All issues > Volume 44(9); 2001

Case Report

J Korean Pediatr Soc. 2001;44(9):1081-1084. Published online September 15, 2001.

Galloway-Mowat Syndrome in Two Siblings

Hae-Sung HS Jung¹, Eun-Young EY Cho¹, Jae-Young JY Lim¹, Ji-Hyeoan JH Seo¹, Myoung-Bum MB Choi¹, Chan-Ho CH Park¹, Hang-Ok HO Woo¹, Hee-Shang HS Youn¹

¹Department of Pediatrics, College of Medicine, Gyeongsang National University, Chinju, Korea

Abstract

We report on two Korean siblings with multiple congenital anomalies : microcephaly, gyral abnormality, minor facial anomalies, and congenital nephrotic syndrome. The first infant developed proteinuria at age 3 days. This condition appeared similar to that described by Galloway and Mowat and reviewed by Cooperstone, et al, especially the presence of abnormal gyral patterns. She died at 19 months. The second infant; the brother of the first baby had a very similar condition. These two cases may represent the first cases of Galloway-Mowat syndrome in the Korean population.

Keywords :Galloway-Mowat syndrome, Microcephaly, Gyral abnormality, Congenital nephrotic syndrome