간아세포종 환아의 임상적 특성과 예후

김민영,김대연,안효섭,김종재,김인원,정성은,이성철,박귀원,김우기,Kim, Min-Young,Kim, Dae-Yeon,Ahn, Hyo-Seep,Kim, Chong-Jai,Kim, In-One,Jung, Sung-Eun,Lee, Seong-Cheol,Park, Kwi-Won,Kim, Woo-Ki 대한소아외과학회 1997 소아외과 Vol.3 No.2

Hepatoblastoma is a rare pediatric malignancy which frequently presents at an advanced un resectable stage. With the neoadjuvant chemotherapy, improved resectability and survival have been reported. Twenty children with biopsy proven hepatoblastoma were treated during the period between January 1987 and June 1995. Median age at diagnosis was 13 months(2 months to 7 year and 10 months), and 13 were male. Histologic profile was 13 epithelial(5 fetal, 4 mixed, 1 embryonal, 3 undetermined), and 5 mixed mesenchymal and epithelial and 2 of undetermined type. Chemotherapy effectively reduced the tumor volume($p$=0.008), and was able to convert 7 out of 9 initially unresectable cases(78%) to resectable ones. Twelve radical and 2 palliative operations were done with or without adjuvant chemotherapy. The Median follow up period was 33 months and the median survival was 26 months. The group with curative resection had a 61.1% 5 year survival rate, but none of palliative resection group survived more than 13 months($p$=0.0001). In univariate analysis for prognostic factors revealed, large tumor size at diagnosis and abscence of thrombocytopenia were associated with poor survival, but these differences were not statistically significant. Histological pure fetal type did not mean a better prognosis. Even with a recent neoadjuvant chemotherapy, the strategy should be focused on the radical resection as early as possible.

Metachromatic leukodystrophy의 임상 양상

김영준(Young Jun Kim),채규영(Kyu Young Chae),최지은(Ji Eun Choi),김기중(Ki Joong Kim),황용승(Yong Seung Hwang),김인원(In-One Kim) 대한소아신경학회 1995 대한소아신경학회지 Vol.3 No.1

연구배경 : 이염성 백질이영양증(metachromatic leukodystrophy,MLD)은 arylsulfatase A의 결핍으로 이염성 물질인 sulfatide가 신경계 및 다른 여러 조직내에 축적되는 상염색체 열성 대사장애 질환이다. 국내에서는 증례 보고만 몇 차례 되었으므로 저자들은 임상 양상을 정리하여 향후 다른 뇌백질 질환들과의 감별 및 예후 예측에 도움이되고자 하였다. 방 법 : 1988년 5월부터 1995년 8월까지 서울대학교 어린이병원 소아과에서 MLD로 진단받았던 8명(남아 3례, 여아 5례)의 환아들을 대상으로 임상 양상 및 질병의 경과, 검사 소견 그리고 방사선학적 소견등을 조사라였다. 결 과 : 발병 연령은 8개월에서 2년 4개월 이었다. 초발 증상은 운동발달의 정지 혹은 퇴행이 7례에서 있었고, 보행장애가 5례, 구음 장애가 2례, 발작이 1례에서 있었다. 강직성 근긴장도는 6례에서 있었고, 심부 건반사는 5례에서 증가되어 있었다. 8례 모두에서 소변의 ASA 활성도가 감소되어 있었고, 소변의 metachromatic granule 검사는 3명에서 시행하여 2례에서 양성반응을 보였다. 뇌척수액 검사는 4명에서 시행하여 이중 1례에서 단백의 증가가 있었다. 3명에서 실시한 신경전달속도 검사상 모두 신경전달속도가 감소되어 있었다. 담낭의 초음파 검사상 7명중 4례에서 담낭벽의 비후를 보였고, 뇌 자기공명영상상 8례 모두에서 T2가중영상에서 뇌실과 반난형 중추 주위의 백질에 비정상적으로 신호가 증가되어 있었다. 결 론 : MLD는 발달장애 혹은 보행장애 등을 주소로 하는 뇌백질 질환으로, 다른 뇌백질 질환이나 대사성 질환과의 감별이 요구된다. 상기 증상과 함께 뇌 자기공명영상상 뇌백질 침범 소견이 보이는 경우는 소변내 ASA활성도 측정을 통한 MLD의 감별 진단이 필요하리라 생각다. Background : Metachromatic leukodystorphy(MLD) is an autosomal recessive inherited neurological disorder chracterized by progressive demyelination of the central and peripheral nervous system and sulfatide accumulation in different tissues. We reviewed the clinical, biochemical and radiological chracteristics of the patients with metachromatic leukodystorphy Method : We retrospectively reviewed the medical records of 8 cases of metachromatic leukodystorphy, admitted at the Department of Pediatrics of Seoul National University, Children's Hospital from May, 1998 to August, 1995. Results : 1) the range of age on onset was from 8 month to 2 year 4 month(mean age 13.6 month). 2) Regression of motor development was the most common intial manifestation, followed by gait disturbance and speech disturbance. 3) On neurologic examination, 6 cases showed spasticity and 5 cases showed increased deep tendon reflex. 4) Twenty-four hour urine arylsulfatase A activity was decresed in the all cases. Urinary metachromatic granule was positive in 2 of the 3 cases. 5) Cerebrospinal fluid protein level was incresed in 1 of the 4 cases. 6) Nerve conduction velocity was delayed in all of the cases. 7) All showed high signal intensity of periventricular white matter on T2 weighted MR image. Conclusion : MLD is an inherited neurological disorder chracterized by progressive developmental delay, which is diffilcult to be differentiated to other white matter disease of metabolic disease. The patient with developmetal delay and abnormal high signal intensity on the T2 weighted MRI imaging should be tested for urinary ASA activity.

