A Case of Prader-Willi Syndrome with FUO Diagnosed at Infancy.
- Author:
Jun Ho KIM
1
;
Jin Hwa JEONG
;
Sung Min CHO
Author Information
1. Department of Pediatrics, College of Medicine, Dongguk University, Po-hang, Korea.
- Publication Type:Case Report
- Keywords:
Prader-Willi syndrome;
FUO;
Hypotonia;
Feeding problem;
FISH
- MeSH:
Base Sequence;
DNA;
Fetal Movement;
Fluorescence;
Humans;
Hyperphagia;
Hypogonadism;
Infant;
Infant, Low Birth Weight;
Infant, Newborn;
Intellectual Disability;
Muscle Hypotonia;
Obesity;
Prader-Willi Syndrome*
- From:Journal of the Korean Pediatric Society
2000;43(8):1142-1148
- CountryRepublic of Korea
- Language:Korean
-
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(qll-13)) was reported by Ledbetter in 1981, which was thought to be of paternal origin. Recently, such micro- deletion 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.
