• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.2
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• pp.262-266
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• 2004

The parathyroid hormone plays a major role in the metabolism of calcium and phosphorus. In hypoparathyroidism the parathyroid glands are atrophied or absent associated with autoantibodies against parathyroid tissue. Pseudohypoparathyroidism is a metabolic disease caused by the disturbance in peripheral action of parathormone, but parathormone level is normal. In general, patients with pseudohypoparathyroidism have short stature, round face, brachydactylia, obesity, mental retardation, cataracts & ectopic calcifications on soft tissues. Dental manifestations are enamel hypoplasia, delayed eruption, blunting of root apex, hypodontia, pulp calcification, thickened lamina dura, excessive caries & malocclusion. In this case, intraoral examination showed enamel hypoplasia on the erupted permanent teeth & hypermobility on the remaining deciduous teeth. From the radiographic view severe dental anomalies were observed on canines and shortening and blunting of root apex was observed on mandibular incisors. Pathologic root resorption was also observed on deciduous teeth.

• Tuberculosis and Respiratory Diseases
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• v.49 no.2
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• pp.246-252
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• 2000

Lymphangioleiomyomatosis(LAM) is a rare disease of unknown etiology that occurs mainly in woman in her reproductive age. We recently experienced two cases of bilateral diffuse cystic lesion of the lung on chest X-ray and HRCT. The first case, a 26-year-old female, who had been diagnosed with tuberous sclerosis by the presence of clinical manifestation such as mental retardation, bilateral renal angiomyolipoma, adenoma sebaceum and generalized seizure, was admitted due to a recently developed hemoptysis. Chest PA showed diffuse ground-glass opacity with radiolucent cystic lesions of various sizes on both lung fields. HRCT showed innumerable small cystic lesions with suspicious diffuse ground-glass opacity on both lung fields The second case, a 30-year-old fema1e was admitted due to dyspnea and spewing of blood-tinged sputum for 2 weeks, shortly after delivery. Chest PA showed diffuse reticular and ground-glass opacities on both lung field. HRCT showed multiple well-defined and relatively uniform size air cysts with a uniform wall thickness on entire both lung fields, with small amount of right pleural effusion. By thoracoscopic lung biopsy she was diagnosed with pulmonary lymphangioleiomyomatosis. We report these cases with a brief review of the literatures.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.3 no.1
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• pp.147-157
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• 1992

The fragile X syndrome, which is considered to be synonymous with the Martin-Bell syndrome, is a relatively common form of X-linked mental retardation. The syndrome seems to occure in many different ethnic groups and its prevalence among mentally retarded males has been estimated to be in the order of 2 to 6%. The karyotypic hallmark of the syndrome is made up with a pronounced constriction near each tip of the long arm of the X chromosome(fragile site), shown in vitro only under conditions in which thymidylate production is blocked(lowered folate levels). Special culture media are needed to demonstrate this constriction site. Major clinical features associated with the syndrome include macroorchidism, large or prominent ears, significant emotional and behavioral dysfunctions such as hyperactivity, self-injury, lack of eye contact and social interaction, schizophrenia, autism, etc., and speech and language dysfunctions ranging from nonverbal to verbal speech with moderate to severe expressive language delays. Some have minor clinical features in common such as an increase in birth weight high forehead, prognathism, increased head circumference in infancy and childhood which did not persist into adult life. The recent research findings have shown that the fragile X syndrome is associated with infantile autism. Many patients with the fragile X syndrome fulfill the diagnostic criteria for infantile autism. Therefore it is recommendable that any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fragile X examination. In the present review, historical aspects, incidence, and clinical features are presented. Recent anecdotal reports of the association with autism and the clinical improvement following high dose folic acid treatment will be discussed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.2
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• pp.244-251
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• 1999

Self-injurious behavior is often showed in mental retardation, especially in autism. Self-injurious behavior has been regarded as a symptom cluster rather than a disease but it is an emergent clinical situation that can directly affect mortality. This case is about a refractory autistic patient who showed a self-injurious behavior of hitting the head repetitively. He was hospitalized and was treated by pharmacotherapy and behavior therapy and for this reason this clinical experience is reported with literature review. The patient is a 7-year old boy who was ward admitted from 1999 April 20 till July 10 into OO hospital OO ward because of self-injurious behavior. During the 12 weeks he had admission treatment. As for the pharmacotherapy, haloperidol was dosed up from 0.5mg to 1.0mg from the 4th week and combination drug therapy was done during the admission with naltrexone 25-50mg. As for the behavioral therapy, Differential Reinforcement of Other behavior was used and regular play therapy was done. To remove the physical restraint, headgear and hard sleeve was used. Currently, OPD follow up treatment is being done and haloperidol 0.5mg and naltrexone 50mg is maintained. The patient’s mother is educated and play therapy is done an hour daily at home. When the patient was released form the hospital, self-injurious behavior was decreased more than the moderate state and remission state is still being maintained at the outpatient clinic.

