Benign convulsion with mild gastroenteritis

강빈,권영세 대한소아청소년과학회 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.7

Benign convulsion with mild gastroenteritis (CwG) is a type of afebrile seizure that occurs in children. CwG is defined as a convulsion in a previously healthy child with no known central nervous systeminfection or encephalopathy, accompanying mild diarrhea without fever, electrolyte imbalance, ormoderate to severe dehydration. Convulsions in CwG are characterized by multiple brief episodes ofgeneralized or focal seizures. Although the etiology and pathophysiology have yet to be fully explained,many pathogenic mechanisms have been proposed including the possibility of direct invasion ofthe central nervous system by a gastrointestinal virus such as rotavirus or the possibility of indirectinfluence by the production and effects of certain mediators. The electroencephalogram findings arebenign and long-term antiepileptic treatment is typically not required. Long-term prognosis has beenfavorable with normal psychomotor development. This review provides a general overview of CwG withthe goal of allowing physicians practicing in the field of pediatrics to better recognize this unique entityand, ultimately, to minimize unnecessary evaluation and treatment.

동반된 기형이 없는 인간 꼬리 1례

강빈,오성근,손병관,권영세,임명관,최윤미,최석진 대한소아신경학회 2011 대한소아신경학회지 Vol.19 No.3

Human tails or caudal cutaneous appendages are rare congenital anomalies with lesions usually arising from the midline of the lumbosacrococcygeal area. There have been only around 70 cases reported in literature. A 4-month-old male infant born as the 1st child of a dizygotic twin was presented with a penis-shaped mass of 4- cm in the coccygeal area. The mass was entirely covered by skin without any skin defect and was connected to the midline skin of the posterior coccygeal area by a stalk. Magnetic resonance images showed fat density of the mass without any demonstrable communication with the spinal canal nor any underlying central nervous system anomalies. The patient underwent a simple surgical excision of the mass without residual effects and complications. Histopathologic examination of the mass revealed lobules of mature adipose tissue, fibromuscular soft tissue, small vessels and nerves with normal hair follicles on the skin. 인간 꼬리는 요천미추부의 중앙선에서 발생하는 매우 드문 선천성 기형이다. 인간 꼬리는 종종 여러 중추신경계 기형들을 동반할 수 있다. 본 저자들은 동반된 중추신경계 기형이 없는 인간 꼬리 1례를 경험하였기에 보고하는 바이다.

특발성 성조숙증 여아에서 진단된 Mayer-Rokitansky-Küster-Hauser (MRKH) 증후군 1례

강빈,박소현,김동현,이병익,김미영,이지은 대한소아내분비학회 2012 Annals of Pediatirc Endocrinology & Metabolism Vol.17 No.2

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder characterized by the congenital absence or hypoplasia of the uterus and the upper two thirds of the vagina due to müllerian duct malformation during embryogenesis. MRKH syndrome usually presents as primary amenorrhea in adolescence in females showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. For this reason, MRKH syndrome usually remains undiagnosed until primary amenorrhea or difficulty in sexual intercourse occurs. In this study, a case of MRKH syndrome diagnosed in a child with idiopathic precocious puberty is reported. 본 증례는 특발성 진성 성조숙증이 있었던 여아에서 MRKH 증후군이 진단된 경우이다. 진성 성조숙증으로 GnRHa 치료 중단 후에도 초경의 발생 여부를 예의주시해야 하며, 신체검진과 골 연령 검사에서 시기적으로 초경이 예상됨에도불구하고 장기간 일차성 무월경이 지속될 경우 MRKH 증후군 가능성을 고려해 봐야 한다. 또한, 최근 사회의 발달에따른 서구화된 생활 양식으로 인해 성조숙증 환아가 급증하고 있는 추세이고, 이에 따라 본 환아와 같이 MRKH 증후군이 발견되는 경우가 증가할 것으로 예상되어 증례를 보고하였고, 문헌 고찰을 통해 MRKH 증후군에 대해 소개하였다.