Currarino Triad

최광해,정주영,배선환,고재성,김우선,김인원,서정기,Choi, Kwang-Hae,Chung, Ju-Young,Bae, Sun-Hwan,Ko, Jae-Sung,Kim, Woo-Sun,Kim, In-One,Seo, Jeong-Kee 대한소아소화기영양학회 1999 Pediatric gastroenterology, hepatology & nutrition Vol.2 No.1

Currarino triad is a hereditary condition diagnosed when three abnormalities are noted: (1) an anorectal malformation; (2) an anterior sacral defect and (3) a presacral mass. We experienced 3 cases of Currarino triad with severe constipation. All cases had presacral mass and sacral bony defect. One case had rectovaginal fistula, other one case had holoprosencephaly. Presacral masses were lipomeningomyelocele and epidermoid or dermoid cyst. We report three cases of Currarino triad with brief review of the related literature.

급성 파종성 뇌척수염(acute disseminated encephalomyelitis)의 임상양상 및 뇌자기공명영상의 진단적 의의

조성민(Sung Min Cho),김기중(Ki Joong Kim),황용승(Yong Seong Hwang),이시경(See Kyung Lee),김인원(In-One Kim) 대한소아신경학회 1994 대한소아신경학회지 Vol.2 No.1

(1) 연구 배경: ADEM은 중추신경계의 급성 탈수초성 염증성 질환으로 뇌자기공명영상의 이용으로 진단이 용이해졌다. 향후 본 질환의 진단과 추적에 도움이 되고자 본 연구를 시행하였다. (2) 방법: 1989년 3월부터 1994년 6월까지 서울대학교 어린이병원 소아과에 입원한 ADEM 환아 10명을 대상으로 하였고, 의무 기록을 토대로 임상 양상과 뇌자기공명영상 등의 검사 소견을 조사하였다. (3) 결과: 증상 발현 당시의 연령은 8개월에서 10세였고 남아가 2례, 여아가 8례였다. 선행하는 감염으로는 비특이적 상기도 감염이 6례, 홍역이 1례였고, 예방 접종으로는 일본 뇌염 예방 접종의 병력을 가진 경우가 2례였다. 신경학적 증상의 발현까지의 기간은 1주일에서 4주였으며 1주 이내가 5례, 1주에서 4주 사이가 4례였다. 신경학적 증상은 의식 장애가 5례, 대마비, 경련, 진전과 신경성 방광이 각각 3례, 편마비, 시각 장애, 구음 장애와 두통 등이 각각 2례였고, 그 외 안면 신경 마비, 반향 언어, 망각증 등이 각각 1례였다. 뇌자기공명영상은 전례에서 다발성의 백질을 침범하는 소견을 보였으며, T2 증강영상에서 백질의 고음영으로 나타났다. 대놔 백질의 병변을 보인 경우가 9례로 그 중에는 편층성 비대칭적 병변도 2례 있었으며, 소뇌 백질의 병변을 보인 경우가 4례로 이 중 대칭적 병변이 3례였다. 그 외의 침범 부위로는 뇌간과 내포가 각각 2례, 기저핵, 시상의 병변이 각각 1례였다. Gd-DTPA 조영상 조영 증강을 보인 경우는 2례였다. 뇌자기공명영상의 추적 촬영은 9례에서 시행하였고 8례에서 부분적 또는 완전한 병변의 소실이 관찰되었다. 전례에서 부신 피질 호르몬을 사용하였고, 항경련제를 사용한 경우도 2례 있었다. 2개월에서 3년간의 추적이 가능했던 8명 중 신경학적 증상이 남아있는 경우는 4례로 이들은 편마비와 진전, 경련, 기억과 계산의 장애, 경한 인격 장애를 각각 보였고 점진적 호전을 관찰할 수 있었다. (4) 결론: 종래에 임상 양상만으로는 뇌염과의 감별의 어려웠고 뇌전산화 단충촬영도 도움이 되지 않은 경우가 많았으나 최근 뇌자기공명영상의 이용으로 ADEM의 진단이 용이해졌으며, 그 추적 검사는 다발성 경화증과의 감별과 ADEM의 임상적 추적에도 매우 유용하게 사용될 수 있다. (1) Background. Acute disseminated encephalomyelitis is an acute demyelinating autoimmune inflammatory disease of CNS and develops after infection or vaccination. The diagnosis has been dependent on clinical features or autopsy findings before the use of brain MRI. We performed this study to investigate its clinical features and evaluate the usefulness of brain MRI for its diagnosis and follow-up. (2) Methods. Ten cases(2 males and 8 females) of acute disseminated encephalomyelitis who were diagnosed in the department of pediatrics. Seoul National (3) Results. The age of onset of symptoms was between 8 months and 10 years. The preceding events were nonspecific upper respiratory infection in 6 cases. Japanese B encephalitis vaccination in 2 cases. measles in 1 case. In one case there was no