• Clinical and Experimental Pediatrics
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• v.53 no.2
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• pp.163-166
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• 2010

Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods : Funduscopy was conducted on 24 subjects, who were chosen among those diagnosed as having mitochondrial respiratory chain complex defect and who were clinically suitable for the criteria of Leigh syndrome. Their clinical features, ophthalmologic symptoms, and ophthalmologic examination results were retrospectively analyzed. Results : Of the 24 patients with Leigh syndrome, 11 developed ophthalmologic symptoms and no abnormal finding was observed in 13. The most frequent abnormal finding was visual disturbance in 5 patients. Funduscopy revealed abnormal findings in 17 patients; retinal pigmentation was the most frequent abnormality and was seen in 9 patients. Conclusion : Funduscopy can be an important screening test to find ophthalmologic abnormalities among patients with mitochondrial disease (MD), including those patients whose ophthalmologic symptoms are inconspicuous. It is predicted that an improved screening test can be made in the future that will identify risk factors related to ophthalmologic symptoms.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.155-160
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• 1997

Purpose : Tethered cord syndrome is characterized by progressive motor and sensory disturbances in lower extremities, foot deformities caused by a pathologic fixation of spinal cord resulting in excessive stretching of the spinal cord. It is also frequently associated with urological symptoms include urinary frequency, incontinence, enuresis, urgency and recurrent urinary tract infection. Because there is few report in the literature about urological manifestations of theterd cord syndrome, we conducted a retrospective study on the patients diagnosed as tethered cord syndrome to delineate the characteristics of urologic manifestations in tethered cord syndrome and to establish the policy to evaluate patients who is suspected of tethered cord syndrome. Method : A retrospective study was conducted by reviewing the medical records of nine patients who was diagnosed as tethered cord syndrome from November 1991 to July 1996 in Yeungnam University Hospital. Result : 1) The age distribution of nine patients was as follows; 5 patients were under 2 years, 1 case from 2 to 6 years and 3 cases from 6 to 10 years. 2) Of 9 patients 6 had voiding frequency, urinary incontinence, enuresis, urgency and loss of micturation sense. Radiologic urodynamic studies revealed neurogenic bladder in 5 patients, hydronephrosis and hydroureter in 3, vesicoureteral reflux in 3. 3) Of 6 patients with urological abnormal manifestations 4 underwent spinal cord surgery (detethering). In spite of surgical intervention, the urological manifestations improved in only one patient. Conclusion : Urological abnormalities were common in tethered cord syndrome. Abnormal laboratory findings including urodynamic study were found even before the onset of urological symptoms. We have to concern tethered cord syndrome as one of common causes of voiding frequency and enuresis and to evaluate urological abnormalities as thetered cord syndrome is diagnosed.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.197-204
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• 2018

Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (${\geq}6$ months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.

• Journal of the korean academy of Pediatric Dentistry
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• v.39 no.4
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• pp.412-417
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• 2012

Mucopolysaccharidosis (MPS) is a disorder which is caused by the defect of the lysosomal enzyme that is essentially needed for resolution of glycosaminoglycans (GAGs). Metabolite of GAGs will accumulate in the lysosome of cells and will result in the dysfunction of cells, tissues, and organs. Eventually, patients will manifest both mental retardation and physical disorders. In worst cases, mucopolysaccharidosis can cause premature death. The current clinical types have been classified as MPS from type I to type IX according to the defect of certain enzyme. The dental complications have been reported as delay of eruption, enamel hypoplasia, microdontia, malocclusion, condylar defects, gingival hyperplasia and dentigerous cystlike follicle. This clinical report presents the case of a boy with MPS type II, Hunter Syndrome which has various dental complications.

• Clinical and Experimental Pediatrics
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• v.50 no.6
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• pp.576-579
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• 2007

The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta ($TR{\beta}$) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features include elevated serum levels of thyroid hormone (TH), a normal or slightly increased thyrotropin (thyroid stimulating hormone, TSH) level that responds to thyrotropin releasing hormone (TRH), and goiter. We report a 4 year-old girl, who was clinically euthyroid in spite of high total and free $T_4$, and $T_3$ concentrations, while TSH was slightly increased. Sequence analysis of the thyroid hormone receptor beta gene (THRB) confirmed a heterozygous C to T change at nucleotide number 1303, resulting in a substitution of histidine by tyrosine at codon 435 (H435Y). Further analysis of her parents revealed that the H435Y variation was a de novo mutation since neither parents had the variation. Her parents' TH and TSH levels were within normal range.