특발성 중추성 요붕증이 동반된 터너 증후군 1례

강빈,이지은,성현우,김복기,박신영,김순기,권영세,임명관 대한소아내분비학회 2011 Annals of Pediatirc Endocrinology & Metabolism Vol.16 No.1

본 증례의 환아는 염색체 검사에서 45,X/46,XX의 핵형을 가진 터너 증후군으로 진단되었고, 수분제한 검사 및 항이뇨 호르몬 투여후 요 삼투압이 증가하여 중추성 요붕증에 합당하였다. 또한, 뇌하수체 자기공명 영상에서 뇌하수체 줄기의 비후를 보였으나, 2년 관찰 과정 중에 뇌하수체 줄기의 비후는 저절로 소실되었다. 터너 증후군에서 심혈관계 질환, 신기형, 안과적 이상 및 내분비 질환 등이 동반되는 것으로 잘 알려져 있다. 반면, 터너 증후군에서 중추성 요붕증이 보고된 적은 드물며, 뇌하수체 자기공명 영상을 처음으로 시행하였기에 보고하는 바이다. We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome.(J Korean Soc Pediatr Endocrinol 2011;16:56-60)

모유 수유아에서 발생한 구루병 경련의 임상양상

강빈(Ben Kang),정숙영(Sook Young Jung),김순기(Soon Ki Kim),이지은(Jee Eun Lee),손병관(Byong Kwan Son),권영세(Young Se Kwon) 대한소아신경학회 2012 대한소아신경학회지 Vol.20 No.3

목 적 : 모유 수유에 의한 비타민 D 결핍성 구루병에 관한 연구들이 활발히 진행되고 있는 반면에 이때 발생하는 경련에 관한 연구는 없다. 이에 저자들은 완전 모유 수유에 의해 비타민 D 결핍성 구루병이 있었던 환아에서 발생하는 경련의 임상양상 대하여 알아보고자 하였다. 방 법 : 2000년 1월부터 2010년 12월까지 인하대병원 소아청소년과 외래를 방문하였거나 입원하였던 환아 중 완전 모유수유를 하면서 구루병을 진단 받았던 환아들을 대상으로 후향적으로 조사하였다. 경련군과 비경련군으로 나눈 후, 두 군간의 임상적 특성과 생화학적 검사 결과를 비교 분석하였고, 경련 발생의 상대 위험도를 평가하였으며, 경련군에서 발생한 경련의 임상 양상에 대해 조사하였다. 결 과 : 완전 모유수유를 하면서 구루병을 진단받은 17명의 환아중 9명(53.0%)에서 경련이 발생하였고, 8명(47.0%)에서는 경련이 없었다. 두 군의 진단당시 평균 연령은 각각 4.1±2.0개월, 9.3±2.7개월로 경련군에서 통계적으로 의미 있게 낮았다( P<0.0001). 혈액 검사에서 혈청 Ca 수치는 각각 5.7±1.0 mg/dL, 9.5±0.9 mg/dL으로 경련군에서 통계적으로 의미 있게 낮았다( P<0.0001). 혈청 25-OHD3 수치는 각각 5.7±0.8 IU/L, 15.3±4.2 IU/L으로 경련군에서 통계적으로 의미 있게 낮았다( P<0.0001). 경련 발생의 상대 위험비는 저칼슘혈증이 있있을때가 8배였고, 혈중 25-OHD3 수치가 8 ng/mL 미만일 때가 17배였다. 경련은 5분 미만의 전신 발작 또는 1분 미만의 부분 발작 형태로 다회성으로 나타났으나, 향후 간질이 발생하거나 항경련제를 투여받거나 비정상적인 신경 발달을 보인 환아는 없었다. 결 론 : 완전 모유 수유아에 의한 비타민 D 결핍성 구루병 환아에서 발생하는 경련은 저칼슘혈증에 의해 발생하고, 저칼슘혈증은 혈중 25-OHD3 농도의 영향을 받는다. 또한, 체내에서 칼슘 요구량이 많은 급성장 시기의 모유 수유아에서는 경련이 다른 시기 보다 쉽게 발생할 수 있다. 완전 모유 수유아에 의한 비타민 D 결핍성 구루병 환아에서 발생하는 경련은 다회성으로 발생했으나 예후는 양호했다. 추후, 보다 많은 환아들을 대상으로 하는 대규모 전향적 연구가 필요하다. Purpose : This study was aimed to evaluate the clinical features of seizures in breastfed children with vitamin D deficient rickets. Methods : Seventeen children, breastfed and diagnosed as vitamin D deficient rickets at Inha University Hospital from January 2000 to July 2010, were retrospectively investigated. Subjects were divided into two groups according to the presence/absence of seizures. Demographic and biochemical results were compared and statistically analyzed between the two groups, and the relative risk for seizure occurrence was estimated. Clinical features of seizures were also analyzed. Results : Out of the 17 subjects, nine patients (53.0%) had seizures, while eight patients(47.0%) did not. The mean age for the two groups were 4.1±2.0 months and 9.3±2.7 months, respectively, which was statistically different between the two groups ( P<0.0001). Serum calcium(Ca) and 25-hydroxyvitamin D3 (25-OHD3) levels were significantly lower in the 'seizure' group(5.7±1.0 vs. 9.5±0.9 mg/dL, P<0.0001; 5.7±0.8 vs. 15.3±4.2 IU/L, P<0.0001). The relative risk for seizure occurrence was 8 times higher in hypocalcemia and 17 times higher in 25-OHD3<8 ng/mL. Seizures occurred several times as generalized or focal types, but none of them developed epilepsy nor showed developmental abnormalities later on. Conclusion : Seizures in breastfed children with vitamin D deficiency rickets are mainly due to hypocalcemia, which is affected by 25-OHD3 levels. Seizures may also occur more frequently in children in the stages of rapid growth. Although seizures occurred multiple times, future outcomes were favorable. Further large-scaled prospective studies are required in the future.

Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients

천지영,강빈,이유민,이수연,김미진,최연호 대한소아소화기영양학회 2013 Pediatric gastroenterology, hepatology & nutrition Vol.16 No.3

Purpose: This study was aimed to evaluate the frequency and course of adverse events associated with azathioprine treatment in Korean pediatric patients with inflammatory bowel disease. Methods: Total of 174 pediatric patients (age range, 1 to 19 years) with inflammatory bowel disease who received azathioprine in order to maintain remission at Samsung Medical Center (Seoul, Korea) from January 2002 through December 2012 were included in this study. Medical records of these subjects were retrospectively reviewed regard-ing the development of adverse events associated with azathioprine treatment.Results: Ninety-eight patients (56.3%) of 174 patients experienced 136 episodes of adverse events, requiring dose reduction in 31 patients (17.8%), and discontinuation in 18 patients (10.3%). The mean dose of azathioprine that had been initially administered was 1.32±0.42 mg/kg/day. Among the adverse reactions, bone marrow suppression developed in 47 patients (27.0%), requiring dose reduction in 22 patients (12.6%) and discontinuation in 8 patients (4.6%). Other adverse events that occurred were gastrointestinal disturbance (15.5%), hair loss (12.1%), pancreatitis (7.5%), arthralgia (6.9%), hepatotoxicity (2.9%), skin rash/allergic reactions (2.9%), headache/dizziness (2.3%), sepsis (0.6%), and oral mucositis (0.6%). Conclusion: Bone marrow suppression, especially leukopenia was most commonly associated with azathioprine treatment in Korean pediatric inflammatory bowel disease patients. Close observation for possible adverse events is required in this population with inflammatory bowel diseases who are under treatment with azathioprine. (Pediatr Gastroenterol Hepatol Nutr 2013; 16: 171∼177)

Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study

정유주,강빈,최소윤,기창석,이수연,박형두,최연호 대한소아소화기영양학회 2014 Pediatric gastroenterology, hepatology & nutrition Vol.17 No.4

Purpose: There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center. Methods: We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Clinical manifestations, laboratory results, treatment, and prognosis were investigated. Results: Twenty-one patients were included in the study. The types of 17 patients were confirmed by enzyme activity tests and/or gene analysis. GSD Ia was diagnosed in 7 patients (33.3%), Ib in 1 patient (4.8%), III in 2 patients (9.5%), IV in 1 patient (4.8%), and IX in 6 patients (28.6%). Types other than GSD I constituted 52.9% (9/17) of the patients diagnosed with a specific type of hepatic GSD. The median age at presentation was 2 years. Hepatomegaly was observed in 95.2%, elevated liver transaminases in 90.5%, and hyperlactacidemia in 81.0% of the patients. The duration for follow-up was 77±62.0 months. Uncooked corn starch was initiated in all the patients. No mortality was observed during the follow-up period, and liver transplantation was performed in 14.3%. Conclusion: Types other than GSD I comprised more than half of the patients diagnosed with a specific type of hepatic GSD. Clinical suspicion and thorough evaluation of hepatic GSDs in Korea should be focused not only on GSD I, but also on other types.

알레르기비염 인지도 조사를 위한 설문지 개발

최은혜,강빈,이희영,강희숙,임대현,손병관,김정희 대한 소아알레르기 호흡기학회 2010 Allergy Asthma & Respiratory Disease Vol.20 No.3

Purpose:Despite the increasing prevalence of allergic rhinitis, there are difficulties in early diagnosis and proper treatment due to lack of education and misunderstanding of the disease. Development of efficient education materials based on the level of awareness of allergic rhinitis is required. Therefore, this study was aimed to develop a questionnaire for investigating the level of awareness of allergic rhinitis. Methods:Questions related to the level of awareness of allergic rhinitis were prepared on the basis of the literature, professional advice and inquiries from patients and caregivers. These items were categorized into 4 areas: (1) basic knowledge, (2) symptoms, (3) diagnosis and environmental management and (4) treatment. Through the eight preliminary survey on 38 adults, a questionnaire of 60 items was developed. The results were analyzed by using SPSS 12.0. Results:A tool for investigating the level of awareness was completed, which was composed of 20 items with an internal reliability of 0.67. According to the results of the survey with 60 items, the areas of basic knowledge, symptoms and environmental management of allergic rhinitis showed high awareness. The items regarding the association between allergic rhinitis and asthma, necessity of regular checkup, awareness of maintenance treatment, importance of treatment with intranasal steroids, and the influence of treatment on immunity, growth and development of patient showed low awareness. Conclusion:A reliable tool was developed for investigating the level of awareness of allergic rhinitis. It may be useful in developing educational materials to optimize its educational effect on allergic rhinitis. 목 적:알레르기비염은 유병율이 지속적으로 증가하고 있고, 그로 인한 사회적 비용도 증가하고 있다. 하지만, 질환에 대한 교육 부족과 잘못된 정보로 인하여 질환의 조기 진단과 적절한 치료에 어려움이 있다. 알레르기비염에 대한 인지도에 근거한 효율적인 교육 도구 개발이 필요하나, 현재 국내에는 알레르기비염에 대한 인지도를 측정할 수 있는 도구가 부재하다. 이에 저자들은 알레르기비염에 대한 인지도 조사 도구를 개발하고자 하였다. 방 법:알레르기비염의 이론적 측면에 관한 문헌 및 전문가의 조언과 알레르기비염 교육 및 상담을 통한 환자, 보호자들의 질문을 수집하여 설문 문항을 작성하였다. 문항은 알레르기비염에 관한 일반지식, 증상, 진단 및 환경관리, 치료의 4가지 영역으로 나누었다. 8회의 예비조사를 통해 60문항의 설문지를 만들었고, 알레르기비염 환자, 보호자, 일반인으로 구성된 성인 38명을 대상으로 조사하였다. 설문된 결과는 SPSS 12.0을 이용하여 분석하였다. 결 과:내적 신뢰도가 0.67인 20문항의 인지도 측정 도구를 완성하였다. 60문항의 설문 결과, 알레르기비염의 정의, 일반지식, 증상에 대한 인지도는 높았고, 환경관리 중 집먼지 진드기, 꽃가루, 동물 관리에 대한 인지도가 높게 나타났다. 알레르기비염과 천식과의 연관성, 정기적인 검사의 필요성에 대한 인지도는 낮았다. 유지치료, 비강흡입식 스테로이드제 치료의 중요성, 치료가 환자의 면역력, 성장, 발달에 영향을 끼치는 지에 대한 인지도도 낮았다. 결 론:알레르기비염에 대한 인지도를 측정할 수 있는 신뢰도 있는 도구를 개발하였다. 저자들이 개발한 도구는 알레르기비염에 관한 교육 효과를 증대시키는 자료 개발에 유용할 것으로 사료된다.

