A Case of Microcephaly and Early-onset Nephrotic Syndrome : Galloway-Mowat Syndrome

Yoo, Byung-Won; Cho, Sung-Min; Kie, Jeong-Hae; Jung, Hee-Jung; Kim, Kee-Hyuck

J Korean Soc Pediatr Nephrol > Volume 7(2); 2003 > Article

J Korean Soc Pediatr Nephrol 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

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