A familial case with brachydactyly type C with a GDF5 mutation

예혜련,이범희,김자혜,조자항,김구환,김재민,최인희,유한욱 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.1

Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/orproximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5 )gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized bybrachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variabilityof the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics ofthis condition in the Korean population.

13세 남아에서 발견된 신동맥의 동맥류 증례 보고

예혜련,김민지,강은구,한지연,이주훈,박영서,Yeh, Hye Ryun,Kim, Min Jee,Kang, Eun Gu,Han, Jee Yeon,Lee, Joo Hoon,Park, Young Seo 대한소아신장학회 2014 Childhood kidney diseases Vol.18 No.1

Primary renal artery aneurysm has been estimated to account for an incidence of 0.015-1% with associated morbidities including renovascular hypertension and rupture. Renovascular hypertension associated renal artery aneurysms in children is not a common disease. In patients with complicated renal vascular disease, renal autotransplantation has been used as an alternative to percutaneous transluminal angioplasty, which may be hazardous in these situations. We report a case of a renal artery aneurysm in a 13-year-old Korean child presenting hypertension detected during school health examination. Preoperative workup demonstrated a $2.8{\times}2.1{\times}1.9$ cm saccular aneurysm in the right renal hilum that was not amendable to endovascular repair. A surgical strategy including extracorporeal renal artery reconstruction with autotransplantation was applied in order to restore renal artery anatomy and to treat renovascular hypertension. Immediately he complained of severe right flank pain and postoperative doppler sonography revealed lack of perfusion. On the 5th day after autotransplantation, the patient underwent a transplant nephrectomy. He was well postoperatively and was found to have a normal kidney function and stable blood pressure control without antihypertensive medication. This is the first pediatric case of renal artery aneurysm in Korea who underwent extracorporeal repair followed by autotransplantation failure. More pediatric cases with renal artery aneurysm should be reported to identify therapeutic outcome and long term prognosis. 소아에서 신장동맥의 동맥류는 신혈관성 고혈압 가운데 드문 질환으로 하나로 수술적인 치료법 가운데 복잡한 형태의 동맥류의 경우 신혈관 재건술과 신장 자가이식술이 현재 선호되고 있는 수술법이다. 본 저자들은 13세 소아환자에서 우연히 정기건강검진에서 발견된 고혈압에 대해 시행한 전산화 단층 혈관촬영술을 통해 발견된 일측성 신장동맥의 동맥류에 대해 보고한다. 환아는 $2.8{\times}2.1{\times}1.9$ cm의 크기의 우측 낭포성 동맥류가 발견되었으며, 분지혈관이 복잡하고 병변이 신문부에 위치하여 신혈관 재건술과 신장 자가이식을 시행하였다. 그러나 도플러 신장 초음파를 통해 신장 혈류가 매우 감소하였음을 확인 후 신장 자가이식 한지 5일째 신절제술을 시행하였다. 병리적 소견은 전반적인 신장 허혈성 변화를 보였고, 섬유근성 형성장애를 시사하는 소견은 없었다. 본 저자들은 국내에서 현재까지 보고된 바 없는 신혈관성 고혈압 및 일측성 신동맥의 동맥류로 진단된 소아를 대상으로 체외 신혈관 재건 및 신장 자가이식을 시도한 증례를 보고하였다. 추후에 신동맥의 동맥류와 관련된 신혈관성 고혈압의 치료에 대한 다양한 방법 및 장기적인 추적 관찰에 대한 보고가 추가되어야 할 것이다.

소아 코로나바이러스감염증-19에 동반된 중증천식악화 1예

예혜련,임미선,서현주,이은정,김중곤,염혜영 대한 소아알레르기 호흡기학회 2022 Allergy Asthma & Respiratory Disease Vol.10 No.4

Epidemiological evidence suggests that the severity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is lesser and morbidity and mortality rates are lower in children than in adults. Although respiratory viral infections are major triggers of asthma exacerbations in children, the association between asthma and SARS-CoV-2 infection remains unclear. We describe a previously healthy 13-year-old male adolescent who developed severe acute asthma exacerbation following coronavirus disease 2019 (COVID-19) infection. This case report describes new-onset asthma as severe exacerbation following COVID-19 infection and highlights the importance of ongoing surveillance of the wide spectrum of COVID-19 manifestations in children.

