• 대한장애인치과학회지
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• 제13권2호
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• pp.91-94
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• 2017

본 증례는 다발성 과백악질증 및 영구치의 맹출 지연을 나타내는 뇌성마비 병력 환자에 대해 보고이다. 현재 환자는 큰 불편감 없이 유구치를 유지하고 있으며 방사선 사진 검사를 통해 매복 영구치의 낭종 발생 여부를 확인하고 잔존 유치를 최대한 보존해야 한다.

• 대한소아치과학회지
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• 제26권1호
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• pp.151-156
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• 1999

1. 하순에 심한 self-mutilation wound를 야기한 Lesch-Nyhan syndrome 환아에서 상하악 유전치에 치관부 절단 및 치수 절제술을 시행하여 치아에 의한 자해를 방지하였다. 2. 장치를 이용한 치료가 어려운 경우 발치가 고려되기도 하나 본 증례에서는 발치보다 보존적인 술식으로 만족할 만한 결과를 얻었다.

• Journal of Preventive Medicine and Public Health
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• 제32권3호
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• pp.317-324
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• 1999

Objectives: Since 1991, nationwide massive neonatal screening program for phenylketonuria (PKU) and congenital hypothyroidism have been performed in Korea. As in many other countries, efficiency of this program has not been definitely concluded. For the purpose of evaluation of this program, from the perspective of efficiency, a cost-benefit analysis was carried out. Methods: Costs of the detection and the treatment program were compared with the projected benefit(avoided costs) that results from the prevention of the mental retardation associated with the disorders due to PKU and hypothyroidism. Costs and benefits were discounted at an annual rate of 5%, and duration of life-long labor was assumed to be 30 years. Cost and benefit were estimated based on the detection rates of one case of PKU per 5,572 and one case of congenital hypothyroidism per 32,554 babies screened during 1991-1997. Results: The benefit-cost ratio was 0.418. The sensitivity analysis for the discount rates and labor durations showed that most cost-benefit ratios were lower than one(1.0) except when discount rate was changed to 3% and detection rate to two- or threefold and/or labor duration to 40 years. Conclusion: The result of this study suggested that present program of mass screening for PKU and congenital hypothyroidism could not be justified in terms of efficiency. It doesn't coincide with the results of previous studies in major developed countries, presumably because of difference in detection rates and welfare cost for the disabled.

• 대한장애인치과학회지
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• 제2권2호
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• pp.147-152
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• 2006

자해 행동으로 인하여 하순이 심하게 손상된 Lesch-Nyhan 증후군 환아를 대상으로 소아 정신과와의 협진을 통한 약물 요법과 soft mouthguard를 이용한 보존적 치료로 단기간에 만족할 만한 결과를 보였다. 결론적으로 Lesch-Nyhan 증후군 환아의 자해를 예방하는 표준화된 방법이 있는 것은 아니지만 발치나 교정적 수술 등의 침습적인 방법 이전에 약물치료와 장치물 치료 등의 보존적 치료를 통한 접근이 먼저 있어야 한다. 그리고, 보존적 치료의 성공을 위해서는 정신과 전문의와의 협진이 요구되며 환자에 대한 보호자의 적극적인 관심과 구강 위생 관리가 반드시 필요하다.

• 대한소아치과학회지
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• 제36권1호
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• pp.145-149
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• 2009

Sturge-Weber Syndrome은 드문 선천성 질환으로 안면의 삼차신경 분포영역에 포도주양 반점(port wine nevus)을 나타내고, 녹내장 등의 안구 증상과 간질, 편측마비 등의 신경학적 증상 등을 동반한다. 또한 구강 내 증상으로 구강 점막의 편측성 혈관 증식, 치은의 혈관 증식, 치은 비대, 거대치, 편측성 거대설, 상악 또는 하악의 혈관 이상, 치아 맹출 이상 등을 나타낸다. 본 증례는 Sturge-Weber Syndrome으로 진단된 8세 남아의 구강 내 증상과 설강직증의 치료를 위해 설소대 절제술을 시행하여 양호한 결과를 보여 이를 보고하고자 한다.

