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KMID : 0361720150260010083
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Korean Journal of perinatology
2015 Volume.26 No. 1 p.83 ~ p.85
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A Case of Galloway-Mowat Syndrome with Classic Clinical Triad in the Neonatal Period
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Park Kyung-Hee
Lim Ryoung-Kyoung
Kim Ah-Young
Kim Seong-Heon
Son Seung-Kook
Lee Yun-Jin
Byun Shin-Yun
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Abstract
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Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder comprising of early-onset nephrotic syndrome and central nervous system involvement including microcephaly, seizure and developmental delay. Although hiatal hernia is no longer considered essential findings for diagnosis, clinical triad of GMS included nephrotic syndrome, neurological manifestations, and hiatal hernia in the original description. We experienced a case of newborn with GMS presenting these clinical triad in neonatal period. A male infant weighing 2,250 g was born at gestational week 39+3 by cesarean section. The patient revealed mild dysmorphic facial features and microcephaly. On day 7, Nissen fundoplication was done because of hiatal hernia with gastric volvulus. At the age of 2 weeks he developed nephrotic syndrome with proteinuria and hypoalubuminemia. This is the first case of GMS that three classic findings were present in neonatal period in Korea.
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KEYWORD
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Galloway-Mowat syndrome, Nephrotic syndrome, Newborn
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