Cytomegalovirus Infection in Pediatric Renal Transplant Recipients: A Single Center Experience

김미진,유지혜,예혜련,이진아,이주훈,박영서 대한소아신장학회 2017 Childhood kidney diseases Vol.21 No.2

Purpose: To investigate the frequency, presentation, management, and outcome of cytomegalovirus (CMV) infection in pediatric patients who underwent renal transplantation. Methods: We performed a retrospective chart review of 70 patients under the age of 18, who underwent renal transplantation between January 1990 and November 2014. A diagnosis of CMV infection was based on serology, molecular assays, antigenemia assays, and culture. CMV infection was defined as detection of virus and CMV disease was diagnosed when clinical signs and symptoms were present. Results: The number of patients with CMV infection was 18 (25.7% of renal transplant recipients). Twelve were male (66.7%), and the mean±standard deviation (SD) age at infection was 13.3±3.9 years. Median time of infection after renal transplantation was 4 months (range 1.0-31.0 months). Pretransplantation CMV status in the infected group was as follows: donor (D)+/recipient (R)+, 11 (61.1%); D+/R-, 7 (38.9%); D-/R+, 0; and D-/R- 0. Nine patients had CMV disease with fever, leukopenia, thrombocytopenia, or organ involvement such as enteritis, hepatitis, and pneumonitis. The age of disease occurrence was 13.1±3.9 years and the median time to disease onset after renal transplantation was 8 months (range 1.0-31.0). Immunosuppressive agents were reduced or discontinued in 14 patients (77.8%), antiviral agents were used in 11 patients (61.1%), and all patients with CMV infection were controlled. Conclusions: A quarter of the patients had CMV infection about 4 months after renal transplantation. CMV infection was successfully treated with reduction of immunosuppressants or with antiviral agents.

A case of generalized tonic seizures related to acute myocarditis

양정환,나재윤,이진석,김다은,송진영,강이석,예혜련 대한소아응급의학회 2020 대한소아응급의학회지 Vol.7 No.2

It is challenging to clinically distinguish between convulsive syncope and true seizure. We describe a 7-year-old girl presenting with generalized tonic seizure caused by acquired complete atrioventricular block related to acute myocarditis. After hospitalization following 6 episodes of new-onset fever with seizure, she had a short episode of abrupt complete atrioventricular block followed by another generalized tonic seizure. The concentrations of cardiac enzymes were elevated, and her echocardiogram showed a decreased left ventricular function. This case underlines the necessity of cardiac investigations in children with convulsive syncope.

서울 시내 4년제 남자 대학생의 우울과 흡연량, 흡연기간, 니코틴 의존도와의 관계

박지영,박소영,이미숙,백수진,신의경,예혜련,오승진,장윤정,조혜진,김수지 이화여자대학교 간호과학대학 2003 이화간호학회지 Vol.- No.37

Background: With reports on the relation between smoking and depression appearing since 1980, it has become clear that depression is one of the psychodynamics of smoking, though there has been little or no progress made in the study of whether or not there is indeed a relation between depression and nicotine dependence. Purpose: The purpose of the study was to investigate the effects of depression on the amount and period of smoking and nicotine dependence among university man student smokers. Method: In periodical examination between 14 and 21, May, 2003, using 170 university male. The CES-D(Center for Epidemiologic Studies Depression) Scale and the FTQ(Fagerstrom Tolerance Qustionnaire) were utilized to measure the level of depression and nicotine dependency. The amount of smoking was calculated based on the number of cigarette used. Result: Results indicated that depression had something to do with amount of smoking. Nicotine dependence also was related to depression but total value was relatively low. finally the period of smoking had nothing to do with depression. Conclusion: The results of this study revealed that the amount of smoking of university man student smokers was very high. Both the amount of smoking and nicotine dependence were affected by levels of depression. Accordingly psychiatric nursing access such as emotional support is needed to manage depression and decrease smoking.

