• Journal of Genetic Medicine
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• 제14권1호
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• pp.23-26
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• 2017

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제30권3호
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• pp.127-131
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• 2019

Many neurologic disorders manifest as psychiatric symptoms. Anti-N-Methyl-D-Aspartate (NMDA) receptor encephalitis is an autoimmune disease of the brain characterized by numerous neurological and psychiatric features. Despite being rare, its prevalence is rapidly increasing and early management is critical in ensuring successful and sustainable recovery. Therefore, the illness should be considered as a differential diagnosis when clinically assessing patients. This report presents a case of a female child who was hospitalized for acute psychiatric manifestations, which was later confirmed as anti-NMDA receptor encephalitis. She recovered relatively successfully after combined neurological and psychiatric treatment. This report provides information on the clinical course of early onset anti-NMDA receptor encephalitis, including treatment strategy and prognosis.

• 대한유전성대사질환학회지
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• 제17권2호
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• pp.55-62
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• 2017

고셔병은 리소좀축적병으로 lysosomal hydrolase glucocerebrosidase 결여로 간비장비대, 골격계 증상, 빈혈, 혈소판 감소증의 증상을 나타내는 드문 상염색체 유전 질환이다. 본 증례에서는 18개월 남아에서 간비장비대, 성장 부진이 관찰되었으며 안구 운동 장애 및 발달 지연이 동반되어 제 3형 고셔병을 의심하였고 효소 분석 및 유전자 검사를 통해 확진하였다. 환아에서 한국인 신경형 고셔병에서 흔하게 관찰되는 c.754T>A(F213I)와 c.887G>A (R257Q)가 이형 접합체 돌연변이로 확인되었고 17개월 간의 효소 대체 요법을 통해 성장, 혈액학적 지표, 간비장비대 및 골증상은 호전되었지만 신경학적 증상의 호전은 없었고, 샤프론 중암브록솔에 유의한 반응이 있다고 알려져 있는 c.754T>A이 확인됨에 따라 환아에서 3개월간 암브록솔 치료를 시도하였지만 뚜렷한 임상적 치료 효과를 확인할 수 없었기에 본 증례를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제53권5호
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• pp.648-652
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• 2010

Purpose: A brain abscess is a serious disease of the central nerve system. We conducted this study to summarize the clinical manifestations and outcomes of brain abscesses. Methods: A retrospective chart review of pediatric patients diagnosed with brain abscesses from November 1994 to June 2009 was performed at Samsung Medical Center, Seoul, Korea. Results: Twenty-five patients were included in this study. On average, 1.67 cases per year were identified and the median age was 4.3 years. The common presenting clinical manifestations were fever (18/25, 72%), seizure (12/25, 48%), altered mental status (11/25, 44%), and signs of increased intracranial pressure (9/25, 36%). A total of 14 (56%) patients had underlying illnesses, with congenital heart disease (8/25, 32%) as the most common cause. Predisposing factors were identified in 15 patients (60%). The common predisposing factors were otogenic infection (3/25, 12%) and penetrating head trauma (3/25, 12%). Causative organisms were identified in 64% of patients (16/25). The causative agents were $S$ $intermedius$ (n=3), $S$ $aureus$ (n=3), $S$ $pneumoniae$ (n=1), Group B streptococcus (n=2), $E.$ $coli$ (n=1), $P.$ $aeruginosa$ (n=1), and suspected fungal infection (n=5). Seven patients received medical treatment only while the other 18 patients also required surgical intervention. The overall fatality rate was 16% and 20% of patients had neurologic sequelae. There was no statistical association between outcomes and the factors studied. Conclusion: Although uncommon, a brain abscess is a serious disease. A high level of suspicion is very important for early diagnosis and to prevent serious consequences.

• Pediatric Infection and Vaccine
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• 제22권1호
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• pp.23-28
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• 2015

목적: 호산구성 수막염은 척수액에서 호산구가 ${\geq}10/mm^3$ 또는 백혈구 중 10% 이상인 것으로 정의하며, 기생충에 의한 신경계 감염으로 주로 보고된다. 기생충에 의한 감염이 흔한 국가 외에서는 호산구성 수막염에 관한 소아에 대한 국내외 보고는 드물다. 이 연구는 국내 단일기관에서 소아 호산구성 수막염 임상특징 분석하고자 한다. 방법: 2007년 1월에서 2012년 7월까지 5년간 세브란스 어린이병원을 방문한(입원, 외래) 18세 미만의 환자들 총 6,335명을 스크리닝했고, 그 중 호산구성 수막염에 맞는 39명을 대상으로 의무기록을 바탕으로 후향적으로 분석하였다. 결과: 뇌척수액 검사상 호산구성 수막염으로 진단된 환자는 39명(0.6%)이었으며, 평균연령은 6세(생후 7일-18세)였고, 남녀의 비는 1.3:1이었다. 혈액검사에서 호산구 증가가 동반되는 경우가 18례(46%) 있었다. 기저질환 및 과거력으로 신경계 질환 36례(92%) 있었다. 항경련제를 복용한 경우는 22례가 있었고, 이외 다른 약물의 복용이 1례 있었다. 뇌수술 이후에 발생한 경우가 35례(90%)였다. 증상은 주로 발열(50%), 두통(20%), 구토(15%), 경련(10%), 어지러움증(5%) 등이 있었다. 뇌척수액의 단백 수치는 평균 180 mg/dL (16-633 mg/dL)로 상승된 값을 보였다. 증상 지속시간은 평균 5일로 치료는 정맥 항생제 및 스테로이드를 투여하였다. 세균배양 된 예가 1례, 애완동물을 기른 예가 1례 있었고 이외에 기생충 관련된 정보는 없었다. 결론: 국내 소아 호산구성 수막염은 기생충 감염보다는 중추신경계의 수술과 관련 있거나 약제에 의한 것으로 생각된다. 따라서 호산구성 수막염의 원인을 잘 고려하여 불필요한 검사나 치료를 줄일 수 있을 것이며, 향후 다기관을 통한 분석이 필요하다.

