| A Case of Prader-Willi Syndrome with FUO Diagnosed at Infancy |
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Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho |
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Department of Pediatrics, College of Medicine, Dongguk University, Po-hang, Korea |
| 불명열을 주소로 내원한 영아에서 진단된 Prader-Willi 증후군 1례 |
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김준호, 정진화, 조성민 |
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동국대학교 의과대학 소아과학교실 |
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| Abstract |
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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. |
| Key Words:
Prader-Willi syndrome, FUO, Hypotonia, Feeding problem, FISH |
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