소아에서의 히라야마병 2예

안현지(Hyunji Ahn),염미선(Mi Sun Yum),김현진(Hyun Jin Kim),예혜련(Hye Ryun Yeh),고태성(Tae Sung Ko) 대한소아신경학회 2018 대한소아신경학회지 Vol.26 No.1

히라야마병은 감각 및 중추신경계의 증상 없이 상지의 근위축과 근력약화가 진행하는 경추척수증으로 매우 드문 질환이다. 이에 저자들은 일측 손목 하수와 일측 근력약화, 근위축을 보인 소아에서의 히라야마병 2예를 보고하는 바이다. 첫번째 환자는 16세 남아로 좌측 손목 하수와 함께 동측의 2-5번째 손가락의 떨림이 진행하는 것으로 내원하였고, 신체진찰상 중수수지, 지절간관절의 근력약화, 배측골간근, 소지외전근의 근위축이 확인되었다. 두번째 환자는 14세 남아로 우측 손의 근력약화와 글씨를 바르게 쓰기 어려운 것이 진행하여 내원하였고, 신체진찰상 천지굴근, 모지대립근, 충양근, 척측수근굴근, 심지굴근, 소지굴근, 무지내전근, 배측골간근, 수장측골간근의 근력약화와 무지구근, 중간구근의 근위축이 확인되었다. 두 환자는 특별한 과거력은 없었고, 전해질 및 혈당 검사는 정상이었다. 운동신경전도검사에서 척골신경과 요골신경의 운동신경활동전위진폭이 감소하였고, 척추자기공명영상검사에서 전자는 정상이었으나 후자는 C5-C7의 앞쪽 척수가 약간 비대칭적으로 얇아진 소견이 확인되었다. 두 환자 모두 경추굽힘을 피하도록 하면서 재활치료를 받으면서 증상의 추가적인 진행은 없었다. 히라야마병은 유병률이 높지 않아 쉽게 간과되거나 오진될 수 있으나 조기에 진단하여 반복적인 경추굽힘으로 인해 병이 진행하지 않도록 예방할 수 있는 병이다. 그러므로 소아에서 감각이상 없이 원위부 근력 약화나 근위축을 보일 때 히라야마병의 가능성을 고려하는 것이 중요하겠다. We report two pediatric cases with Hirayama disease-a 16-year-old boy with a left wrist drop and a 14-year-old-boy with weakness and muscle atrophy of right hand. Motor nerve conduction study revealed decreased motor nerve action potential amplitudes in the ulnar nerve and radial nerve of the affected hands. The former patient showed normal magnetic resonance imaging (MRI) of the cervical spine, but the latter showed mild, asymmetric thinning of the anterior spinal cord at levels C5 to C7. Following active rehabilitation and avoidance of neck flexion, no further progression of neurological findings was noticed. These clinical findings were typical of Hirayama disease. We show that timely and accurate diagnosis for Hirayama disease is possible with awareness of disease history, careful physical examination, and the use of neurophysiological studies and MRI studies.

소아에서의 하시모토 뇌병증 2례

안은지(Eun Ji Ahn),염미선(Mi Sun Yum),김민지(Min Jee Kim),예혜련(Hye Ryun Yeh),고태성(Tae Sung Ko) 대한소아신경학회 2016 대한소아신경학회지 Vol.24 No.3

하시모토 뇌병증은 항갑상선과산화효소 항체, 항사이로글로불린 항체와 같은 갑상선 자가면역 항체의 상승과 관련된 뇌병증으로 나타나는 드문 질환이다. 이에 저자들은 급성 인지 장애를 보인 소아에서의 하시모토 뇌병증 2례를 보고하는 바이다. 첫번째 환자는 11세 여아로 하시모토 갑상선염의 과거력이 있고 갑상선 호르몬은 정상 수치로 유지되고 있었던 환자이며 두번째 환자는 15세 여아로 특별한 과거력은 없었다. 두 환자는 모두 급격히 발생한 의식혼탁을 주소로 내원하였고 혈청에서 항갑성선과산화효소 항체와 항사이로글로불린 항체의 증가가 관찰되었다. 다른 감염이나 자가면역질환을 시사하는 검사 소견은 확인되지 않았다. 두 환자는 스테로이드 치료 후에 신경학적 증상의 호전을 보였다. 하시모토 뇌병증은 비 특이적인 증상으로 진단에 어려움이 있을 수 있으나 진단되고 치료 후에는 대부분 가역적인 경과를 가지는 것으로 알려져 있다. 그러므로 소아에서 설명되지 않은 뇌병증을 보일 때 하시모토 뇌병증의 가능성을 고려하는 것이 중요하겠다. Hashimoto’s encephalopathy (HE) is an uncommon syndrome characterized by encephalopathy associated with elevated levels of anti-thyroid antibodies including anti-thyroperoxidase (TPO) and/or anti-thyroglobulin (TG) antibodies. We report two pediatric cases that presented with acute cognitive deteriorations. The first patient (an 11-year-old girl) had Hashimoto’s thyroiditis with normal thyroid function and was admitted due to altered mentality and headache. Etiological examinations ruled out other causes of encephalopathy except for the elevated levels of anti-TPO and anti-TG antibodies. The second patient was a previously healthy 15-year-old girl who presented with sudden onset confusion. An increased level of anti-thyroid antibodies was identified while other physical and laboratory examinations were unremarkable. The neuropsychiatric symptoms for both patients improved significantly following treatment with high-dose methylprednisolone. HE is often misdiagnosed due to its nonspecific symptoms; however, it is usually reversible with appropriate therapy. Therefore, it is important to consider HE in children with unexplained encephalopathy.

