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증례 : 내분비-대사 ; 제1형 신경섬유종증 가족에서 발견된 NF1 유전자 변이와 임상양상
정연정 ( Yeon Jeong Jeong ),서유림 ( Yoo Rim Seo ),최규은 ( Kyu Eun Choi ),한유민 ( Yu Min Han ),김은숙 ( Eun Sook Kim ),문성대 ( Sung Dae Moon ),한제호 ( Je Ho Han ) 대한내과학회 2016 대한내과학회지 Vol.90 No.5
With an incidence of 1 per 2,500-3,000 individuals, neurofibromatosis type 1 (NF1) is the most common autosomal dominant disorder in humans. NF1 is caused by germline mutations of the NF1 gene, but to date genotype-phenotype analyses have indicated no clear relationship between specific gene mutations and the clinical features of this disease, even among family members with the same mutation. The present study describes a case of two siblings with NF1 with the same genetic mutation but different clinical manifestations. The first patient was a female with iris Lisch nodules, an adrenal incidentaloma, Graves’ disease, and skin manifestations, while the second patient, the first patient’s younger brother, exhibited only skin neurofibromas and freckling. Further study is needed to reveal the molecular processes underlying gene expression and phenotypes. A better understanding of the genetics associated with NF1 will allow clinicians to detect complications earlier and provide better genetic counseling to NF1 families. (Korean J Med 2016;90:455-459)
대장 내시경 이후 비장손상 없이 발생한 자발성 복강 내 출혈 1예
권아미 ( A Mi Kwon ),김창욱 ( Chang Wook Kim ),이경은 ( Kyoung Eun Lee ),김연지 ( Yeon Ji Kim ),박하늘 ( Ha Neul Park ),서유림 ( Yoo Rim Seo ),이창돈 ( Chang Don Lee ) 대한내과학회 2013 대한내과학회지 Vol.85 No.2
대장 내시경에 의한 복강 내 출혈은 매우 드물지만 빠른 진단과 처치가 필요한 중한 합병증이다. 저자들은 검진 목적으로 대장 내시경을 시행받은 57세 남자에서 대장 내시경 이후 비장손상 없이 자발성 복강 내 출혈이 발생하였고 이후 수술적 처치 없이 호전된 증례를 경험하여 문헌고찰과 함께 보고한다. Colonoscopy is a widely used diagnostic and therapeutic intervention with an excellent safety profile. Although an intraperitoneal hemorrhage is a rare complication after colonoscopy, and usually associated with splenic injury or solid organ pathology, it is potentially serious and can be life-threatening. We report a rare case of spontaneous intraperitoneal hemorrhage after diagnostic colonoscopy without splenic injury or intra-abdominal abnormality, known as idiopathic spontaneous intraperitoneal hemorrhage. This case emphasizes that physicians should be aware of the emergence of acute abdomen after colonoscopy. (Korean J Med 2013;85:178-182)