• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1231-1240
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• 2007

Purpose : Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis and other clinical signs and symptoms. The aims of this study were to analyze the clinical manifestations and the short- and long-term outcomes of Bartter syndrome. Methods : We retrospectively reviewed clinical history, laboratory finding of blood and urine, renal ultrasonography, and hearing tests of five patients who were diagnosed and managed with Bartter syndrome at Asan Medical Center from April 1992 to May 2007. We also evaluated height and body weight periodically after institution of therapy. Results : All patients had poor oral intake, failure to thrive and polyuria. Three of them had maternal history of polyhydramnios and premature delivery. The mean age at diagnosis was 11.8 months. All children presented with hypokalemia, metabolic alkalosis, hyperreninemia. Their blood pressures were normal. One patient had nephrocalcinosis on renal ultrasonography and all of them had normal result in hearing tests. After treatment with indomethacin or other prostaglandin inhibitors and potassium supplementation,their clinical features improved with catch-up growth and improvement in the development during long-term follow-up. Conclusion : We emphasize that early diagnosis and proper treatment in patient with Bartter syndrome are related to better prognosis.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1067-1072
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• 2003

Purpose : Non-accidental intracranial hemorrhage in children is not low in incidence and results in high mortality and serious sequelae. So, the authors have researched the distribution of sex and age, causes, symptoms and signs, hemorrhagic types, mortality rate and sequelae of the patients hospitalized with non-accidental intracranial hemorrhage at Hallym University Sacred Heart Hospital. Methods : The medical records of twenty patients, aged 15 or younger, and excluding neonatal patients, were analyzed retrospectively. The patients in this study were admitted with non-accidental intracranial hemorrhage from January 1999 to June 2002. Results : Of the twenty cases, the ratio of male to female was 1 : 0.8. The patients aged one or less and between 11 and 15 were discovered to be the most frequent cases. Shaken baby syndrome and arteriovenous malformation were found to be the most frequent causes. Seizure was most frequently found to be a symptom and a sign. Hemorrhagic type was classified into subdural hemorrhage eight, intracerebral hemorrhage five. There were three mortal cases. Twelve surviving patients, excluding five not-followed ones, were reclassified into six cases of complete recovery and six of sequalae. Conclusion : Non-accidental intracranial hemorrhage in children is not low in incidence, with a high mortality rate and a high incidence of serious sequelae after survival. Consequently, early diagnosis and appropriate treatment are required. In addition, appropriate rehabilitation after treatment is needed because the high survival rate due to advanced medical treatment results in an increasing number of neurologic sequelae.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.1
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• pp.54-66
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• 1998

Objectives：This study was to investigate the impact of parental psychiatric disorder on offspring's depression, anxiety, self concept, perception of familial relationship compared with offspring of normal control. In offsprings of parents with psychiatric disorder, this study explored whether their psychopathology, self concept, and perception of familial relationship were influenced by parent’s sex, onset time of parent’s psychiatric disorder and parent’s psychiatric diagnosis. Methods：52 offsprings aged 10-18 years of 39 psychiatric outpatient were surveyed from June, 1997 to April, 1998 and completed several questionnaaire, including Korean from of the Family Environment Scale, Korean form of the State-Trait Anxiety Inventory for Children, Korean form of Kovac’s Children’s Depression Inventory, and Korean form of Piers-Harris Children’s Self-Concept Scale. Their score was compared with offsprings’ of normals. In offsprings of parents with psychiatric disorder, they were compared according to parent’s sex, onset time of parent's psychiatric disorder and parent’s psychiatric diagnosis. Results：The results were as follows：1) Offsprings of parents with psychiatric disorder reported higher level of state anxiety and lower level of the FES expressive subscale than offsprings of normals(p<0.05). But they reported higher level of PHCSCS intellectual & school status subscale and popularity subscale than normals(p<0.05). 2) There were no differences in anxiety, depression, self concept, and perception of familial relationship between patient’s sex. 3) Offsprings less than 3 years old when parent’s psychiatric disorder had developed showed higher level of trait anxiety and lower level of FES control subscale than offsprings more than 3 years old (p<0.05). 4) There were no diferences in anxiety, depression, self concept, and perception of familial relationship between patient’ diagnostic groups(schizophrenia spectrum disorder-mood disoderneurosis). Conclusion：The finding indicated that self reported scale of anxiety and depression showed no significant difference between offsprings of psychiatric patients and offsprings of normals. In offsprings of parents with psychiatric disorder, parent’s sex and psychiatiric diagnosis had no influence on offspring’s psychopathology. But the offspring’s age(before 3 years old) when the parent’s psychiatriric disorder developed had influence on higher level of offspring’s trait anxiety. For further high risk group study, direct interview and evaluation of parent-child agreement or teacher-child agreement will be needed in longitudinal study.