• Journal of Dental Rehabilitation and Applied Science
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• v.28 no.4
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• pp.385-395
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• 2012

This clinical report presents the case using overlay dentures to treat a patient with cleft lip and palate and malocclusion. This patient requires vigorous treatment such as orthodontic treatment and combined orthodontic/oral surgery procedures. Overlay denture can be used as an alternative treatment option. Intraoral and radiographic examinations were done. The vertical dimension of occlusion was evaluated for proper prosthetic procedures and the surveying in the diagnostic cast was done. Considering the tissue and teeth undercut, the alterations of teeth shape were done. Final preparation and impression was performed. After the evaluation of vertical dimension and occlusion with wax-denture, the dentures were polymerized. Clinical remounting and occlusal adjustment were done on the articulator. Overlay dentures were delivered and the patient was recalled for relining. The overlay dentures satisfied patient's esthetic and functional requirements and provided a stable occlusion. Overlay dentures in this case were a reversible and relatively inexpensive treatment for this patient, however the potential possibilities of caries and periodontal disease as a result of poor oral hygiene should be prevented with periodic recall.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.45-52
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• 2010

Purpose: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over performance IQ in WS?; 2) Is there selective impairment in visuospatial ability in the children with WS? Materials and Methods: Five children with WS with the age of $90.86{\pm}20.73$ months were compared with 12 children with Prader-Willi syndrome (PWS) or Down syndrome (DS) with comparable age and IQ. Results: All 5 children with WS showed intellectual disability whose mean scaled scores were $15.71{\pm}9.27$ in verbal subtests and $14.29{\pm}7.50$ in performance subtests, which did not show significant difference. There was no significant difference in the total sum of scaled scores of verbal subtests among WS, PWS and DS. There was no selective impairment in subtests which represented visuospatial tasks for the children with WS. However, the scaled score of object assembly was significantly lower in WS ($2.29{\pm}0.95$) compared to that of PWS ($4.75{\pm}2.77$; P <0.05). Conclusion: The general notion that the children with WS would be relatively strong in verbal function when compared with their overall cognitive function was not observed in this study. The verbal function of the children with WS was not better when compared to the children with DS or PWS. There was no selective impairment of visuospatial function in the children with WS at this age. However, the visuospatial function was significantly low in the children with WS only when compared to the children with PWS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.65-69
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• 2019

Wolf-Hirschhorn syndrome(WHS) is a congenital disorder caused by deletions of the short arm of chromosome 4. The most common characteristics are mental and growth retardation, dietary disorder and craniofacial features with a characteristic 'Greek warrior helmet' appearance. The dental characteristic of WHS includes delayed development, tooth agenesis, clefts, microdontia, taurodontism, and severely worn dentition. The purpose of this case report is to describe the dental treatment of a patient with WHS. 3-year-old boy with WHS visited the Seoul National University Dental Hospital for dental treatment. He had difficulty with nasotracheal intubation because of craniofacial anomalies and also had poor oral hygiene due to a limitation of mouth opening and dietary disorder. Due to his airway problem, behavior management and severity of dental conditions, dental treatment was performed under general anesthesia. This case suggests general anesthesia can be chosen with WolfHirschhorn syndrome patients to safely care for their dental problems.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.2
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• pp.97-101
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• 2018

Lesch-Nyhan syndrome is a rare X-linked recessive genetic disorder. During purine metabolism, the hypoxanthine guanine phosphribosyl transferase (HGPRT) enzyme is deficient causing phosphoribosyl transferase to accumulate and resulting in excessive uric acid. Clinical symptoms include hypercalcemia, choreoathetosis, spasticity, mental retardation, and self-injury to lips, tongue or fingers. This results not only in pain caused by the self-injury but also secondary infection of the wound site and the esthetic damage of the soft tissue defect. Dental treatments include conservative methods using intraoral appliances such as soft mouthguards, fixed lip bumpers, and occlusal guards, and invasive methods such as extraction of all teeth or forming an artificial anterior open bite. We report two cases of Lesch-Nyhan syndrome patients with self-mutilation behavior; one was treated with a preservative method using a soft mouthguard, and the other was treated with extraction of all teeth.

• Journal of Radiation Protection and Research
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• v.47 no.1
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• pp.16-21
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• 2022

Background: Epidemiological observations such as mental retardation, physical deformities, etc., in children besides different types of cancer in the adult population of the Malwa region have been reported. The present study is designed to get insight into the role of naturally occurring radioactive material (NORM) in causing detrimental health effects observed in the general population of this region. Materials and Methods: Deep soil samples were collected from different locations in the Malwa region. Their activity concentrations were determined using low-level background gammaray spectrometry. High efficiency and high purity germanium detector capped in a lead-shielded chamber having a resolution of 1.8 keV at 1,173 keV and 2.0 keV at the 1,332 keV line of ⁶⁰Co was used in the present work. Data were evaluated with Genie-2000 software. Results and Discussion: Mean activity concentrations of ²³⁸U, ²³²Th, and ⁴⁰K in deep soil were found to be 101.3 Bq/kg, 65.8 Bq/kg, and 688.6 Bq/kg, respectively. The mean activity concentration of ²³⁸U was found to be three and half times higher than the global average prescribed by the United Nations Scientific Committee on the Effects of Atomic Radiation (UNSCEAR). It was further observed that the activity concentration of ²³²Th and ⁴⁰K has a magnitude that is nearly one and half times higher than the global average prescribed by UNSCEAR. In addition, the radioisotope ¹³⁷Cs which is likely to have its origin in radiation fallout was also observed. It is postulated that the NORM present in high quantity in deep soil somehow get mobilized into the water aquifers used by the general population and thereby causing harmful health problems. Conclusion: It can be stated that the present work has been able to demonstrate the use of low background gamma-ray spectrometry to understand the role of NORM in causing health-related effects in a general population of the Malwa region of Punjab, India.