hemizygous form.
Eczema ; Herpes Simplex ; Humans ; Intracranial Hemorrhages ; Methylmethacrylates ; Parturition ; Polystyrenes ; Sequence Deletion ; Siblings ; Thrombocytopenia ; Wiskott-Aldrich Syndrome ; X Chromosome

Dapsone (4,4'-diaminodiphenylsulfone, DDS), a potent anti-inflammatory agent, is widely used in the treatment of leprosy and several chronic inflammatory skin diseases. Dapsone therapy rarely results in development of dapsone hypersensitivity syndrome, which is characterized by fever, hepatitis, generalized exfoliative dermatitis, and lymphadenopathy. Here, we describe the case of an 11-year-old Korean boy who initially presented with high fever, a morbilliform skin rash, generalized lymphadenopathy, hepatosplenomegaly, and leukopenia after 6 weeks of dapsone intake. Subsequently, he exhibited cholecystitis, gingivitis, colitis, sepsis, aseptic meningitis, disseminated intravascular coagulation, syndrome of inappropriate antidiuretic hormone secretion, pneumonia, pleural effusions, peritonitis, bronchiectatic changes, exfoliative dermatitis, and acute renal failure. After 2 months of supportive therapy, and prednisolone and antibiotic administration, most of the systemic symptoms resolved, with the exception of exfoliative dermatitis and erythema, which ameliorated over the following 4 months. Agranulocytosis, atypical lymphocytosis, aseptic meningitis, and bronchiectatic changes along with prolonged systemic symptoms with exfoliative dermatitis were the most peculiar features of the present case.
Acute Kidney Injury ; Agranulocytosis ; Bronchiectasis ; Child ; Cholecystitis ; Colitis ; Dapsone ; Dermatitis, Exfoliative ; Disseminated Intravascular Coagulation ; Erythema ; Exanthema ; Fever ; Gingivitis ; Hepatitis ; Humans ; Hypersensitivity ; Leprosy ; Leukopenia ; Lymphatic Diseases ; Lymphocytosis ; Meningitis, Aseptic ; Multiple Organ Failure ; Peritonitis ; Pleural Effusion ; Pneumonia ; Prednisolone ; Sepsis ; Skin Diseases

PURPOSE: Retinoblastoma (RB) is the most common primary malignant intraocular tumor in children. Although systemic chemotherapy has been the primary treatment, intra-arterial chemotherapy (IAC) represents a new treatment option. Here, we performed alternate systemic chemotherapy and IAC and retrospectively reviewed the efficacy and safety of this approach. METHODS: Patients diagnosed with intraocular RB between January 2000 and December 2011 at Severance Children's Hospital, Yonsei University, were reviewed. Before February 2010, the primary treatment for RB was chemotherapy (non-IAC/CTX). Since February 2010, the primary treatment for RB has been IAC (IAC/CTX). External beam radiotherapy or high-dose chemotherapy were used as "last resort" treatments just prior to enucleation at the time of progression or recurrence during primary treatment. Enucleation-free survival (EFS) and progression-free survival were assessed. RESULTS: We examined 19 patients (median age, 11.9 months; range, 1.4 to 75.6 months) with a sum of 25 eyes, of which, 60.0% were at advanced Reese Ellsworth (RE) stages. The enucleation rate was 33.3% at early RE stages and 81.8% at advanced RE stages (P=0.028). At 36 months, EFS was significantly higher in the IAC/CTX group than in the non-IAC/CTX group (100% vs. 40.0%, P=0.016). All 5 patients treated with IAC achieved eye preservation, although most patients were at advanced RE stages (IV-V). CONCLUSION: Despite the limitation of a small sample size, our work shows that an alternative combined approach using IAC and CTX may be safe and effective for eye preservation in advanced RB.
Child ; Disease-Free Survival ; Drug Therapy, Combination ; Eye ; Eye Enucleation ; Humans ; Infusions, Intra-Arterial ; Recurrence ; Retinoblastoma ; Retrospective Studies ; Sample Size