Development of multifocal nodular lesions of a liver mimicking hepatic metastasis, following resection of an insulinoma in a child

정숙영,강빈,최윤미,김준미,김순기,권영세,이지은 대한소아청소년과학회 2015 Clinical and Experimental Pediatrics (CEP) Vol.58 No.2

Insulinoma, which arises from insulin-producing pancreatic beta cells, is a rare tumor in children. Only 5%–10% of insulinomas are malignant and undergo metastasis. We report a case of an 11-year-old girl who experienced hypoglycemia-related seizures induced by an insulinoma; after resection of the primary tumor, she developed hepatic focal nodular hyperplasia (FNH). Laboratory test results indicated marked hypoglycemia with hyperinsulinemia. Abdominal ultrasonography (US) and computed tomography results were normal; however, magnetic resonance imaging (MRI) showed a solid mass in the pancreatic tail. Therefore, laparoscopic distal pancreatectomy was performed. Two months after the surgery, an abdominal MRI revealed multiple nodular lesions in the liver. An US-guided liver biopsy was then performed, and histological examination revealed FNH without necrosis or mitotic activity. The patient has been free of hypoglycemia for 2 years, and recent MRI studies showed a decrease in the size of FNH lesions, without any evidence of metastasis. Even though no metastatic lesions are noted on imaging, close observation and follow-up imaging studies are required in a child with insulinoma that has malignant potential on histopathologic findings.

Pediatric Mycoplasma pneumoniae Infection Presenting with Acute Cholestatic Hepatitis and Other Extrapulmonary Manifestations in the Absence of Pneumonia

송원재,강빈,이화평,조중범,이해정,최연호 대한소아소화기영양학회 2017 Pediatric gastroenterology, hepatology & nutrition Vol.20 No.2

Mycoplasma pneumoniae infections mainly involve respiratory tract; however, also can manifestate other symptoms by site involved. Extrapulmonary manifestations of M. pneumoniae infection are rarely known to occur without pneumonia. Herein we report a case of a 9-year-old boy who presented with acute cholestatic hepatitis in the absence of pneumonia. Rhabdomyolysis, skin rash, and initial laboratory results suspicious of disseminated intravascular coagulopathy were also observed in this patient. M. pneumoniae infection was identified by a 4-fold increase in immunoglobulin G antibodies to M. pneumoniae between acute and convalescent sera by enzyme-linked immunosorbent assay. This is the first pediatric case in Korea of M. pneumoniae infection presenting with acute cholestatic hepatitis in the absence of pneumonia.