• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Pediatric Infection and Vaccine
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• v.7 no.1
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• pp.152-158
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• 2000

Purpose : Kawasaki disease is an acute illness of unknown cause that affects infants and children. Sometimes, cervical lymphadenitis that seems to be caused by bacterial or viral agents at admission would be changed to Kawasaki disease within several days of hospitalization. Lymphadenopathy is one of major presenting manifestation of both cervical lymphadenitis and Kawasaki disease. We compared Kawasaki disease with cervical lymphadenopathy as the initial manifestation with cervical lymphadenitis without other typical manifestations of Kawasaki disease. Methods : We describe and compare the clinical characteristics of 15 patients with Kawasaki disease which were misdiagnosed as cervical lymphadenitis and 125 patients with cervical lymphadenitis, retrospectively. Results : The clinical characteristics of Kawasaki disease with cervical lymphadenopathy as an initial presenting manifestation were older in age and had more frequent abnormalities in markers of systemic inflammation than kawasaki disease without cervical lymphadenopathy. They would have greater abnormalities in markers of inflammation than cervical lymphadenitis alone. They had higher mean WBC, cESR, CRP which were compared with the patients with cervical lymphadenitis. Usually, patients with cervical lymphadenitis responded to antibiotics promptly, but they did not tend to be responded to antibiotics within 48~72hrs. Conclusion : Patients with Kawasaki disease may initially present with findings that strongly suggest bacterial lymphadenitis with or without other manifestations of Kawasaki disease. If they did not response initial antibiotics administration, they should be closed observed for the possible development of the another signs of Kawasaki disease. Earlier diagnosis of Kawasaki disease can avoid the need for unnecessary procedures and antibiotics and lead to more proper therapy directed at Kawasaki disease.

• Tuberculosis and Respiratory Diseases
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• v.42 no.5
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• pp.677-684
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• 1995

Background: Broncholithiasis is uncommon but clinically important because it may cause a variety of nonspecific symptoms and signs prior to the onset of lithoptysis, and rarely massive hemoptysis. Method: A retrospective clinical study was done on 11 case of broncholithiasis diagnosed at Kyungpook National University Hospital from Jan. 1985 to Dec. 1993. The study investigated the clinical features, radiologic findings, bronchoscopic findings and management. Results: 1) The common symptoms included cough, dyspnea, hemoptysis, fever and purulent sputum. Lithoptysis occurred in 3 patients. 2) The radiologic findings were variable and nonspecific. Hilar calcification and parenchymal calcification were the most common findings. 3) The bronchoscopy was performed in 10 patients and revealed broncholiths in 9 patients. 4) Chemical composition of broncholiths was analyzed in 2 patients. Calcium carbonate was main component. 5) In 6 out of 9 patients in whom broncholiths was revealed by bronchoscopy, broncholiths were successfully extracted through the flexible bronchoscope. 6) In 9 patients, broncholithiasis was related to tuberculosis and in 1 case, related to silicosis. Conclusion: Broncholithiasis shows a variable clinical spectrum. Tuberculosis is the most common cause of broncholithiasis. In the case of no accompanied complication, nonsurgical management such as bronchoscopic removal and conservative therapy is an effective measure.

• Journal of Veterinary Clinics
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• v.24 no.2
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• pp.82-87
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• 2007