PURPOSE: In children with acute leukemia, bone marrow genetic abnormalities (GA) have prognostic significance, and may be the basis for minimal residual disease monitoring. Since April 2007, we have used a multiplex reverse transcriptase-polymerase chain reaction tool (HemaVision) to detect of GA. METHODS: In this study, we reviewed the results of HemaVision screening in 270 children with acute leukemia, newly diagnosed at The Catholic University of Korea from April 2007 to December 2011, and compared the results with those of fluorescence in situ hybridization (FISH), and G-band karyotyping. RESULTS: Among the 270 children (153 males, 117 females), 187 acute lymphoblastic leukemia and 74 acute myeloid leukemia patients were identified. Overall, GA was detected in 230 patients (85.2%). HemaVision, FISH, and G-band karyotyping identified GA in 125 (46.3%), 126 (46.7%), and 215 patients (79.6%), respectively. TEL-AML1 (20.9%, 39/187) and AML1-ETO (27%, 20/74) were the most common GA in ALL and AML, respectively. Overall sensitivity of HemaVision was 98.4%, with false-negative results in 2 instances: 1 each for TEL-AML1 and MLL-AF4. An aggregate of diseasesspecific FISH showed 100% sensitivity in detection of GA covered by HemaVision for actual probes utilized. G-band karyotype revealed GA other than those covered by HemaVison screening in 133 patients (49.3%). Except for hyperdiplody and hypodiploidy, recurrent GA as defined by the World Health Organizationthat were not screened by HemaVision, were absent in the karyotype. CONCLUSION: HemaVision, supported by an aggregate of FISH tests for important translocations, may allow for accurate diagnosis of GA in Korean children with acute leukemia.
Bone Marrow ; Child ; Fluorescence ; Humans ; In Situ Hybridization ; Karyotype ; Karyotyping ; Korea ; Leukemia ; Leukemia, Myeloid, Acute ; Male ; Mass Screening ; Neoplasm, Residual ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; World Health

PURPOSE: The cardiopulmonary exercise test (CPET) is an important clinical tool for evaluating exercise capacity and is frequently used to evaluate chronic conditions including congenital heart disease. However, data on the normal CPET values for Korean children and adolescents are lacking. The aim of this study was to provide reference data for CPET variables in children and adolescents. METHODS: From August 2006 to April 2009, 76 healthy children and adolescents underwent the CPET performed using the modified Bruce protocol. Here, we performed a medical record review to obtain data regarding patient' demographics, medical history, and clinical status. RESULTS: The peak oxygen uptake (VO2Peak) and metabolic equivalent (METMax) were higher in boys than girls. The respiratory minute volume (VE)/CO2 production (VCO2) slope did not significantly differ between boys and girls. The cardiopulmonary exercise test data did not significantly differ between the boys and girls in younger age group (age, 10 to 14 years). However, in older age group (age, 15 to 19 years), the boys had higher VO2Peak and METMax values and lower VE/VCO2 values than the girls. CONCLUSION: This study provides reference data for CPET variables in case of children and adolescents and will make it easier to use the CPET for clinical decision-making.
Adolescent ; Bacterial Toxins ; Child ; Demography ; Exercise Test ; Heart Diseases ; Humans ; Medical Records ; Metabolic Equivalent ; Oxygen

Repair of tetralogy of Fallot (TOF) has shown excellent outcomes. However it leaves varying degrees of residual hemodynamic impairment, with severe pulmonary stenosis (PS) and free pulmonary regurgitation (PR) at both ends of the spectrum. Since the 1980s, studies evaluating late outcomes after TOF repair revealed the adverse impacts of residual chronic PR on RV volume and function; thus, a turnaround of operational strategies has occurred from aggressive RV outflow tract (RVOT) reconstruction for complete relief of RVOT obstruction to conservative RVOT reconstruction for limiting PR. This transformation has raised the question of how much residual PS after conservative RVOT reconstruction is acceptable. Besides, as pulmonary valve replacement (PVR) increases in patients with RV deterioration from residual PR, there is concern regarding when it should be performed. Regarding residual PS, several studies revealed that PS in addition to PR was associated with less PR and a small RV volume. This suggests that PS combined with PR makes RV diastolic property to protect against dilatation through RV hypertrophy and supports conservative RVOT enlargement despite residual PS. Also, several studies have revealed the pre-PVR threshold of RV parameters for the normalization of RV volume and function after PVR, and based on these results, the indications for PVR have been revised. Although there is no established strategy, better understanding of RV mechanics, development of new surgical and interventional techniques, and evidence for the effect of PVR on RV reverse remodeling and its late outcome will aid us to optimize the management of TOF.
Dilatation ; Heart Failure ; Hemodynamics ; Humans ; Hypertrophy ; Mechanics ; Pulmonary Valve ; Pulmonary Valve Insufficiency ; Pulmonary Valve Stenosis ; Tetralogy of Fallot

