Journal List > Korean J Perinatol > v.26(1) > 1013787

Park, Lim, Kim, Kim, Son, Lee, and Byun: A Case of Galloway-Mowat Syndrome with Classic Clinical Triad in the Neonatal Period

Abstract

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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Fig. 1.
Upper gastrointestinal series show esophagogastric junction above diaphragm and folded stomach with anteriorly high located duodenal bulb.
kjp-26-82f1.tif
Fig. 2.
Hematoxylin and eosin stained section showing high power view of glomeruli with increased and hypercellular mesangium (A, X100) and segmental lobular collapse and sclerosis (B, X200).
kjp-26-82f2.tif
Fig. 3.
Magnetic resonance image of brain T1 weighted axial images showing thickened and flattened cortical gyri predominantly involves bilateral frontal and parietal region.
kjp-26-82f3.tif
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