Five dogs with renal failure were referred to the Veterinary Medical Teaching Hospital at Kangwon National University. These dogs had the common history of consumption of Pedigree dry dog food produced in Thailand plant for over 1 month. The dogs showed anorexia, emaciation, vomiting, and polydipsia/polyuria. And in one severely affected dog, bloody diarrhea and hypothermia were seen. The remarkable clinicopathological signs were high value of BUN and creatinine. In some dogs, GGT, phosphorus and lipase were increased. However, no significant changes of complete blood count were found. In urinalysis, hematuria, low specific gravity urine, proteinuria, and calcium oxalate-like crystals were observed. Two severely affected dogs were died. The remained dogs were recovered gradually after change of dog food and supportive therapy. Pathological findings were seen typically in kidneys. Renal atrophy, congestion of the glomerular capillary, and diffuse degeneration, necrosis, dystrophic calcification and regeneration in the tubular epithelium were seen. Yellowish brown fluorolucent laminated materials or particles were quite often found in the lumina of the necrotizing renal tubules of cortex and medulla. Proliferation of fibrous tissue in the interstitium was also seen. By the mycotoxin analysis of the Pedigree dry dog food, ochratoxin A (OTA) and citrinin were detected as much as the concentration of 372.8 ppb and 8.3 ppb, respectively. The final diagnosis of renal failure caused by OTA and citrinin toxicosis was made on the basis of history takings, clinical signs, clinicopathological and pathological findings, and analysis of mycotoxins.

• Journal of the Korean Society of Radiology
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• v.84 no.6
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• pp.1266-1289
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• 2023

Malignant lymphoma typically presents with homogeneous enhancement of enlarged lymph nodes without internal necrotic or cystic changes on multiphasic CT, which can be suspected without invasive diagnostic methods. However, some subtypes of malignant lymphoma show atypical imaging features, which makes diagnosis challenging for radiologists. Moreover, there are several lymphoma-mimicking diseases in current clinical practice, including leukemia, viral infections in immunocompromised patients, and primary or metastatic cancer. The ability of diagnostic processes to distinguish malignant lymphoma from mimicking diseases is necessary to establish effective management strategies for initial radiological examinations. Therefore, this study aimed to discuss the typical and atypical imaging features of malignant lymphoma as well as mimicking diseases and discuss important diagnostic clues that can help narrow down the differential diagnosis.

• Proceedings of the KACD Conference
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• 2002.05a
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• pp.340-341
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• 2002

근관치료 후 성패는 근관치료 직후의 방사선 사진에서 보이는 근관충전의 양상으로 판단 될 수 없다. 근관치료의 성공을 위해서는 근관치료 직후의 방사선 소견과 주기적인 환자의 관찰을 통한 방사선 소견을 비교 평가하여 치근단 병소의 소실과 더불어 불편한 임상증상이 소실되었을 때 비로소 근관치료의 성공이라고 볼 수 있다.

• Journal of Chest Surgery
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• v.34 no.2
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• pp.125-132
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• 2001

배경 및 목적: Stand A형 급성대동맥박리증의 박리 시발점이 수술치환부위 내에 있는 경우와 그렇지 않은 경우의 임상적 차이점을 분석하여 치료에 도움을 주고자 하였다. 방법: 1991년 3월부터 1999년 7월까지 본원에서 급성상행대동맥박리증으로 진단되어 상행대동맥치환술을 받은 40명의 환자를 대상으로 병력기록을 근거로 수술 소견 상 찢어진 부위를 발견한 환자 27명을 1군, 발견 못한 나머지 13명을 2군으로 나누고 환자의 술 전 상태와 수술소견 및 술후 경과의 임상적 차이점을 분석하였다. 결과: 1군에서 술전에 저혈압, 대동맥판막부전, 심허혈, 신부전 등이 더 많이 발생되었다. 수술 소견 상 대동맥근부 이상은 1군에서 많았다. 가성 내강 내 혈종은 2군에서 더 많이 관찰되었지만 통계적으로 유의하지는 않았다. 술후에 2군에서는 신부전이 더 많이 발생하였고 술후 출혈로 인한 재수술은 1군에서 더 많았다. 조기 수술사망은 1군에 6명으로 사망률은 22.2%이었고 2군에는 사망 례는 없었다. 결론: 본 연구를 통하여 상행대동맥에서 내막 파열이 발견된 1군에서는 2군에 비해 술전 상태가 불량하였고 대동맥판막 병변으로 수술이 복잡해져 사망률이 높다고 생각된다. 반면 원위부 하행대동맥에서 박리가 진행되어 상행대동맥으로 이어진 2군에서는 1군에 비해 순환 장애로 인해 술후에 신부전이 더 많이 발생되었다. 결론적으로 상행대동맥내막에 파열점이 없었던 군에서 수술 예후는 상행대동맥내막에 파열점이 있는 군보다 더 좋았다.