This article contains the recommended immunization schedule by the Committee on Infectious Diseases of the Korean Pediatric Society, updated in March 2013, when Haemophilus influenzae type b vaccine is now included in the National Immunization Program in Korea. It also includes catch-up immunization schedule for children and adolescents who are behind the recommended schedule. These schedules are a minor revision of the corresponding parts of Immunization Guideline, 7th edition, of the Korean Pediatric Society, released in 2012. Pediatricians should be aware of these schedules to provide adequate immunization to Korean children and adolescents.
Adolescent ; Appointments and Schedules ; Child ; Communicable Diseases ; Haemophilus influenzae type b ; Humans ; Immunization ; Immunization Programs ; Immunization Schedule ; Infant ; Korea

PURPOSE: To report our experience of gastrointestinal (GI) operations (OP) performed in very low birth weight infants (VLBWI) and to evaluate their clinical characteristics. METHODS: Among the 1,117 VLBWI admitted to the SMC neonatal intensive care unit from November 1994 to February 2007, the medical records of 37 infants who underwent GI OP (except inguinal hernia OP) and 1,080 VLBWI without GI OP were retrospectively reviewed. RESULTS: The mean gestational age (27(+6)2(+3) vs. 28(+5)+/-2(+6)) and birth weight (979+/-241 g vs. 1,071+/-271 g) of the 37 VLBWI who underwent the GI OP was lower than the VLBWI without GI OP group (n=1,080). Mortality rates in the GI OP group were significantly higher than in the non GI OP group (28% vs. 15%, P<0.001). The incidence of cholestasis, retinopathy of prematurity and periventricular leukomalacia were higher in the GI OP group than in the non GI OP group, but the incidence of bronchopulmonary dysplasia was not significantly different between the GI OP group and the non GI OP group. For GI OP indications, focal intestinal perforation was most common and showed a more favorable outcome than necrotizing enterocolitis. Compared with an earlier 7-year period, 1994-2000, the incidence and survival rates increased in the subsequent 2001-2007 period. CONCLUSION: GI OP was associated with high mortality and morbidity in VLBWI. Further efforts to improve outcomes of GI OP in VLBWI should be investigated to improve the quality of care in VLBWI.
Birth Weight ; Bronchopulmonary Dysplasia ; Cholestasis ; Enterocolitis, Necrotizing ; Gestational Age ; Hernia, Inguinal ; Humans ; Incidence ; Infant ; Infant, Extremely Low Birth Weight ; Infant, Newborn ; Infant, Very Low Birth Weight ; Intensive Care, Neonatal ; Intestinal Perforation ; Laparotomy ; Leukomalacia, Periventricular ; Medical Records ; Retinopathy of Prematurity ; Retrospective Studies ; Survival Rate

PURPOSE: To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. METHODS: From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. RESULTS: Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9%) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and newborn screening tests. CONCLUSION: Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.
Child ; Autism Spectrum Disorder ; Diagnostic Tests, Routine ; Electroencephalography ; Evoked Potentials, Auditory, Brain Stem ; Hearing ; Humans ; Infant, Newborn ; Intellectual Disability ; Karyotyping ; Language Development Disorders ; Magnetic Resonance Imaging ; Malformations of Cortical Development ; Mass Screening ; Neurology ; Neuropsychological Tests ; Retrospective Studies