소아기 발병 난치성 뇌전증 환자에서 Rufinamide의 효용성과 안전성

안현지(Hyunji Ahn),염미선(Mi-Sun Yum),김민지(Min-Jee Kim),예혜련(Hye-Ryun Yeh),고태성(Tae-sung Ko) 대한소아신경학회 2017 대한소아신경학회지 Vol.25 No.2

목적: 본 연구에서는 소아기에 발병한 난치성 뇌전증 환자를 대상으로 보조적 요법으로 사용한 rufinamide의 효용성과 안전성을 확인 해보고자 하였다. 방법: 서울아산병원 어린이병원에서 난치성 뇌전증으로 rufinamide를 처방받은 70명의 환자들의 의무기록을 후향적으로 분석하였다. 의무기록이 불완전한 2명의 환자를 제외한 68명의 환자가 연구에 참여하였다. Rufinamide는 기존의 항경련제에 보조요법으로 사용하였고 발작의 빈도는 rufinamide 투여 전 4주 간의 발작 횟수 와 투약 3개월, 12개월 후의 발작 횟수를 비교하여 평가하였다. 결과: 평균연령은 10.5세(범위, 1-24세)이었으며 남자가 43명, 여자는 25명이었다. 투여 3개월에 7.4%가 발작 완전 관해되었고, 발작 빈도가 50% 이상 감소한 반응군은 41.2% 이었다. 투여 12개월에는 10.3%가 발작 완전 관해되었고, 반응군은 42.6%였다. 약물 유지율 은 3개월에 75%, 12개월에 66.2%로 확인되었다. 부작용은 29명의 환자에서 보고되었으며 발작 악화, 기면, 불면, 감기 증상, 구역, 구토 순으로 많았다. 결론: Rufinamide가 레녹스-가스토 증후군에 특화된 약물이기는 하나 기타 소아기에 발생한 난치성 뇌전증 환자들에서도 효과적이고 안전하게 투여할 수 있는 약물이라는 것을 확인할 수 있었다. Purpose: This study is aimed to evaluate the effectiveness and tolerability of rufinamide as add-on therapy in patients with intractable epilepsies. Methods: We retrospectively reviewed the medical records of 70 patients treated with rufinamide in Asan Medical Center, children’s hospital. Two cases with incomplete medical records were excluded and total sixty-eight cases were enrolled. Rufinamide was added on the existing antiepileptic drugs and the total seizure frequency at pre-medication, 3 months and 12 months were examined. Results: The mean age of 68 patients (43 male) was 10.5 yrs (range, 1-24 yrs). At 3 months after rufinamide initiation, 5 patients achieved freedom from seizures and 28 (41.2%) achieved a ≥50% seizure reduction. At 12 months, 7 patients achieved seizure freedom and 29 (42.6%) achieved ≥50% seizure reduction. The retention rate was hold up to 75.0% at 3 months and 66.2% at 12 months of study. Total 29 patients reported adverse events in order of seizure aggravation, somnolence, insomnia, common cold, nausea and vomiting. Conclusion: In this study, rufinamide is effective and tolerable in patients with other intractable epilepsy of childhood onset as well as the patients with LGS. Further research is required to define the efficacy of rufinamide in intractable epilepsy other than LGS.