Korean J Perinatol.  2015 Mar;26(1):82-85. 10.14734/kjp.2015.26.1.82.

A Case of Galloway-Mowat Syndrome with Classic Clinical Triad in the Neonatal Period

• Park KH
• Lim RK
• Kim AY
• Kim SH
• Son SK
• Lee YJ
• Byun SY

• KMID: 2072341
• DOI: http://doi.org/10.14734/kjp.2015.26.1.82

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.

Keyword

Galloway-Mowat syndrome; Nephrotic syndrome; Newborn

MeSH Terms

Central Nervous System
Cesarean Section
Diagnosis
Female
Fundoplication
Hernia, Hiatal
Humans
Infant
Infant, Newborn
Korea
Male
Microcephaly
Nephrotic Syndrome
Neurologic Manifestations
Pregnancy
Proteinuria
Seizures
Stomach Volvulus