Clinical analysis of 46 cases of Prader-Willi syndrome

doi:10.19538/j.ek2017030614

Abstract：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 included hypotonia (28 cases,60％),feeding difficulties (20 cases,44％),low crying (18 cases,40％),disturbance of intelligence (42 cases,92％),obesity (25 cases,55 ％) and microsomia (26 cases,57％),etc.Different ages showed different performances:newborns (0-28 days) mainly had hypotonia,weak crying,poor suck;infants (29 days-1 year) mainly showed backward motor development,hypotonia,weak crying,poor suck,special facial features and skin hypopigmentation etc.;babies (1-3 years) mainly showed backward motor and intelligent development,hypotonia and skin hypopigmentation etc.Children (＞ 3 years) mainly showed backward intelligent development,bnlimia,obesity,microsomia and agenosomia (incomplete sextual development).Among the samples,44 cases were 15q1 1-13 region deletion of paternal origin of the genetic material (96％),whilst 2 cases were uniparental disomy of maternal origin of the genetic material (4％).Conclusion As different children with PWS show different clinical manifestations,earlier genetic testing is beneficial to the early diagnosis.