Early diagnosis of Prader-Willi syndrome in a newborn.
Prader-Willi syndrome (PWS) is a multiple-systemic disorder with many manifestations related to hypothalamic insufficiency, with obesity and behavioral problems as the major causes of morbidity and mortality. We describe a 2-day-old boy who initially presented with neonatal hypotonia and was diagnosed as PWS based on abnormal DNA methylation patterns in the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene at the age of one week, despite the absence of other classical features. Molecular diagnosis for PWS, which has become available in recent years, should be considered for neonates with undiagnosed central hypotonia.
Chen
Chun-Jung
CJ
Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Hsu
Mu-Ling
ML
Yuh
Yeong-Seng
YS
Cheng
Shin-Nan
SN
Kuo
Pao-Lin
PL
Lee
Chuen-Ming
CM
D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology; D011218:Prader-Willi Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013997:Time Factors