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Journal of the Korean Society of Pediatric Nephrology 2003;7(2): 197-203.
소두증을 동반한 조기 발현 신증후군 1례 : Galloway-Mowat 증후군
유병원, 조성민, 기정혜, 정희정, 김기혁
1연세대학교 의과대학 소아과학교실
2동국대학교 의과대학 소아과학교실
3국민건강보험공단 일산병원 병리과
4국민건강보험공단 일산병원 소아과
5국민건강보험공단 일산병원 소아과
A Case of Microcephaly and Early-onset Nephrotic Syndrome : Galloway-Mowat Syndrome
Byung-Won Yoo, Sung-Min Cho, Jeong-Hae Kie, Hee-Jung Jung, Kee-Hyuck Kim
1Department of Pediatrics, Yonsei University, College of Medicine
2Department of Pediatrics, Dongguk University, College of Medicine
3Departments of Pathology, NHIC Ilsan Hospital
4Departments of Pediatrics, NHIC Ilsan Hospital
5Departments of Pediatrics, NHIC Ilsan Hospital
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ABSTRACT
The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with various neurological abnormalities and early onset of nephrotic syndrome with unresponsiveness to treatment, progressive deterioration in renal function and death in early lifetime. In this report, we describe a girl with microcephaly, seizures. and psychomotor retardation who developed nephrotic syndrome at 17 months of age.
Key words: Microcephaly | Nephrotic syndrome | Galloway-Mowat syndrome
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