• Archives of Plastic Surgery
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• 제38권1호
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• pp.77-80
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• 2011

Purpose: We report a patient with DiGeorge syndrome who was later diagnosed as mild metopic synostosis and received anterior 2/3 calvarial remodeling. Methods: A 16-month-old boy, who underwent palatoplasty for cleft palate at Chungnam National University Hospital when he was 12 months old of age, visited St. Mary's Hospital for known DiGeorge syndrome with craniosynostosis. He had growth retardation and was also diagnosed with hydronephrosis and thymic agenesis. His chromosomal study showed microdeletion of 22q11.2. On physical examination, there were parieto-occipital protrusion and bifrontotemporal narrowing. The facial bone computed tomography showed premature closure of metopic suture, orbital harlequin sign and decreased anterior cranial volume. The interorbital distance was decreased (17 mm) and the cephalic index was 93%. Results: After the correction of metopic synostosis by anterior 2/3 calvarial remodeling, the anterior cranial volume expanded with increased interorbital distance and decreased cephalic index. Fever and pancytopenia were noted at 1 month after the operation, and he was diagnosed as hemophagocytic lymphohistiocytosis by bone marrow study. He however, recovered after pediatric treatment. There was no other complication during the 12 month follow up period. Conclusion: This case presents with a rare combination of DiGeorge syndrome and metopic synostosis. When a child is diagnosed with DiGeorge syndrome soon after the birth, clinicians should keep in mind the possibility of an accompanying craniosynostosis. Other possible comorbidities should also be evaluated before the correction of craniosynostosis in patients as DiGeorge syndrome. In addition, postoperative management requires a thorough follow up by a multidisciplinary team of plastic surgeons, neurosurgeons, ophthalmologists and pediatricians.

• Clinical and Experimental Pediatrics
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• 제46권1호
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• pp.86-90
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• 2003

Alagille 증후군은 간내 담도 형성 부전으로 인한 만성 담즙 정체, 말초 폐동맥 협착, 골격 이상, 눈의 이상, 특징적인 얼굴 모양 등을 주요 증상으로 하는 상염색체 우성 유전 질환으로 말초 폐동맥 협착 이외에도 여러 말초 혈관 병변들이 동반된다. 관련된 유전자로 20번 염색체 위에 존재하는 JAG1이 발견되었고, 이 유전자의 결손으로 인한 Notch 신호전달체계의 결함이 혈관형성에 영향을 미친다고 생각되고 있다. Alagille 증후군에서 만성 뇌동맥 폐색질환인 moyamoya병이 발생한 예들이 보고된 바 있는데, Alagille 증후군의 혈관병증의 또 다른 한 발현으로 이해되어야 할 것이다. 저자들은 생후 2개월에 Alagille 증후군을 진단받고 추적 관찰 중에 갑자기 편측 마비가 발생하여 뇌혈관 조영술을 통해 moyamoya병을 진단받은 25개월 여아를 경험하였기에 이를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제57권10호
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• pp.457-460
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• 2014

A flaccid tetraparesis in Bickerstaff's brainstem encephalitis (BBE) is presumed to be a sign of overlapping Guillain-Barr$\acute{e}$ syndrome (GBS). In addition, BBE and Fisher syndrome, which are clinically similar and are both associated with the presence of the immunoglobulin G anti-GQ1b antibody, represent a specific autoimmune disease with a wide spectrum of symptoms that include ophthalmoplegia and ataxia. A 2-year-old boy presented with rapidly progressive ophthalmoplegia, ataxia, hyporeflexia, weakness of the lower extremities, and, subsequently, disturbance of consciousness. He experienced bronchitis with watery diarrhea and had laboratory evidence of recent infection with Epstein-Barr virus (EBV). He was diagnosed as having overlapping GBS and BBE associated with EBV and received treatment with a combination of immunoglobulin and methylprednisolone, as well as acyclovir, and had recovered completely after 3 months. In addition, he has not experienced any relapse over the past year. We suggest that combinations of symptoms and signs of central lesions (disturbance of consciousness) and peripheral lesions (ophthalmoplegia, facial weakness, limb weakness, and areflexia) are supportive of a diagnosis of overlapping GBS and BBE and can be helpful in achieving an early diagnosis, as well as for the administration of appropriate treatments.

• 대한한방내과학회지
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• 제41권5호
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• pp.868-876
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• 2020

The purpose of this study was to report the clinical effects of Korean medicine on a patient who suffered from Early Dumping Syndrome with diarrhea, abdominal pain, anorexia, and insomnia after gastrectomy. The patient was treated with herbal medicine, acupuncture and moxibustion use in combination with Western medicine for 4 weeks. Though anorexia was maintained at a similar level, other clinical symptoms (diarrhea, abdominal pain, and insomnia) were improved after Korean medicine treatment. Therefore, Korean medicine may be effective for treatment of Early Dumping Syndrome after gastrectomy.