• Korean Journal of Biological Psychiatry
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• v.2 no.1
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• pp.115-122
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• 1995

This study was performed to know the relationship between neurologic soft signs (NSS) and clinical variables such as psychopathology. history of illness, and premorbid social adjustment in patients with schizophrenia. The authors evaluated NSS in 31 patients with schizophrenia using the structured tool for measuring neurologic abnormalities, Neurological Evaluation Scale- Korean Version(NES-K). Relationships between NSS and clinical variables such as duration of illness, intensity of precipitating stressors, duration of outpatient treatment, schooling, peer relationship, total duration of unemployment, total days of psychiatric admission, age, total days of being medicated, age at the first psychiatric admission, frequency of admissions, content of treatment, social adjustment, and severity of symptoms were analyzed. Differences between paranoid and non-paranoid schizophrenics were examined. In addition, Differences between patients with schizophrenia who have predominant positive symptoms and who have predominant negative symptoms were examined too. Total scores of NES-K were correlated with lower schooling (${\gamma}$=0.44, p<0.01). Scores of motor coordination subcategory were correlated with poor peer relationship(${\gamma}$=0.67, p<0.001). Other clinical variables were not correlated with any scores of NES-K. Paranoid and non-paranoid schizophrenics were not different in scores of NES-K. Also positive and negative schizophrenics were not different in scores of NES-K. Most clinical variables except schooling and peer relationship were not related with NSS. This results indicated that the meaning of these signs was not fully be understood. Introduction of the new classification concepts such as deficit or non-deficit syndrome will be helpful to elucidate the meaning of NSS in patients with schizophrenia.

• Korean Journal of Air-Conditioning and Refrigeration Engineering
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• v.17 no.7
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• pp.688-693
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• 2005

Nowaday the natural ventilation rate decreases because the apartment housing is being air-tight. Therefore, Indoor Air Quality (IAQ) and indoor environment grow worse. Especially, Formaldehyde (HCHO), Volatile Organic Compounds (VOCs) which is emitted from the building materials and coating material etc. occur Sick House Syndrome that cause negative impact on resident's respiratory system and body. Therefore in construction field, it will be a important issues that development of a ventilation system with high effectiveness which can exhaust the contaminant out of the building quickly. In this research we evaluated 'wall attachable duct-less Heat Recovery Ventilation (HRV) system with air cleaning function'. We executed a synthetic evaluation about indoor air environment under various operating condition installing the system in real scale apartment house that is built in Anyang city. HRV system with air cleaning function showed good performance by removing HCHO, VOCs with less ventilation energy.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.3
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• pp.481-485
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• 2004

Rabson-Mendenhall syndrome(RMS) is first characterized in 1955 by Rabson and Mendenhall. RMS is a rare autosomal recessive variant with insulin resistance. This is due to insulin receptor mutations or other target-cell defects in insulin action. General findings include acanthosis nigricans, hypertrichosis, onychauxis, growth retardation, precocious puberty, genital enlargement, protuberant abdomen and xerotic skin. Characteristic oral and maxillofacial findings include dental dysplasia, coarse facial skin, prognathic jaw and fissured tongue. In this case report, dental characteristics of a 4-year old boy with Rabson-Mendenhall syndrome are described.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.87-92
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• 2015

Mucopolysaccharidosis (MPS) is an inherited disease entity associated with lysosomal enzyme deficiencies. MPS type 2, also known as Hunter syndrome, has a characteristic morphology primarily involving x-l inked recessive defects and iduronate-2-sulfatase gene mutation. The purpose of this case report is to provide important clues to help pediatricians identify Hunter syndrome patients earlier (i.e., before the disease progresses). A 30-month-old boy showed developmental delay and decreased speech ability. Physical examinations revealed a flat nose and extensive Mongolian spots. Brain magnetic resonance images (MRIs) showed bilateral multiple patchy T2 hyperintense lesions in the periventricular and deep white matter, several cyst-like lesions in the body of the corpus callosum, and diffuse brain atrophy, which were in keeping with the diagnosis. Based on these findings, the patient was suspected of having MPS. In the laboratory findings, although the genetic analysis of IDS (Iduronate-2-sulfatase) did not show any pathogenic variant, the enzymatic activity of IDS was not detected. We could confirm the diagnosis of MPS, because other sulfatases, such as ${\alpha}$-L-iduronidase, were detected in the normal range. Early enzymatic replacement therapy is essential and has a relatively good prognosis. Therefore, early diagnosis should be made before organ damage becomes irreversible, and brain MRIs can provide additional diagnostic clues to help distinguish the disorder.