Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature

Abstract

Objective: The clinical symptoms of neonatal Prader-Willi syndrome (PWS) are not typical and are easy to miss. The aim of the study was to investigate the clinical features and genetic characteristics of seven cases of neonatal PWS from northern China, and to improve the understanding of PWS in neonates.Methods: We retrospectively analyzed seven infants diagnosed by methylation specific multiplex ligation probe amplification technology (MS-MLPA) in the Neonatology Unit of Shengjing Hospital of China Medical University from September 2016 to July 2020.Results: All seven cases involved full term or nearly full-term infants born to mothers without a history of abnormal pregnancy or delivery. Difficulty in feeding occurred immediately after birth in infants with decreased hypotonia. Five patients had characteristic craniofacial morphology, such as a prominent forehead, narrow face, almond-shaped eyes, small mouth, and downturned mouth. Further, three of the seven infants had patent ductus arteriosus (PDA). In addition, three neonates had hyperammonemia, hypoglycemia, and idiopathic edema, respectively. PWS could be effectively diagnosed and genotyped by MS-MLPA.Conclusion: Neonates with PWS have hypotonia and feeding difficulty. Characteristic facial features and genital hypoplasia are common in neonatal PWS. Infants with PWS may be predisposed to PDA, hypoglycemia, hyperammonemia, and edema.

A genetic condition that spans both extremes of the nutritional spectrum

“…Prader Willi Syndrome (PWS) is one of the most common causes of genetic obesity, with an incidence rate of approximately 1 in 10,000 to 1 in 25,000 live births. The condition was first described by Swiss researchers, Andrea Prader, Heinrich Willi, and Alexis Labhart, in 1956 as children with feeding difficulties, poor muscle tone, underdeveloped sex organs, short stature, small hands and feet, and some cognitive and behavioral impairments [ 1 , 2 ]. Genetic testing can diagnose the condition which is caused by the absence of expression of imprinted genes in the paternally derived region of chromosome 15q11-q13, also known as the Prader Willi critical region [ 3 ].…”

Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center

“…Prader-Willi syndrome (PWS) is a typical example of imprinting inheritance [ 25 ]. Maternal UPD on chromosome 15 can lead to PWS, and the main intrauterine manifestations of PWS are reduced fetal movement and FGR [ 26 ]. This study confirmed that one fetus had maternal UPD on chromosome 15 (PWS), and ultrasonographic findings of this fetus revealed FGR and polyhydramnios.…”

Occam's razor dulled: the occurrence of multiple genetic diagnoses

“…While we initially suspected these findings were the result of Down syndrome combined with an acute illness, a chromosomal microarray was ordered and returned with findings suggestive of a second diagnosis that was later confirmed by methylation analysis to be Prader-Willi syndrome. This provided an explanation for his overwhelming hypotonia [13].…”