Lee, Jae Rang;Kim, Seung;Lee, Young Mock;Lee, Joon Soo;Kim, Heung Dong
Clinical and Experimental Pediatrics
/
v.52
no.4
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pp.458-463
/
2009
Purpose : Schizencephaly is a uncommon congenital brain anomaly characterized by congenital clefts spanning the cerebral hemispheres from pial surface to lateral ventricles and lined by gray matter. In this study, we investigated the clinical manifestation and radiologic findings of pediatric schizencephaly. Methods : The data of 13 patients who were diagnosed with schizencephaly in Severance Childrens Hospital and Yongdong Severance Hospital from January 2005 to December 2007 were analyzed retrospectively. Results : The mean age at diagnosis was $9.08{\pm}2.67$ months old and ranged from 1 to 30 months. The ratio of male to female patients was 3.33:1. Five (38.5%) patients had bilateral clefts, while 8 (61.5%) had unilateral clefts. Five (38.5%) patients had closed lip clefts, and 4 (30.8%) had opened lip clefts. Four (30.8%) patients had multiple clefts. Associated anomalies showed in all cases. The clinical features consisted of mild unilateral weakness in 7 (53.8%) cases and a hemiparesis was present in 3 (23.1%) patients. A tetraparesis was in 3 (23.1%) patients. There was no difference in motor deficit between unilateral and bilateral clefts. Delayed development was observed in all cases. Epilepsy was present in 7 (53.8%) patients, 5 patients with unilateral clefts and 2 patients with bilateral clefts. Three (42.8%) patients showed intractable seizures. Conclusion : Schizencephaly showed variable clinical manifestations and radiologic findings in association with the types and locations of the clefts. It is necessary to diagnose schizencephaly early and to detect the development of epilepsy. Intensive and large studies of the correlation of clinical outcomes and radiologic findings should be continued for more effective treatment.
Purpose : Radiotherapy is effective in local treatment for retinoblastoma. However, asymmetric facial hypoplasia after radiation is a serious late effect. This study was performed to investigate the effects of enucleation and chemotherapy with or without radiotherapy in advanced intraocular and intraorbital retinoblastoma. Methods : Between 1985 October and 2006 December, the records of thirty five patients who were diagnosed as retinoblastoma at Yeungnam University Hospital were reviewed. Advanced intraocular and intraorbital retinoblastoma patients classified as Reese-Ellsworth group III, IV, and V and Grabowski- Abramson class II were selected for the study. Results : Eighteen patients were enrolled in this study. All patients were enucleated and had received chemotherapy. Nine patients received radiotherapy and nine patients didn't receive radiotherapy. Tumor cells were found on resection margin of optic nerve in five of nine patients who received radiotherapy, but none of nine who didn't receive radiotherapy. Chemotherapy included vincristine, adriamycin, cyclophosphamide, VM-26, cisplatin before 2001, and vincristine, etoposide, and carboplatin after 2001. There were no recurrences or metastases in nine patients who didn't receive radiotherapy. But two of nine patients who received radiotherapy had metastases to brain. However, all survivors who received radiotherapy had significant facial asymmetry. Conclusion : In advanced intraocular and intraorbital retinoblastoma without tumor cell on resection margin of optic nerve, enucleation and chemotherapy without local radiotherapy appears to be safe for long-term survival. However, in those with tumor cells on resection margin of optic nerve, enucleation and chemotherapy with local radiotherapy seems to be necessary to improve survival.
Purpose : Craniopharyngiomas are often accompanied by severe endocrine disorders. Although there is universal growth hormone deficiency(GHD), the resulting growth pattern is very heterogeneous. We report the growth and endocrine outcome of 44 children with craniopharyngioma, with emphasis on initial symptoms, growth before and during growth hormone(GH) treatment and spontaneous growth in spite of GHD. Methods : We performed a retrospective study of 44 children treated at our centre between 1984 and 2002. Results : About 30% of patients had symptoms suggesting endocrine disorder at diagnosis. After surgery, multiple endocrinopathies were almost universal. Before GH therapy, height velocity was $8.00{\pm}2.71cm/yr$ in the normal growth group(n=11) and $1.79{\pm}1.10cm/yr$ in the subnormal growth group(n=7) during the first year and during the second year, $6.76{\pm}2.49cm/yr$ and $2.29{\pm}1.33cm/yr$, respectively. There was no difference of body mass index(BMI) change between before and after surgery in the two groups. Height standard deviation score(SDS) was $-1.46{\pm}0.74$ in the normal growth group and $-0.43{\pm}0.97$ in the subnormal growth group. Before GH treatment height SDS was $-1.31{\pm}1.25$ and BMI was $20.46{\pm}3.60$. During GH treatment, height SDS increased to $-0.60{\pm}1.37$ in the first, and to $-0.41{\pm}1.54$ in the second year(P<0.05), but BMI did not change significantly. Conclusion : The endocrine morbidity could develop in most children with craniopharyngioma before and after the operation and should be managed properly. Although all treated patients benefit from GH therapy, further studies are necessary to find out the possible mechanism of growth regulation in normally growing children, despite GH deficient.