• 대한한방내과학회지
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• 제41권5호
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• pp.877-884
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• 2020

The purpose of this study was to report the clinical effects of Korean medicine on a patient who suffered from Irritable Bowel Syndrome with diarrhea, abdominal pain, and anorexia for few months. The patient was treated with herbal medicine, acupuncture, and moxibustion in combination with Western medicine for 7 weeks. The clinical symptoms (diarrhea, abdominal pain, and anorexia) were improved after Korean medicine treatment. Therefore, this case is useful for describing Korean medicine treatment for Irritable Bowel Syndrome, and further case reports and studies will be needed in the future.

• Childhood Kidney Diseases
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• 제6권2호
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• pp.237-242
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• 2002

용혈성 요독 증후군은 용혈성 빈혈, 혈소판 감소증, 급성신부전의 임상양상을 보이는 질환으로서 전형적인 경우 EHEC에 의해 유발되며, 설사(특히 혈변) 등의 전구증상과 연관된다. 비전형적으로 드물게 폐구균 감염으로도 유발되며, 이 경우 매우 불량한 예후를 보이는 것으로 알려져 있고, 아직 국내엔 폐구균 감염과 연관된 HUS에 대해 보고된 바가 없다. 저자들은 폐구균 감염이 진단된 후 급격히 심한 비전형적 용혈성 요독 증후군이 진행되었으나 성공적으로 치료한 1례를 경험하였기에 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제10권1호
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• pp.91-97
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• 2007

저자들은 4세에 진단된 자가면역간염과 궤양성 대장염 그리고 6세에 진단된 원발성 경화담관염을 가진 중 복증후군 환아에서 9세에 만성 림프형질세포성 골수염이 발병한 뒤 면역억제 치료에 잘 반응하지 않는 증례를 경험하였기에 보고하는 바이다.

• The Korean Journal of Pain
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• 제8권1호
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• pp.164-167
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• 1995

대상포진후 신경통으로 체성신경 차단과 함께 성상신경절 차단을 반복적으로 받아오던 64세 여자환자에서 열세번째 우측 성상신경절 차단후 반대측인 좌측에 호너씨 증후군이 발생되었다. 그 원인은 명확하지 않지만 시술 도중 환자머리의 좌측회전으로 인한 해부학적 위치변화와 술자의 부정확한 지표선정 및 주사바늘의 안쪽방향등으로 약제가 중앙선을 넘어 주입된 것으로 추정할수 있다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권4호
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• pp.273-278
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• 2013

We present a case of a 7-year-old boy who had cholestasis after trimethoprim-sulfamethoxazole combination therapy. Liver biopsy was performed 36 days after the onset of jaundice because of no evidence of improving cholestasis. Liver histology revealed portal inflammation, bile plug, and biliary stasis around the central vein with the loss of the interlobular bile ducts. Immunohistochemical stains for cytokeratin 7 and 19 were negative. These findings were consistent with those of vanishing bile duct syndrome (VBDS). Chlestasis was progressively improved with dose increment of urosodeoxycholic acid from conventional to high dose. This is the first case report of trimethoprime-sulfamethoxazole associated VBDS in Korean children. The case suggests that differential diagnosis of VBDS should be considered in case of progressive cholestatic hepatitis with elevation of alkaline phosphatase and gamma-glutamyl transpeptidase after or during taking medicine to treat nonhepatobiliary diseases illness.

• 약학회지
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• 제59권6호
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• pp.245-250
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• 2015

Middle East respiratory syndrome - coronavirus infection has posed substantial threat to public health with extremely high mortality rate in 2015. Although there are no approved novel medications for coronavirus, several antiviral agents such as ribavirin and interferon have been tried to MERS patients according to the in-vitro inhibitory effect, therapeutic effect on the animal model and experience from the severe acute respiratory syndrome - coronavirus infection. The aim of this study is to evaluate the clinical evidence of the antiviral treatment for MERS-CoV infection. After systematically searching the medical literature databases, I found five studies described the clinical efficacy of antiviral treatment on MERS patients. All of them were about the combination therapy of ribavirin and interferon (IFN). Two of them were retrospective cohort studies with quality of evidence (QOE) II and the others were observational study and case reports with QOE III. As a result of critical appraisal, it is concluded that none of those studies represented confirmatory clinical evidence of the efficacy of ribavirin and interferon combination therapy on MERS patients. Although Omrani et al. represented that ribavirin and IFN treatment had significantly improved survival at 14 days, it was not enough time to conclude the effect.