preceding event. The neurologic symptoms were altered consciousness. paraplegia, hemiplegia, seizure, tremor, visual disturbance and voiding difficulty. Brain MRI showed relatively symmetrical, multifocal high signal intensity lesions on T2-weighted image mainly in the cerebral or the cerebellar white matter. the brainstem, internal capsules or less frequently in the basal ganglia. Gd-DTPA enhancing lesions were found in 2 cases. Follow-up brain MRI demonstrated partial to complete resolution of the lesions except one case. All patients were managed on corticosteroid therapy. Of the 8 patients who were followed up for more than 2 months. the residual neurologic symptoms were hemiplegia and tremor in 1 case, seizure in 1 case. personality change in 1 case, disturbance of memory and calculation in 1 case. There were no residual neurologic symptom in 4 case. (4) Conclusion. Brain MRI is useful for the diagnosis and the follow-up clinical course of ADEM.

부신백질이영양증의 임상적, 생화학적 소견 및 뇌자기공명영상 소견

유지숙(Jee Suk Yu),김기중(Ki Joong Kim),고태성(Tae Seong Ko),이백희(Baeck Hee Lee),황세희(Se Hee Hwang),황용승(Yong Seung Hwang),김인원(Kim In One),지제근(Je Geun Chi) 대한소아신경학회 1993 대한소아신경학회지 Vol.1 No.1

Seven cases of adrenoleukodystrophy who were diagnosed in the Department of Pediatrics, Seoul National University Hospital from January 1985 to April 1993 were reviewed. The results were as follows: 1) All of the patients were male and the onset of symptoms was between 5 and 13 years of age. They were all classified as X-liked childhood adrenoleukodystrophy. 2) The initial symptoms were behavior change, visual disturbance, skin pigmentation poor school perfomance and gait disturbance. 3) Skin pigmentation was noticed in 3 cases which showed elevated plasma ACTH level on ACTH stimulation test, the cortisol levels were not stimulated. One case out of 4 cases having no hypoadrenal symptoms showed no response to ACTH stimulation test. 4) Elevated CSF IgG and protein levels were noticed in 4 cases of 7(57%) and 4 cases out of 6(67%), respectively. 5) There is no correlation between the evoked potentials and the subjective visual and auditory disturbance. 6) There is correlation between the involved sites on brain MRI and the clinical manifestations. 7) Brain MRI showed typically bilateral, symmetrical hyperintense areas in the periventricular white matter of parieto-occipital areas in 5 cases out of 7 cases, One case showed frontal lobe involvement only without occipital lobe and another case showed multiple patch involvement in the internal capsules and thalamus. 8) Management was including restriction of saturated VLCFA in diet, steroid therapy, physiotherapy, IV globulin, and Lorenzo oil. Clinical courses were not reversed. In conclusion, we could confirm adrenoleukodystrophy using plasma VLCFA assay without brain biopsy, and earlier diagnostic approach was possible owing to brain MIR.

