• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.701-704
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• 2009

SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome.

• Clinical and Experimental Pediatrics
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• v.57 no.7
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• pp.310-316
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• 2014

Purpose: Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment. Methods: The clinical characteristics and the results of the GH treatment were reviewed retrospectively for 30 PWS patients diagnosed by molecular genetic testing and clinical manifestations. Results: The mean age at diagnosis with PWS was 13.7 months (2-47 months of age). All patients showed the characteristics of facial dysmorphism, including brown hair and almond-shaped eyes. Most patients showed developmental delays/mental retardation (93.3%), cryptorchidism (75%), feeding problems in infancy (73.3%), and neonatal or infantile hypotonia (66.7%). Among 30 patients, 14 PWS infants and toddlers had been treated with GH for more than two years. Two years of GH treatment resulted in an improvement in head circumference-standard deviation score (HC-SDS), body weight-SDS, insulin-like growth factor-1 (IGF-1) SDS, IGF binding protein-3 (IGFBP-3) SDS, lean body mass, and bone mineral content, especially in IGFBP-3 SDS and motor development in PWS patients younger than two years of age. There was significant increase in IGF-1 SDS and IGFBP-3 SDS among male PWS patients after GH treatment. Conclusion: Our study showed increases in IGFBP-3 SDS and an improvement in motor development among individuals under two years of age after GH treatment, and significant difference in IGF-1 SDS and IGFBP-3 SDS by gender.

• Development and Reproduction
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• v.13 no.2
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• pp.63-77
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• 2009

The neuronal ceroid-lipofuscinoses (NCLs) are a kind of neurodegenerative storage disorders. The NCLs are charecterizated by accumulation of autofluorescent lipofuscin or lipopigment in the brain. All NCL group belongs to in lysosomal storage disorders (LSDs), except Northern epilepsy. NCLs are the most common group of progressive neurodegenerative disorders in childhood, with an incidence as high as I in 12,500 live births. Four main clinical types have been described based on the onset age : infantile, late infantile, juvenile and adult types. Clinical symptoms of NCLs include loss of vision, seizures, epilepsy, progressive mental retardation and a premature death. Although mutation causes neurodegeneration in NCLs, the molecular mechanism by which mutation leads to neurodegeneration remains unclear. In this paper, we review the characteristics of these NCLs.

• Clinical and Experimental Pediatrics
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• v.45 no.4
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• pp.540-544
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• 2002

Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by gradual loss of speech and purposeful hand use, and development of microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After regression between infancy and the fifth year of life, the clinical course stabilizes and patients usually survive into adulthood. It was recently discovered that Rett syndrome is caused by mutations in the methyl-CpG binding protein 2(MECP2) gene. Diagnosis of Rett syndrome is clinically difficult before three years of age, especially in atypical cases, but molecular analysis of the MECP2 gene could assist correct diagnosis in some patients. Recently, we diagnosed a case of Rett syndrome in a two year-old girl by mutational analysis of the MECP2 gene and want to report this case with brief review of literature.

• Journal of Korean Dental Science
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• v.13 no.1
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• pp.21-27
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• 2020

Purpose: The aim of this study was to investigate the types and frequency of the various incidental findings (IFs) on magnetic resonance images (MRI) taken from the patients with temporomandibular disorder (TMD) symptoms. Materials and Methods: Temporomandibular joint (TMJ) MRI taken from 1,013 patients with TMD symptoms were evaluated retrospectively. IF was defined as imaging features that were accidentally or unexpectedly found, rather than degenerative bony changes of TMJ complex or disc derangement. They were classified into two groups as TMJ site-specific findings and unexpected findings at other regions. The frequency of the sub groups was analyzed. Result: A total of 26 (2.57%) cases with IFs were classified into 13 cases with TMJ site-specific findings and 13 cases with unexpected findings at other region. TMJ site-specific findings included synovial chondromatosis in 6 cases, synovial cyst in 6 cases and osteochondroma in one case. Unexpected findings included salivary gland tumor in 3 cases, developmental cyst in 3 cases, vascular malformation in 2 cases, mastoiditis in 4 cases and sialadenitis on parotid gland in one case. Conclusion: When diagnosing TMD through TMJ MRI, clinicians should carefully read the image, considering the possibility of IFs because TMJ MRI can provide pathologic information in TMJ region and other oral and maxillofacial region.

