Clinical Analysis Of 46 Cases Of Prader-Willi Syndrome

Objective: To study clinical features and diagnostic means of children with Prader-Willi syndrome(PWS)from neonatal period to adolescence.Methods: Conduct retrospective analysis of clinical characteristics and genetic testing results of children with PWS in Children’s Hospital of Chongqing Medical University from January 2010 to January 2016.Results: Totally 46 children with PWS were chosen,28 male,18 female,the ratio of male to female being 3:2,the age of children receiving medication for the first time ranges from birth to 9 years old,the age of diagnosed children ranges from 14 days to 14 years,and the longest course of PWS had lasted for 9 years.The main clinical manifestations include hypotonia(28 cases,60%),feeding difficulties(20 cases,44%),low crying(18 cases,40%),disturbance of intelligence(42 case,92%),obesity(25 cases,55%)and microsomia(26 cases,57%),etc.Different ages show different performances: newborns(0~28days)mainly presented as hypotonia,weak crying,poor suck;Infant(29days~1year)showed backward motor development,hypotonia,weak crying,poor suck,special facial features and skin hypopigmentation etc.mainly;Baby(1~3years)mainly showed backward motor and intelligent development,hypotonia and skin hypopigmentation etc.Children(>3years)mainly showed backward intelligent development,bulimia,obesity,microsomia and agenosomia(incomplete sextual development).Among the samples,44 cases are 15q11-13 region deletion of paternal origin of the genetic material(96%),whilst 2 cases are uniparental disomy of maternal origin of the genetic material(4%).Conclusions: As different children with PWS showed different clinical manifestations,the earlier the genetic testing taken,the more beneficial for the early diagnosis.