• Clinical and Experimental Pediatrics
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• v.51 no.8
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• pp.812-819
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• 2008

Purpose : Vitamin D plays a key role in bone mineralization of the skeleton and vitamin D deficiency can lead to rickets. It is well known that vitamin D deficiency is common in breast fed infants. Of these patients, clinically, some have no signs of rickets, but laboratory and radiographic findings are diagnostic for vitamin D deficiency rickets (subclinical vitamin D deficiency rickets). The purpose of this study is to clarify current causes and ways to prevent this disease. Methods : We reviewed the clinical and laboratory characteristics of children who were incidentally diagnosed as subclinical rickets during treatment of other disease such as pneumonia, gastroenteritis, urinary tract infection at Eulji Hospital, Seoul, Korea from March, 2003 to July 2007. Results : Eight patients (six boys and two girls) were diagnosed with subclinical vitamin D deficiency rickets. The mean age of the patients was $12.6{\pm}5.8months$, and they were diagnosed from January to July. The associated diseases were pneumonia, urinary tract infection, acute gastroenteritis, and iron deficiency anemia. All patients were breast-fed. Two showed growth failure. The mean serum alkaline phosphatase was $1995.8{\pm}739.5IU/L$, the mean calcium count was $9.5{\pm}0.6mg/dL$, and the mean phosphorus content was $3.6{\pm}1.5mg/dL$. The mean intact parathyroid hormone was $214.8{\pm}155.9pg/mL$ (reference range, 9-65), the mean 1,25-dihydroxyvitamin D was $82.4{\pm}49.3pg/mL$ (reference range, 2070), and the mean 25-hydroxyvitamin D was $29.6{\pm}10.6ng/mL$ (reference range, 1030). A radiographic examination showed cupping, fraying, and flaring of metaphyses in all patients. Six patients were administered calcitriol (400 IU/day) for three months. A consequent radiographic and laboratory examination showed improvement. The first two patients were initially diagnosed with metaphyseal dysplasia, without the detection of vitamin D deficiency and they spontaneously improved without vitamin D supplements. However, two years later, they showed mild scoliosis and metaphyseal dysplasia, respectively. Conclusion : Breast-feeding without supplementation involves high risk of vitamin D deficiency. Some infants may also develop rickets; therefore, such groups should be considered for vitamin D supplementation.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.13 no.1
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• pp.139-152
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• 2002

Objectives：This study was conducted to compare the clinical and neuropsychological characteristics by DSM-IV subtypes of attention deficit hyperactivity disorder(ADHD) patients who did not have comorbid psychiatric disorders. Methods：5-15 year old children with ADHD were recruited at psychiatric outpatient clinic of Yeungnam University hospital and the patients with comorbidity or neurological abnormalities were excluded. Finally, total 404 children with ADHD were selected for this study. There were 234 subjects of ADHD-C(57.9%), 156 subjects of ADHD-I(38.6%) and 14 subjects of ADHD-HI(3.5%), who fulfilled the DSM-IV diagnostic criteria. The mean age of the total subjects was 9.63±2.49 years old. The psychopathology, IQ, behavioral problems, neuropsychological executive function were evaluated before pharmacological treatment. The measures were Korean Personality Inventory of Child(K-PIC) for psychopathology, 4 behavioral check lists(ADDES-HV, ACTeRS, CAP, SNAP) for behavioral symptoms of ADHD, K-ABC and KEDI-WISC for IQ and Conner's CPT, WCST, SST for neuropsychological executive functions. Results：1) The prevalence of subtypes was ADHD-C, ADHD-I, ADHD-HI in decreasing order. There was no sex difference of prevalence among three subtypes. The mean age of ADHD-I was older than other subtypes. 2) There was significant differences of psychopathology among subtypes, the ADHD-C and ADHD-HI had higher than the ADHD-I in the scores of delinquent, hyperactivity and psychosis；the ADHD-C had higher than the ADHD-I in the scores of family relation and autism, the scores of ego resilience were lower than the ADHD-I. However, there was no difference in anxiety, depression and somatization scores among them. 3) The results of behavioral symptom check lists, the ADHD-C had higher the score of inattention, hyperactivity and impulsivity than the ADHD-I. Meanwhile the results of ACTeRs, which rated by the teachers, were different. 4) There were significant differences of sequential processing scale and arithmetics among subtypes in IQ using K-ABC, but there was no significant difference between the ADHD-C and the ADHD-I after excluding the ADHD-HI due to small numbers. 5) There was numerical difference among subtypes but did not reach statistical significance in three neuropsychological executive function tests. Conclusion：In conclusion, our results revealed that there was significant difference in clinical features among three subtypes but, no significant difference in executive functions.