• 정신신체의학
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• 제10권1호
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• pp.55-60
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• 2002

중심성 뇌교 수초용해 (CPM) 및 뇌교의 수초용해(EPM) 은 대사 이상을 수반하는 여러 질환에서 뇌 세포 내외의 삼투질농도의 급속한 변화와 관련하여 발생하는 신경학적 질환이다. 저자들은 당뇨병성 신중에 의한 만성 신부전으로 신장이식을 받은 43세 남자 환자에서 발현한 CPM과 EPM 증례를 보고하였다. 환자는 망상, 연상이완, 환각, 부적절한 정동, 공격성, 기억장애 등을 수반한 정산병적 증상과 언어실조를 특징적으로 보인 경우로서, CPM과 EPM에서 비교적 드물게 발생하는 정신증상, 특히 정신병적 증상을 보인 증례이기에, 정선과적으로 중요한 임상적 의의를 가진다고 판단하여 문헌고찰과 함께 보고하는 바이다.

• 대한장애인치과학회지
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• 제6권1호
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• pp.15-18
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• 2010

1. 본 증례는 Strurge Weber syndrome으로 진단받은 11세 여아로 SWS의 3요소 중 연수막 맥관종, 안구이상의 소견을 보이고 있었다. 2. SWS는 여러 분야의 다원적 접근 및 치료계획이 필요하며, 여러 가지 구강 내 증상들을 동반할 수 있으므로, 구강 위생 교육과 정기적 구강검진을 실시하여 환자의 구강 건강을 증진시킬 수 있고 그들의 삶의 질을 향상시킬 수 있다는 점에서 치과의사의 역할이 중요하며 따라서 이 질병의 특징과 증상들에 대하여 잘 숙지할 필요가 있다. 3. SWS 환자에서 발치나 치은이나 구강점막의 외과적 시술이 시행되는 경우 심한 출혈을 일으킬 수 있으므로 세심한 주의를 필요로 한다.

• Clinical and Experimental Pediatrics
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• 제46권1호
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• pp.95-99
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• 2003

저자들은 뇌성마비로 진단받고 치료중 조절되지 않은 경련을 주소로 본과로 전원되어 자기 공명영상 촬영과 효소 측정법으로 Krabbe병의 조기 발현형으로 진단 받은 환자 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.139-144
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• 2016

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable seizures. A 7-year-old girl was admitted to our center because of ECCL and associated uncontrolled seizures. She was born with right anophthalmia and lipomatosis in the right temporal area and endured right temporal lipoma excision at 3 years of age. Seizures began when she was 3 years old, but did not respond to multiple antiepileptic drugs. Brain magnetic resonance (MR) imaging performed at 8 and 10 years of age revealed an interval increase of multifocal hyperintense lesions in the basal ganglia, thalamus, cerebellum, periventricular white matter, and, especially, the right temporal area. A nodular mass near the right hippocampus demonstrated the absence of N-acetylaspartate decrease on brain MR spectroscopy and mildly increased methionine uptake on brain positron emission tomography, suggesting low-grade tumor. Twenty-four-hour video electroencephalographic monitoring also indicated seizures originating from the right temporal area. Right temporal lobectomy was performed without complications, and the nodular lesion was pathologically identified as DNET. The patient has been seizure-free for 14 months since surgery. Although ECCL-associated brain tumors are very rare, careful follow-up imaging and surgical resection is recommended for patients with intractable seizures.

• 대한간호학회지
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• 제22권2호
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• pp.238-247
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• 1992

Immigration of Koreans to the United States has increased since the 1960's. Adjusting to life in the United States produces a great deal of stress for immigrants. Despite better economic opportunites, many see the U.S. culture as threatening to their family and cultural values. Differences in culture, language, expectations and social behavior can lead to misunderstandings between health care providers and clients. These misunderstanding can leaf to frustration on the part of each. The ultimate result of this is that often Korean-immigrants do not get their health care needs met and stress response symptoms can lead to disease if there is no appropriate care. To determine the health care needs and concerns of Korean-Americans, a health needs assessment is needed. Appropriate and adequate information about the health care needs of these individuals is important as it relates to American policy changes allowing greater numbers of immigrants to enter the U.S. The purpose of this prospective study was to describe Korean-American stress response. This study focused on the primary presenting problems for which subjects reported having sought care. These included a variety of stress-related symptoms, including peripheral manifestations, cardiopulmonary symptoms, central-neurological symptoms, gastrointestinal symptoms, muscle tension, habitual patterns, depression, anxiety, emotional irritability and cognitive disorganization. Of the 300 subjects who entered the study, 80% (N＝223) completed the questionnaire in full. Demographically, the percentage of females and males was 50% each and they ranged in age from 20 to 69 years. Ninety percent of the subjects were highly educated, 25% owners of business, 25% white collar professionals, 15% employed in sales or as skilled /unskilled labor, 30% had no occupation : and 5% were housewives or students. The SOS inventory is designed to quantify self-perception of behavioral, cognitive, and physiological components of the stress response. It consisted of 94 items divided into 10 subscales. The result of this study are as follows : The total mean 505 of all subjects (N＝223 was .8129 ; the mean 505 for male(N＝114) was .7665 and for females, (N＝108) .8594. The level of symptoms for central-neurologic and muscle tension was higher for than for males. The highest stress response of all subjects was emotional irritability symptoms(1.0644) : the lowest stress response of all subjects was peripheral manifestation symptoms.