PURPOSE: Incomplete Kawasaki disease (KD) is frequently associated with delayed diagnosis and treatment. Delayed diagnosis leads to increasing risk of coronary artery aneurysm. Anterior uveitis is an important ocular sign of KD. The purpose of this study was to assess differences in laboratory findings, including echocardiographic measurements, clinical characteristics such as fever duration and treatment responses between KD patients with and those without uveitis. METHODS: We conducted a prospective study with 110 KD patients from January 2008 to June 2013. The study group (n=32, KD with uveitis) was compared with the control group (n=78, KD without uveitis). Laboratory data were obtained from each patient including complete blood count (CBC), erythrocyte sedimentation rate (ESR), platelet count, and level of alanine aminotransferase, aspartate aminotransferase, serum total protein, albumin, C-reactive protein (CRP), and N-terminal probrain natriuretic peptide (NT-pro BNP). Echocardiographic measurements and intravenous immunoglobulin responses were compared between the two groups. RESULTS: The incidence of uveitis was 29.0%. Neutrophil counts and patient age were higher in the uveitis group than in the control group. ESR and CRP level were slightly increased in the uveitis group compared with the control group, but the difference between the two groups was not significant. No significant differences in coronary arterial complication and treatment responses were observed between the two groups. CONCLUSION: Uveitis is an important ocular sign in the diagnosis of incomplete KD. It is significantly associated with patient age and neutrophil count.
Alanine Transaminase ; Aneurysm ; Aspartate Aminotransferases ; Blood Cell Count ; Blood Sedimentation ; C-Reactive Protein ; Coronary Vessels ; Delayed Diagnosis ; Diagnosis ; Early Diagnosis* ; Echocardiography ; Fever ; Humans ; Immunoglobulins ; Incidence ; Mucocutaneous Lymph Node Syndrome* ; Natriuretic Peptide, Brain ; Neutrophils ; Platelet Count ; Prospective Studies ; Uveitis* ; Uveitis, Anterior

BACKGROUND AND OBJECTIVES: Respiratory symptoms are often observed in children with Kawasaki disease (KD) during the acute phase. The association of respiratory viruses in children with KD was investigated using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) and tissue Doppler echocardiography. SUBJECTS AND METHODS: 138 KD patients were included from January 2010 to June 2013. We compared 3 groups (group 1: n=94, KD without respiratory symptoms; group 2: n=44, KD with respiratory symptoms; and group 3: n=50, febrile patients with respiratory symptoms). Laboratory data were obtained from each patient including N-terminal pro-brain natriuretic peptide (NT-proBNP). Echocardiographic measurements were compared between group 1 and group 2. RT-PCR was performed using nasopharyngeal secretion to screen for the presence of 14 viruses in groups 2 and 3. RESULTS: The incidence of KD with respiratory symptoms was 31.8%. The duration of fever was significantly longer, and coronary artery diameter was larger in group 2 than in group 1. Tei index was significantly higher and coronary artery diameter larger in group 2 than group 1. Coronary artery diameter, C-reactive protein levels, platelet count, alanine aminotransferase levels, and NT-pro BNP levels were significantly higher and albumin levels lower in group 2 compared with group 3. CONCLUSION: NT-pro BNP was a valuable diagnostic tool in differentiating KD from other febrile viral respiratory infections. Some viruses were more frequently observed in KD patients than in febrile controls. Tei index using tissue Doppler imaging was increased in KD patients with respiratory symptoms.
Alanine Transaminase ; C-Reactive Protein ; Child ; Coronary Vessels ; Echocardiography ; Echocardiography, Doppler ; Fever ; Humans ; Incidence ; Mucocutaneous Lymph Node Syndrome* ; Natriuretic Peptide, Brain ; Platelet Count ; Respiratory Tract Infections ; Reverse Transcriptase Polymerase Chain Reaction

A 10-year-old boy with severe aplastic anemia was admitted for allogeneic hematopoietic stem cell transplantation. After conditioning chemotherapy using cyclophosphamide, fludarabine, and antithymocyte immunoglobulin, he presented with fever and abdominal pain on day 0 of stem cell transplantation. After diagnosis of acute appendicitis with minor perforation, appendectomy was performed just after cell infusion. A week after the procedure, he showed two huge liver abscesses in S4 and S6 segments. We used broad spectrum antibiotics along with antifungal agents. Percutaneous drainage was attempted, but no fluid was removed and no microorganisms were isolated. After 7 weeks of antibiotics and antifungal therapy, liver abscesses showed improvement. We report a case of successfully treated appendicitis with liver abscesses in a severely neutropenic patient during allogeneic hematopoietic stem cell transplantation.
Abdominal Pain ; Anemia, Aplastic ; Anti-Bacterial Agents ; Antifungal Agents ; Appendectomy ; Appendicitis ; Child ; Cyclophosphamide ; Diagnosis ; Drainage ; Drug Therapy ; Fever ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunoglobulins ; Liver Abscess ; Male ; Stem Cell Transplantation ; Typhlitis