피질 이형성증을 동반한 제1형 신경섬유종증 1례

이진숙(Jin Sook Lee),김승효(Seung Hyo Kim),김헌민(Hun Min Kim),박수연(Su Yeon Park),이지훈(Ji Hoon Lee),채종희(Jong Hee Chae),김기중(Ki Joong Kim),황용승(Yong Seung Hwang),김인원(In-One Kim) 대한소아신경학회 2005 대한소아신경학회지 Vol.13 No.2

저자들은 발작을 주소로 내원한 3개월 여아에서 제1형 신경섬유종증에 동반된 피질 이형성증을 보인 매우 드문 증례를 경험하였기에 보고하는 바이다. Neurofibromatosis type 1(NF1) is the most common neurocutaneous syndrome which has an autosomal dominant pattern of inheritance. The NF1 gene is located on chromosome 17q11.2 and encodes for neurofibromin known as tumor suppressor protein. The disorder affects almost every organ and shows neurologic manifestations such as tumors, mental retardation and epilepsy. Epilepsy associated with NF1 occurs in about 4% and is known to have relatively good prognosis. Malformations of cortical development are less common in patients with NF1 than in other phakomatoses. To our knowledge, no report on NF1 with cortical dysplasia has been published in Korea. We report a child with NF1 associated with extensive cortical dysplasia, who presented initially infantile spasms and in the following months developed tonic seizures.

골 육종 환자에서 항암제 동맥 주입 효과에 대한 방사선학적 분석: 자기공명영상과 동맥내 디지털감산혈관조영 소견을 중심으로

이구,김인원,연경모,윤현기,안효섭,Lee, Goo,Kim, In-One,Yeon, Kyung-Mo,Yoon, Hyun-Ki,Ahn, Hyo-Seop 대한영상의학회 1991 대한영상의학회지 Vol.27 No.5

For the evaluation of the effect of intraarterial chemotherapy with CDDP(cis-diaminedichloroplatinum) in the treatment of osteogenic sarcoma, we compared radiographic findings of magnetic resonance imaging(MRI) and intraarterial digital subtraction angiography(IA DSA) with the degree of tumor necrosis in pathologic speciments. The decrease in neovascularity and tumor stain in IA DSA showed good correlation with tumor response(necrosis) to IA chemotherapy. MRI was useful in the localization of intra-and extramedullary tumor. and detection of skip metastases, but signal intensity changes showed poor correlation with tumor response to chemotherapy. In gadolinium diethyltriamine pentaacetic acid enhanced MRI(Gd-DTPA MRI), the enhancing areas closely correlated with the areas of tumor stain IA DSA. In conclusion, IA DSA is a good imaging tool and Gd-DTPA MRI is expected to become a more useful modality in the evaluation of tumor response to chemotherapy in osteogenic sarcoma.

위염전증의 방사선학적 소견

한헌,김인원,연경모,Han, Heon,Kim, In-One,Yeon, Kyung-Mo 대한영상의학회 1987 대한영상의학회지 Vol.23 No.6

Gastric volvulus, organoaxial or mesenteroaxial rotation, is an uncommon cause of uper gastrointestinl obstruction in childhood. It may be suspected on plain radiographic examination of the abdomen and confirmed by upper gastrointestinal series. Six affected children are described. Symptoms wer3e mainly acute vomiting and abdominal distension. All patients had defect in perigastric ligaments.

Foley 도간을 이용한 식도이물 제거

한헌,김인원,연경모,Han, Heon,Kim, In-One,Yeon, Kyung-Mo 대한영상의학회 1987 대한영상의학회지 Vol.23 No.4

The fluroscopically controlled foley catheter technique is an easy, safe, and successful method of removal of blunt esophageal foreign bodies such as coins, and avoids the risks of general anesthesia and endoscopy. AAuthors successfully removced four coins and one baduk-stone which obstructed upper esophagusm using Foley cathether technique at Seoul National Univ. Children's Hospital from November 1986 to April 1987.