• Child Health Nursing Research
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• v.12 no.1
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• pp.44-56
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• 2006

Purpose: The purpose of this study was to investigate the health education needs of mothers who are nurturing children with disabilities. Method: A descriptive study was done and the participants were 108 mothers of children with disabilities such being mentally challenged, developmentally delayed or having a disability involving brain damage. The questionnaire was a health education need assessment with 11 categories(58 items) developed by Han et al. The data were analyzed using SPSS program. Results: The mean score for health education needs of the mothers of children with disabilities was 3.83 (SD=0.58) out of a maximum 5. The health education need for acquisition of knowledge and information had the highest score (4.40±0.54) followed by health education needs for cognitive development and learning (4.31±0.64), interpersonal relationships (4.04±0.65) and behavior and emotion (4.04±0.79). There were significant differences between the children's sex (t=2.08, p=.04), birth order (t=2.17, p=.03), grade of disability (F=3.32, p=.02) and sex education suitable to the child's in age. Conclusion: The health education needs of mothers of children who are disabled were very high and varied. Therefore, it was important to develop comprehensive education programs which include this content and provide opportunities for mothers of children with disabilities to receive this education.

• Journal of Environmental Health Sciences
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• v.29 no.2
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• pp.7-15
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• 2003

Di-2-ethylhexyl phthalate (DEHP), is a widely used plasticizer known to be a suspected endocrine disrupter, but its exact effects on aquatic organisms are not yet known. When Japanese medaka (Oryzias latipes) were exposed from the time of hatching to 3 months of age to an aqueous DEHP solution at nominal concentrations of 1, 10, and 50 $\mu\textrm{g}$/l, DEHP treated female fish showed distinct reproductive effect. And the midge (Chironomus riparius.). an aquatic invertebrate, was exposed to DEHP to evaluate the effects on reproductive processes via sediment toxicity. The test endpoints included emergence, sex ratio, fecundity, and the viability of F1 offspring egg ropes. The result implied that the normal developmental and/or reproductive processes in C. riparius had been disrupted when exposed to DEHP, the effect also being displayed in the next generation. In summary, DEHP hinders the development of reproductive organs in the female Japanese medaka and C. riparius.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.93-97
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• Journal of Physiology & Pathology in Korean Medicine
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• v.20 no.2
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• pp.494-497
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• 2006

A child with five delay, five ankylosis, five weakening needs to take herbal medicine for a long term. So safety, efficacy inspection for the long term usage of herbal medicine and mixed dose is needed because other medication or functional health foods, etc could be taken during this process. Operated liver function test before and after dosing herbal medicine to one hundred and sixty children who aided private oriental medicine located in Seoul, and measured the efficacy by comparing sleeping hours, morbidity, stamina, sanguineness, personality, digestion with the state before taking herbal medicine based on questionnaire done by the parents. Every children were under the limits, and there were no differences between boys and girls, and no notable differences according to family histories. There were positive results in efficacy inspection ordered as improvement in personality, stamina, sanguineness, decrease in morbidity, increase in appetite, digestion. No signs of disorder in liver function has been found during the dose of herbal medicine or simultaneous medicine, and shown promotion of health.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.45-48
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• 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid ${\beta}$-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of $2.25{\mu}mol/L$ (normal, < $0.99{\mu}mol/L$). Urinary excretion of ethylmalonic acid was also elevated, as detected by urine organic acid analysis. To confirm the diagnosis of SCADD, direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Subsequent sequence analysis revealed compound heterozygous missense mutations c.164C>T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.