All issues > Volume 43(8); 2000

Case Report

J Korean Pediatr Soc. 2000;43(8):1142-1148. Published online August 15, 2000.

A Case of Prader-Willi Syndrome with FUO Diagnosed at Infancy

Jun Ho JH Kim¹, Jin Hwa JH Jeong¹, Sung Min SM Cho¹

¹Department of Pediatrics, College of Medicine, Dongguk University, Po-hang, Korea

Abstract

Prader-Willi syndrome(PWS) was first described by Prader et al in 1956. This syndrome is characterized by diminished fetal activity, low birth weight, infantile hypotonia with feeding problem, temperature instability, early onset of childhood hyperphagia with consequent obesity, short stature, hypogonadism and mental retardation. The deletion of chromosome 15(del 15(q11-13)) was reported by Ledbetter in 1981, which was thought to be of paternal origin. Recently, such microdeletion may be diagnosed by fluorescence in situ hybridization(FISH) that recognizes specific DNA base sequence. We experienced a Prader-Willi syndrome confirmed by FISH in an infant that had hypotonia, growth retardation, feeding difficulty and FUO since 1 month of age. We report this case with a brief review and related literature.

Keywords :Prader-Willi syndrome, FUO, Hypotonia, Feeding problem, FISH