소아의 신혈관성 고혈압

강병철,하일수,김인원,정해일,최용,고광욱,Kang Byoung-Chul,Ha Il-Soo,Kim In-One,Cheong Hae-Il,Choi Yong,Ko Kwang-Wook 대한소아신장학회 1997 Childhood kidney diseases Vol.1 No.2

목적 : 소아 신혈관성 고혈압의 임상적 특징과 원인질환, 검사 소견 및 치료에 대한 반응 등을 분석하고자 본 연구를 시행하였다. 방법 : 1986년 1월부터 1994년 6월까지 서울대학교 어린이병원 소아과에 입원한 고혈압 환자 중 혈관조영술상 신혈관성 고혈압으로 진단된 16례에 대하여 병록지 검토를 통한 후향적 고찰을 시행하였다. 결과 : 전체 16례중 남녀비는 7:9이었고, 평균 연령은 8년 6개월이었다. 원인질환으로는 Takayasu 동맥염이 6례, Moyamoya병에 동반된 예가 5례, 섬유근성 이형증이 3례, 신경섬유종증에 동반된 예가 1례였으며, 1례에서는 원인 질환을 밝혀낼 수 없었다. 흔한 증상으로는 호홉곤란, 편측마비, 두통, 오심 등이 있었고, 신체검사 소견상 심비대, 간비대, 복부 청진상 잡음 등이 관찰되었다. 말초혈장 renin 활성도는 검사를 시행한 14례에서 모두 상승되어 있었다. 혈관조영술상 16례 중 9례가 양측성, 7례가 일측성 병변을 보였다. Captopril 신스캔은 시행된 전례에서 혈관조영술상의 병변과 일치되는 결과를 보였다. 약물치료만을 시행한 5례 중 2례에서는 혈압의 완전 정상화, 3례에서는 부분적 조절의 반응을 보였다. 경피적 혈관성형술은 10례에서 시도되었으나 5례에서는 실패하였고 성공한 5례 중 3례에서 재협착 또는 동반된 대동맥 협착등으로 다른 형태의 치료가 필요하였다. 수술적 치료는 4례에서 시행되었으며 모두 다른 형태의 치료로 실패한 경우였다. 이 중 3례에서는 혈압 조절에 실패하였고 1례에서는 부분적 조절의 반응을 보였다. 결론 : 소아의 신혈관성 고혈압의 원인 질환은 Takayasu 동맥염뿐 아니라 Moyamoya병, 섬유근성 이형증등 다양하므로 이들간의 감별이 필요하다. 여러 진단적 검사중 단독으로 확진 가능한 검사는 없으며 환자마다 적합한 진단적 검사법을 개별적으로 적용해야 한다. 치료로서 약물요법, 혈관성형술, 수술적 치료 등이 시행되지만 완치율 및 성공률은 아직 만족스럽지 못하다. Purpose : The clinical characteristics of renovascular hypertension (RVHT) in children were analyzed. Methods : Medical records of 16 children diagnosed as RVHT on the basis of angiography during Jan. '86 to Jun. 94 in our hospital were reviewed retrospectively. Results : The mean age at the onset was 8.5 yrs and the sex ratio(M:F) was 7:9. The causes of RVHT were Takayasu arteritis in 6, Moyamoya disease in 5, and fibromuscular dysplasia in 3 patients. Abdominal bruit was noted in 6 patients (38%). Peripheral renin activity was raised in all tested patients. Bilateral renal arterial involvemnent was found in 9 patients (56%). Captopril renal scans showed good correlation with angiographic findings. Five patients were treated with antihypertensives only, and blood pressure was controlled completely in 2 and incompletely in 3. Percutaneous transluminal angioplasty was performed in 10 patients with 50% of success rate. However, hypertension was recurred due to restenosis or accompaning aortic stenosis in 3 patients. Surgical treatment was performed in 4 patients, and the blood pressure was controlled partially in 1 and poorly in the remaining 3. Conclusions : Takayasu arteritis, Moyamoya disease and fibromuscular dysplasia are the major causes of childhood RVHT in our country. The diagnosis of RVHT in children should be based on a set of tests individually selected for case by case. For the low curability of the current treatment modalities available, RVHT in children should not be regarded as 'curable' so far. We expect, however, that the outcome will be improved by more extensive application of the newly developed surgical technique.