PURPOSE: Thrombocytopenia is the most common hematologic abnormality diagnosed in the neonatal intensive care unit (NICU). We investigated the causes and neonatal outcomes of early-onset thrombocytopenia in preterm neonates and compared clinical outcomes between neonates in an early-onset thrombocytopenia group who have received and those who have not received platelet transfusion in order to assess the clinical significance of early-onset thrombocytopenia in preterm infants. METHODS: We retrospectively reviewed the medical records of preterm neonates born earlier than 34 weeks' gestation who were admitted to the NICU between January 2005 and September 2014. 412 preterm neonates born earlier than 34 weeks' gestation were enrolled. The early-onset thrombocytopenia group (n=90) had a platelet count < or =150,000/mL within the first 72 hours of life. We investigated maternal and neonatal characteristics, and neonatal outcomes in the group and compared these with those of a control group (n=322). RESULTS: The neonates with early-onset thrombocytopenia tended to have lower gestational age, birth weight and Apgar scores than controls. Maternal hypertension and lower Apgar score at birth were predictive factors of early-onset thrombocytopenia. No differences in clinical outcomes were observed between the two groups. Clinical outcomes did not significantly different between the groups regardless of whether the neonates received platelet transfusion or not. CONCLUSION: Early-onset thrombocytopenia had no effect on the neonatal outcomes of the preterm infants. Platelet transfusion did not affect the clinical outcomes of the neonates in the early-onset thrombocytopenia group. Thus, we suggest a lager controlled study on early-onset thrombocytopenia in newborns in order to establish more-efficient treatment guidelines.
Apgar Score ; Birth Weight ; Gestational Age ; Humans ; Hypertension ; Infant, Newborn* ; Infant, Premature ; Intensive Care, Neonatal ; Medical Records ; Parturition ; Platelet Count ; Platelet Transfusion ; Pregnancy ; Prognosis ; Retrospective Studies ; Thrombocytopenia*

Lange-Giedion syndrome, or trichorhinophalangeal syndrome type 2 (TRPSII), is a clinical syndrome characterized by mild growth restriction, mental retardation, microcephaly and dysmorphic face. Bulbous nose, large protruding ears and loose redundant skin are distinguishing features, as well as lax joints and phalangeal abnormalities of the hands and multiple exostoses. TRPS1 and EXT1 gene deletion are responsible for this. Diagnosis is mainly based on clinical and radiographic features. In Korea, no cases of this disease have been reported thus far. Along with a review of the literature, we report a case of TRPSII in a neonate who had peculiar face representing TRPSII, polydactyly, Mullerian duct cyst, and ptosis and was found to have an interstitial deletion of 8q23-24.1.
Diagnosis ; Ear ; Exostoses, Multiple Hereditary ; Gene Deletion ; Hand ; Humans ; Infant, Newborn ; Intellectual Disability ; Joints ; Korea ; Langer-Giedion Syndrome* ; Microcephaly ; Nose ; Polydactyly ; Skin

OBJECTIVES: Since the awareness of autism spectrum disorders(ASD) is growing, as a result, it is increasing numbers of infants and toddlers being referred to specialized clinics for a differential diagnosis and the importance of early autism spectrum disorders detection is emphasized. This study is to know the difference between ASD and intellectual disability(ID) from comparison of the demographics, clinical characters and obstetric complications. METHODS: The participants are 816 toddlers who visited the developmental delay clinic(DDC) in National Health Insurance Ilsan hospital. The number of toddlers diagnosed as ASD and ID was 324 and 492. 75 toddlers out of 114 who returned to DDC were diagnosed as ID at the first visit but 7 of them had changed diagnosis to ASD at the second visit. After compared ASD with ID from the first visit, we analyzed characters of toddlers who had the changed diagnosis to ASD at the second visit. RESULTS: As a result, the comparison between ASD and ID at the first visit shows that the boys have higher ratio, lower obstetric complication and lower language assessment score in ASD. The toddlers who had the changed diagnosis at the second visit were all boys and they had more cases of family history of developmental delay and had lower score of receptive language developmental quotient. CONCLUSIONS: These findings suggest that sex, language characteristics and obstetric complication could be useful in the early detection of ASD.
Autism Spectrum Disorder* ; Autistic Disorder* ; Demography ; Diagnosis ; Diagnosis, Differential ; Humans ; Infant ; Intellectual Disability* ; Language Development ; National Health Programs