• Clinical and Experimental Pediatrics
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• v.52 no.9
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• pp.991-998
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• 2009

Purpose : Thyroid hormone is essential for development of the brain in early life. Thyroid dysfunction is more common in the first 2-4 postnatal weeks of life in premature infants than in term infants. This study aimed to identify the prevalence and clinical course of thyroid dysfunction in prematurity. Methods : Premature infants admitted to and given neonatal screenings at Dankook University Hospital between April 1999 and March 2008 were included in this study. We retrospectively reviewed medical records and categorized subjects into six groups: normal, hypothyroidism, hyperthyrotropinemia, hypothyroxinemia, delayed onset of hypothyroidism, and delayed onset of hyperthyrotropinemia. Results : Among 599 subjects, 136 (23%) had initially abnormal thyroid function test (TFT); transient hypothyroxinemia was the most frequent condition (118, 20%). In addition, 8 (17%) of 46 subjects with initially normal TFT levels showed delayed onset of hyperthyrotropinemia with or without low free thyroxine ($fT_4$). Thyroxine was prescribed for 10 patients (1.7%) due to low $fT_4$ levels but was discontinued in 9 patients during follow-up. Thyroid scan confirmed ectopic thyroid in one patient. Conclusion : Thyroid dysfunction was frequently seen in premature infants, but most of the conditions were transient. In addition, some infants showed delayed TSH elevation on routine follow-up. Therefore, a recheck of the thyroid function of premature infants at 3-4 weeks is recommended, even if normal thyroid function is initially seen, especially in prematurity of less than 33 weeks of gestational age or birth weight of less than 2,500 grams.

• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1112-1117
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• 2003

Purpose : Recent advances in the methods of treating cancer in young patients have led to both an increased frequency of CNS complications as well as prolonged life expectancy. We intend to analyze the clinical aspects and laboratory findings of patients with CNS complications during and after treatment. Methods : We reviewed the medical records of 174 childhood cancer patients treated with chemotherapy admitted to the Dept. of Pediatrics, Keimyung University Dongsan Hospital, from January 1995 to November 2002. Among them, 15 cases with CNS complications were investigated in this study. Results : CNS abnormalities were found in 13 patients by CT or MRI during treatment such as leukoencephalopathy(n=7), mineralizing microangiopathy(n=4), brain infarction(n=3), intracranial hemorrhage(n=1), and hypoxic ischemic encephalopathy(n=1). It was found that two patients had two or more CNS abnormalities. Two patients who had no imaging abnormalities had convulsions, possibly after the addition of intrathecal methotrexate. The patients with intracranial hemorrhage and brain infarction had rapid and fatal clinical courses. The hypoxic ischemic encephalopathy following electrolyte imbalance completely recovered after correction of electrolyte. Conclusion : The CNS complications that occur during and after chemotherapy influence prognoses significantly, and remain neurologic sequelae. Therefore early diagnosis and prophylaxis for CNS complications and regular physical examination of patients who have recieved cancer therapy are strongly recommended.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.15 no.1
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• pp.61-74
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• 2004

Objectives：This study was performed to introduce a psychoeducational family therapy model for the families of schizophrenic patient and to investigate the effect of this model on the changes in coping style and depressive symptoms of the family members, and in perception of emotional support by families and depressive symptoms of patients. Methods：Nine preschool children, 3-5 years old, experiencing physical injuries caused by attack from a psychotic patient at kindergarten, were evaluated for psychological assessments；Intelligence test, MSSB(MacArthur Story-Stem Battery), H-T-P test(House-Tree-Person test). And their parents completed rating scale, KPI-C(Korean Personality Inventory for Children about children’s psychological conditions). Results：With respects to the contents and emotional reactions of MSSB, 9 preschool children showed generally high levels of anxiety, depression, avoidance, aggression, probably related to the traumatic experiences. Even though children couldn't verbally report directly about their traumatic experiences, in both MSSB, structured play narrative assessment tool, and HPT, free drawing and association test, they demonstrated psychiatric problems through reenactment plays, regardless of clinical diagnoses. Conclusion：Present study allowed us the chance to see beyond the outer pathological behaviors of PTSD in preschool children, through deeper evaluations of their mental representation. These preliminary data suggest deep understanding of internal representation would be of help for thorough evaluations and treatment plan for preschool children, experiencing severe trauma.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.23-34
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• 2012

Purpose: Acute symptomatic seizures are caused by structural changes, inflammation or metabolic changes of brain, such as tumor, stroke, meningitis, encephalitis and metabolic disorders. Inherited metabolic disorders that can cause seizures are organic acidopathies, lysosomal storage disorders, peroxisomal disorders and mineral disorders. We have done this study to find out the importance of organic acidopathies causing seizure disorders in Korean childhood and adolescent patients. Method: Retrograde analysis for 1,306 patients with seizure disorders whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 1,306 patients, 665 patients (51%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (394, 30.1%), followed by mandelic aciduria (127, 9.7%), ketolytic defects (81, 6.2%), 3-hydroxyisobutyric aciduria (19, 1.4%), glutaric aciduria type II (10, 0.8%), ethylmalonic aciduria (4), propionic aciduria (4), methylmalonic aciduria (3), glutaric aciduria type I (3), pyruvate dehydrogenase deficiency (3), pyruvate carboxylase deficiency (3), isovaleric aciduria (2), HMG-CoA lyase deficiency (2), 3-methylcrotonylglycinuria (2), fatty acid oxidation disorders (2), fumaric aciduria (1), citrullinemia (1), CPS deficiency (1), MCAD deficiency (1). Conclusion: On neonatal period, mandelic aciduria due to infection was found relatively frequently. Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every seizure patient.