Diagnostic profile of neonates with Prader-Willi syndrome
Wu Jingjing, Bao Lei, Li Luquan
Department of Neonatal Diagnosis and Treatment Center, Children'sHospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development andDisorder, China International Science and Technology Cooperation Base of Child Development and Critical Disorder, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China
Abstract: 【Abstract】 Objective To summarize the clinical features of neonates with Prader-Willi syndrome (PWS)and to construct its clinical diagnosis flowchart, so as to provide help for early clinical screening and further gene diagnosis. Methods The clinical data of 15 patients with PWS from January 2014 to May 2018 in the Department of Neonatology, Children's Hospital of Chongqing Medical University were collected andthe relevant clinical manifestations were analyzed. The domestic reports on the clinical manifestations of neonates with PWS were reviewed, and the most common clinical manifestations were summarized. Then the flowchart of clinical diagnosis was constructed. Results In this analyzed 15 patients, caesarean section in 10 cases (66.7%), and the small for gestational age (SGA) in 11 cases (73.3%). The clinical characteristics in neonatal period included hypotonia, feeding difficulty, poor response, less movement and weak crying in 15 cases (100%). 10 cases had small external genitalia or hypoplasia (66.7%): 9 male neonates had gonadal dysplasia, 7 of them had cryptorchidism; and 1 female neonate showed small labia majoris. Skin pigmentation decreased in 6 cases (40.0%). Characteristic facial feature was discribed in 1 case (6.7%). 85 neonates from the 17 literatures were included. The phenotypes were discribed as the follows: hypotonia (100%, 85/85), weak crying (95.3%, 81/85), feeding difficulty (90.6%, 77/85), skin hypopigmentation (78.5%, 51/65), hypogonadism (72.9%, 62/85), cesarean (71.4%, 50/70), characteristic facial features (67.1%, 57/85), decreased fetal movement (37.0%, 20/54), SGA (33.3%, 24/72), low birth weight (21.2%,11/52), polyhydramnios (20.3%,14/69), and premature birth (18.1%, 15/83). Conclusion Neonates with hypotonia which was unexplained should be concerned the possibility of PWS and the clinical manifestations.Gene diagnosis should be performed as early as possible, so as to intervene early and improve the prognosis of these patients.
2021, Vol. 9 