• Journal of Veterinary Clinics
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• v.29 no.4
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• pp.356-359
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• 2012

An eight-year-old, spayed female Shih-tzu, weighing 3.2 kg with a history of chronic intermittent vomiting and unknown pain for four months was referred. In ultrasonography, a small round hypoechoic mass was identified in the gastric wall. Gastric endoscopy showed a solitary raised mass with smooth surface in the pyloric antrum. Surgical resection was performed. Histopathologic findings with immunohistochemical studies showed extramedullary plasmacytoma in the gastric submucosal and muscle wall layer. The patient recovered normally without any complications. The tumor has not been re-occurred after surgical removal, to date.

• Pediatric Infection and Vaccine
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• v.20 no.1
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• pp.28-35
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• 2013

Purpose : The aim of this study was to determine the frequency, epidemiology and the clinical manifestation of human metapneumovirus (hMPV) infection in Korean children. Methods : From February 2010 to January 2012, we collected nasopharyngeal aspiration from 1,554 children who were hospitalized for acute lower respiratory tract infections at the Department of Pediatrics, Severance Children's Hospital. hMPV was detected by performing reverse transcriptase-polymerase chain reaction (RT-PCR). The medical records of the patients with positive results were retrospectively reviewed. Results : We detected hMPV in 99 of the 1,554 hospitalized children. The mean age of the hMPV infected children was 25 months, and 87% of the illnesses occurred between April and June. The most common diagnoses were pneumonia (73%) and bronchiolitis (16%). The clinical manifestations included cough, fever, respiratory distress, hoarseness, tachypnea, and wheezing. Coinfection with other respiratory viruses was found in 43 children (43%). Conclusion : hMPV is one of the major virus causing acute respiratory tract infection in the age between 13 months and 48 months old with peaks during April to June. Reports of hMPV in Korea has been increasing but additional studies are required to define the epidemiology and the extent of disease caused by hMPV to determine future development of this illness in Korean children.

• Journal of the Korean Society of Radiology
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• v.82 no.1
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• pp.139-151
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• 2021

Purpose To retrospectively evaluate the chest computed tomography (CT) findings of coronavirus disease 2019 (COVID-19) in patients with mild clinical symptoms at a single hospital in South Korea. Materials and Methods CT scans of 87 COVID-19 patients [43 men and 44 women; median age: 41 years (interquartile range: 26.1-51.0 years)] with mild clinical symptoms (fever < 38℃ and no dyspnea) were evaluated. Results CT findings were normal in 39 (44.8%) and abnormal in 48 (55.2%) patients. Among the 48 patients with lung opacities, 17 (35.4%) had unilateral disease and 31 (64.6%) had bilateral disease. One (2.1%) patient showed subpleural distribution, 9 (18.8%) showed peribronchovascular distribution, and 38 (79.2%) showed subpleural and peribronchovascular distributions. Twenty-two (45.8%) patients had pure ground-glass opacities (GGOs) with no consolidation, 17 (35.4%) had mixed opacities dominated by GGOs, and 9 (18.8%) had mixed opacities dominated by consolidation. No patients demonstrated consolidation without GGOs. Conclusion The most common CT finding of COVID-19 in patients with mild clinical symptoms was bilateral multiple GGO-dominant lesions with subpleural and peribronchovascular distribution and lower lung predilection. The initial chest CT of almost half of COVID-19 patients with mild clinical symptoms showed no lung parenchymal lesions. Compared to relatively severe cases, mild cases were more likely to manifest as unilateral disease with pure GGOs or GGO-dominant mixed opacities and less likely to show air bronchogram.