Song, Bong Kyu;Kim, Do Kyun;Park, Hye Young;Hwang, Jun Won;Kwak, Young Ho
Clinical and Experimental Pediatrics
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v.52
no.11
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pp.1207-1215
/
2009
Purpose:To review and determine the complications in 76 child abuse cases recorded by a multidisciplinary hospital-based child protection team between 1987 and 2007. Methods:We retrospectively reviewed the reports and medical records of child abuse cases maintained by a university hospital-based child protection team. We devised a questionnaire for standardized interviews with the victims' guardians to determine the current physical and mental status of the children; questionnaires were answered by social workers of the child protection team who interviewed the present fosterers of 24 (35.8%) children. Results:Of the 76 children, 6 were infants, 10 were 1-3 years old, were 3-10 years old, and 19 were over 10 years old. Seven children (9.2%) were neglected and 27 (35.5%) and 44 (57.9%) were sexually and physically abused, respectively. In more than half of the cases, the perpetrators were the father or mother of the children. Most children (41 cases, 53.9%) were abused at their homes. The mean follow-up duration from the time of abuse infliction was $54.3{\pm}49.2$ months, and the current mean age of the children was $8.3{\pm}6.4$ years. Moderate and severe developmental delay and physical disability were observed in 6 (25.0%) and 3 (12.5%) cases, respectively. In 13 children (54.2%), the Global Assessment of Functioning Scale (GAF) score was less than 60, which indicates mild mental disability. Conclusion:A hospital-based child protection team may witness the different proportion of abuse types and patterns by conducting a nation-wide survey of child abuse cases.
Lee, Ji Eun;Moon, Kwang Bin;Hwang, Jong Hee;Kwon, Eun Kyung;Kim, Sun Hee;Kim, Jong Won;Jin, Dong Kyu
Clinical and Experimental Pediatrics
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v.45
no.9
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pp.1126-1133
/
2002
Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.
Min, Sae Ah;Jeon, Myung Won;Yu, Sun Hee;Lee, Oh Kyung
Clinical and Experimental Pediatrics
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v.45
no.12
/
pp.1503-1511
/
2002
Purpose : Although the short- and long-term outcomes of low birth weight(LBW) neonatal intensive care unit(NICU) survivors have been extensively studied, much less information is available for normal birth weight(NBW) infants(greater than 2,500 gm) who require NICU care. Methods : We retrospectively examined the neonatal hospitalizations and one year health status of 302 NBW and 131 LBW admissions to our NICU. Information on the neonatal hospitalization was obtained from a review of medical records. Postdischarge health status was collected by using telephone surveys and medical records. Results : After initial discharge, 21.2% of the NBW infants and 23% of the LBW infants required rehospitalization during the first year of life and there was no significant difference between the two groups. The reasons for rehospitalization of the NBW infants included respiratory disorders (32.1%), G-I problems(26.2%), genitourinary problems(11.9%), surgery(10.7%), cardiac problems(7.1%), and congenital/developmental problems(1.2%). For the LBW infants, the order of frequency was the same, with the percentages slightly different. Neonatal risk factors related to the rehospitalization of the NBW infants included mechanical ventilation, duration of mechanical ventilation, and congenital anomaly. But no positive significant correlation of neonatal risk factors with rehospitalization of LBW infants was found. Conclusion : Low and normal birthweight NICU survivors were rehospitalized at similar rates. The most common cause of rehospitalization was respiratory problems. Neonatal risk factors related to rehospitalization of NBW infants were mechanical ventilation, duration of mechanical ventilation, and congenital anomaly. However, no positive significant correlation of neonatal risk factors with rehospitalization of LBW infants was found. The data suggests that NBW infant survivors, as well as LBW infant NICU survivors, require close follow up.
