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저혈당성 경련으로 내원한 환자에서 진단된 Silver-Russell 증후군 1례
이정용(Jung Yong Lee)ㆍ김영아(Young A Kim)ㆍ이경연(Kyung Yeon Lee)ㆍ오기원(Ki Won Oh)ㆍ김자형(Ja Hyeong Kim)ㆍ김준성(Joon Sung Kim)ㆍ정진영(Jin Young Jeong)ㆍ박상규(Sang Kyu Park) 대한소아신경학회 2010 대한소아신경학회지 Vol.18 No.1
저자들은 저혈당성 경련을 주소로 내원한 4세 여아에서 자궁 내 성장 지연, 출생 후 지속되는 저신장과 저체중, 몸에 비해 상대적으로 큰 머리, 신체의좌우 비대칭, 특징적인 얼굴 모양을 보인 Silver-Russell 증후군 1례를 경험하였기에 문헌 고찰과함께 보고하는 바이다. The Silver-Russell syndrome(SRS) is a clinically heterogeneous syndrome characterized by intrauterine and postnatal growth retardation with spared cranial growth, characteristic facial features, and body asymmetry. Although mild to moderate hypoglycemic symptoms occasionally appear in children with SRS especially those who are not fed frequently and regularly, hypoglycemic seizures rarely occur. We report a rare case of SRS which was diagnosed in a 4-year-old female who admitted with hypoglycemic seizure. The patient showed the haracteristic features of SRS. Endocrinologic studies were normal except for partial growth hormone insufficiency. To prevent seizures and chronic neurologic deficits in children with SRS, the early recognition and appropriate management of hypoglycemia is critical.