• Journal of Genetic Medicine
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• 제2권1호
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• pp.17-22
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• 1998

The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management of the patients with the Lesch-Nyhan syndrome is frustrating and requires burdensome medical treatment since it cripples the patient and shortens the life span by progression of neurological symptoms, but there are no cures or measures for relieving relentless natural course of the disease yet. Therefore, prenatal diagnosis of the affected fetus is important in genetic counselling for the family at high risk. In this study, four different mutations in the HPRT gene of four probands have been identified in four unrelated families; K215X, Q109X, nt.631 ${\Delta}A$, and nt.289 ${\Delta}GT$. Two mutations among them altered restriction enzyme sites; SpeI for Q109X and MaeI for nt.289 ${\Delta}GT$. Based on their molecular defects, prenatal diagnoses of 3 the fetuses were successfully made between ninth and eleventh week of gestation by polymerase chain reaction (PCR), restriction digestion and DNA sequencing using cDNA obtained from chorionic villus samples (CVS). We predicted the outcome of all fetuses prenatally. Among the three fetuses two were male and one was female according to the identification made by PCR amplification of the sex determining region of the Y chromosome(SRY) gene. Each carried a wild type allele for the corresponding mutant allele. They were also tested postnatally for the mutations to be unaffected.

• Archives of Plastic Surgery
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• 제35권3호
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• pp.341-344
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• 2008

Purpose: Tuberous sclerosis is an autosomal dominant multisystemic neurocutaneous syndrome characterized by the development of multiple hamartoma distributed through the body, skin, brain, heart, kidney, and lung. The classic triad is seizure, mental retardation, and facial angiofibroma. We experienced a case of a tuberous sclerosis associated with the facial lesion and multiple masses on scalp, forehead, and right lower extremity. Methods: This a 34-year-old male patient had subependymal giant cell astrocytoma in brain and multiple angiomyolipoma in both kidneys. Tangential excision with razor blade and dermabrasion were done on the centrofacial area. We excised other lesions and the mass on scalp was excised and covered with split thickness skin graft. Results: The histopathological finding revealed that the facial lesion was angiofibroma and the others were multiple fibroma. Conclusion: In our case of tuberous sclerosis, we chose the tangential excision to remove the large nodules of angiofibroma, and then dermabrasion was used to smooth the final contour. The patient appeared to have a good results from this treatment modality. But, tuberous sclerosis is an disease that needs long term follow-up to check up the recurrence of skin problem.

• 대한장애인치과학회지
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• 제4권1호
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• pp.21-25
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• 2008

A 33-years-old female pateint with cerebral palsy showing spastic quardriplegia and severe mental retardation was scheduled for dental implant restorations. Before implant surgery we had to take implant CT. But, because of her involuntary motion and communication difficulty, sedation was needed in order to take CT. After 8 hour NPO, propofol infusion sedation with TCI (target controlled infusion) system was administered. The propofol blood concentration of the patient was maintained 2-3 ${\mu}$/ml to keep deep sedation to prevent uncontolled movement. During sedation, we monitored ECG, pulse oximetry, blood pressure, capnometry for patient safety. Oxygen was administered via nasal prong for preventing hypoxemia and to keep airway during sedation some bands were applied to lift mandible. Total duration was 20 minutes for taking CT, and she was discharged from hospital after 30 minute rest without complication.

• Clinical and Experimental Pediatrics
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• 제46권5호
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• pp.505-509
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• 2003

저자들은 빈번한 구토와 성장 장애, 발달 지연 등을 주소로 내원한 1년 7개월된 남아에서 HPRT에 대한 생화학적 효소 분석을 통해 진단하고, HPRT 유전자에 대한 분자유전학적 분석을 시행하여 병인이 되는 돌연변이가 확인된 Lesch-Nyhan 증후군 1례를 경험하였기에 이를 문헌고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제52권6호
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• pp.701-704
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• 2009

Smith-Magenis 증후군(SMS)은 17번 염색체에서 유전물질을 향유한 곳이 일부 떨어져 나가면서 생기는 질환으로, 신체, 발달 및 행동상의 특징적 이상이 나타나는 질환이다. 출생빈도는 출생아 25,000명 중에 한 명 꼴로 출생하는 것으로 알려져 있으나 최근 분자유전학적 진단 기술의 발달로 이 질환의 환자수가 점차 증가되고 있다. 다양한 임상증상과 더불어 수면장애, 경련에 대한 치료뿐만 아니라 적절한 언어, 행동학적 치료가 필요하다. 저자들은 SMS 환아 2예를 진단하고 치료하고 있는 경험이 있어 이를 보고하는 바이다.