PURPOSE: High-functioning autism spectrum disorder (ASD) involves pragmatic impairment of language skills. Among numerous tasks for assessing pragmatic linguistic skills, idioms are important to evaluating high-functioning ASD. Nevertheless, no assessment tool has been developed with specific consideration of Korean culture. Therefore, we designed the Korean Autism Social Language Task (KASLAT) to test idiom comprehension in ASD. The aim of the current study was to introduce this novel psychological tool and evaluate idiom comprehension deficits in high-functioning ASD. MATERIALS AND METHODS: The participants included 42 children, ages 6-11 years, who visited our child psychiatric clinic between April 2014 and May 2015. The ASD group comprised 16 children; the attention deficit hyperactivity disorder (ADHD) group consisted of 16 children. An additional 10 normal control children who had not been diagnosed with either disorder participated in this study. Idiom comprehension ability was assessed in these three groups using the KASLAT. RESULTS: Both ASD and ADHD groups had significantly lower scores on the matched and mismatched tasks, compared to the normal control children (matched tasks mean score: ASD 11.56, ADHD 11.56, normal control 14.30; mismatched tasks mean score: ASD 6.50, ADHD 4.31, normal control 11.30). However, no significant differences were found in scores of KASLAT between the ADHD and ASD groups. CONCLUSION: These findings suggest that children with ASD exhibit greater impairment in idiom comprehension, compared to normal control children. The KASLAT may be useful in evaluating idiom comprehension ability.
Autism Spectrum Disorder/*diagnosis/psychology ; Child ; *Comprehension ; Female ; Humans ; Language ; Language Development Disorders/*diagnosis/psychology ; Language Disorders/*psychology ; Language Tests/*standards ; Male ; Reproducibility of Results

PURPOSE: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication impairments and repetitive behaviors or restricted interests. Impaired pragmatic language comprehension is a universal feature in individuals with ASD. However, the underlying neural basis of pragmatic language is poorly understood. In the present study, we examined neural activation patterns associated with impaired pragmatic language comprehension in ASD, compared to typically developing children (TDC). MATERIALS AND METHODS: Functional magnetic resonance imaging (fMRI) was applied to 15 children with ASD and 18 TDC using the Korean pragmatic language task. RESULTS: Children with ASD were less accurate than TDC at comprehending idioms, particularly when they were required to interpret idioms with mismatched images (mismatched condition). Children with ASD also showed different patterns of neural activity than TDC in all three conditions (neutral, matched, and mismatched). Specifically, children with ASD showed decreased activation in the right inferior frontal gyrus (IFG) (Brodmann area 47) in the mismatched condition, compared with TDC (IFG; t(31)=3.17, p < 0.001). CONCLUSION: These results suggest that children with ASD face difficulties in comprehending pragmatic expressions and apply different pragmatic language processes at the neural level.
Autism Spectrum Disorder* ; Autistic Disorder* ; Child* ; Comprehension* ; Humans ; Magnetic Resonance Imaging ; Neurodevelopmental Disorders ; Prefrontal Cortex

OBJECTIVE: It was proposed that the ability to recognize facial emotions is closely related to complex neurocognitive processes and/or skills related to theory of mind (ToM). This study examines whether ToM skills mediate the relationship between higher neurocognitive functions, such as reasoning ability, and facial emotion recognition. METHODS: A total of 200 healthy subjects (101 males, 99 females) were recruited. Facial emotion recognition was measured through the use of 64 facial emotional stimuli that were selected from photographs from the Korean Facial Expressions of Emotion (KOFEE). Participants were requested to complete the Theory of Mind Picture Stories task and Standard Progressive Matrices (SPM). RESULTS: Multiple regression analysis showed that the SPM score (t=3.19, p=0.002, beta=0.22) and the overall ToM score (t=2.56, p=0.011, beta=0.18) were primarily associated with a total hit rate (%) of the emotion recognition task. Hierarchical regression analysis through a three-step mediation model showed that ToM may partially mediate the relationship between SPM and performance on facial emotion recognition. CONCLUSION: These findings imply that higher neurocognitive functioning, inclusive of reasoning, may not only directly contribute towards facial emotion recognition but also influence ToM, which in turn, influences facial emotion recognition. These findings are particularly true for healthy young people.
Facial Expression ; Humans ; Male ; Negotiating ; Theory of Mind*