Moon, Il Hong;Ha, Kee Soo;Kim, Gui Sang;Choi, Byung Min;Eun, Baik-Lin;Yoo, Kee Hwan;Hong, Young Sook;Lee, Joo Won
Clinical and Experimental Pediatrics
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v.49
no.12
/
pp.1308-1314
/
2006
Purpose : This study aimed to evaluate the usefulness of auditory evoked potential (AEP) in clarifying neuronal development in premature small for gestational age (SGA), and appropriate for gestational age (AGA) infants. Methods : A total of 183 premature infants who were born from August 2002 to July 2005, were examined with AEP. They were divided into three groups; AGA, symmetric-SGA and asymmetric-SGA group. Results : Statistically significant differences in the head circumference were observed in three groups. Among the risk factors, prevalence of hypoglycemia and hypoalbuminemia between AGA and asymmetric SGA infants were significantly different. V absolute peak latency (APL) in the right side of AGA infants was delayed were than that of asymmetric SGA infants. III-V interpeak latency (IPL) of asymmetric SGA infants was delayed more than that of symmetric SGA infants. Moreover, I-V IPL on both sides of symmetric SGA infants was shortened more than that of AGA infants. However, all the results of AEP were within the reference range, according to gestational age. Birth weight of, only asymmetric SGA, was related to the III APL on both sides and the III-V IPL on right side. Conclusion : This study shows that the values of APL and IPL of premature SGA infants are different than that of premature AGA infants. These data could be an indicator in evaluating the neurologic functions of small for gestational age infants.
Kim, Do Young;Kim, Sung Shin;Kim, Chang Hwi;Kim, Shi Chan
Clinical and Experimental Pediatrics
/
v.49
no.5
/
pp.507-512
/
2006
Purpose : Early detection and intervention of hearing impairment is believed to improve speech and language development and behavior of children. The aim of this preliminary study was to determine the prevalence of hearing impairments, and to identify the association of risk factors relating to refer response in high risk neonates who were screened using distortion product otoacoustic emissions (DPOAE). Methods : The subjects included 871 neonates who were admitted to the neonatal intensive care unit of the Pediatric Department in Soonchunhyang University Bucheon Hospital from May, 2001 to December, 2004. They were screened using DPOAE. Based on DPOAE, we divided the neonates in two groups : 'Pass' and 'Refer'. The differences in risk factors between the pass group and the refer group were analyzed. Results : The incidence of the refer group was 12.1 percent(106 out of 871). The bilateral refer rate was 5.4 percent(47 out of 871). And the unilateral refer rate was 6.7 percent(59 out of 871). Gender, birth place, family history of hearing loss, small/large for gestational age, obstetrical factor, hyperbilirubinemia and use of gentamicin were not statistically related to the refer rate. Statistically related to refer rate were birth weight, resuscitated neonates, Apgar score, craniofacial anomaly, mechanical ventilator application, sepsis, using of vancomycin(P<0.05). The prevalence of hearing impairment (${\geq}60dB$) in this study was 2 percent(18 out of 871). Conclusion : This study showed a higher prevalence of hearing impairment in high-risk neonates. Thus neonatal hearing screening should be carried out in high-risk neonates.
Seo, Hye-Eun;Lee, Ji Hye;Kim, Ji Yoon;Lee, Dong Ha;Lee, Heung Kyo;Lee, Kun Soo
Clinical and Experimental Pediatrics
/
v.50
no.9
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pp.875-881
/
2007
Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.
Kim, Gi Hwan;Kook, Hoon;Baek, Hee Jo;Han, Dong Kyun;Song, Eun Song;Jo, Young Kook;Choi, Ic Sun;Kim, Young Ok;Kim, Chan Jong;Woo, Young Jong;Yang, Soo Jin;Hwang, Tai Ju
Clinical and Experimental Pediatrics
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v.50
no.2
/
pp.182-189
/
2007
Purpose : The primary purpose of this study was to evaluate the growth and neuropsychologic function following treatments for pediatric hematologic and oncologic diseases. Healthy monozygotic twins served as ideal controls for comparison to exclude possible confounding factors. Methods : Seven children treated with various hematologic and oncologic diseases were included in the study: acute lymphoblastic leukemia (ALL; n=2), Diamond-Blackfan anemia twins (n=2), and aplastic anemia (n=3). The median age at the diagnosis was 5.2 (0.3-15) years. The median duration of follow-up was 7.2 (4.9-10) years. Controls were healthy monozygotic twins. Growth was measured and the percentile channels were evaluated sequentially for patients. The K-WISC III was applied and compared in 5 pairs of patients and controls. Results : Similar growth profiles were noted for the twins. The percentiles at diagnosis was 3-10 in 3, 25-50 in 2, and 50-75 in 2 cases. All patients stayed in their growth percentiles through follow-up, except for 1 patient who became obese. For IQ tests, the mean behavioral, verbal and full scale IQ scores of patients were 88.0, 93.8, and 89.8, respectively, and those from their corresponding controls were 92.2, 97.0, and 91.7 (P>0.05). However, 2 children who were treated for ALL had lower IQ scores. Conclusion : Similar growth profiles were observed in the monozygotic twins in terms of height and weight. The IQ scores of patients were similar to those of monozygotic twins. However, prophylactic CNS-directed therapy for leukemia might adversely affect the IQ scores. A further prospective study on larger number of twins is warranted.
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