Four Clinical Cases Of PRADER-WILLI Syndrome

Objective To assess the current body of medical knowledge on Prader-Willi syndrome and contribute to the existing literature,we analysed the clinical manifestations and genetic characteristics of four Prader-Willi syndrome cases.Method 1.Clinical and laboratory data of the probands and their family members were collected.2.The samples were retrospectively analysed using chromosome microarray(CMA)and methylation-specific multiplex ligation probe amplification(MS-MLPA).3.The genetic findings and clinical manifestations were analysed and discussed through case studies.Results(1)A total of 4 children diagnosed with PWS,3 males and 1 female were examined.Age of diagnosis:1 month-12 years old.Gestational period:30-39+5 weeks,birth weight:2250g-2500g,delivery methods:2 cases of cesarean section and 2 cases of spontaneous delivery.(2)All 4 cases had neonatal hypotonia and difficulty in feeding,3 cases had hyperphagia and excessive weight gain during early childhood,BMI at 27-33.6kg/m~2.Three male children had PWS characteristic faces,cryptorchidism,mental retardation;2 cases with dwarfism;1 case had diabetes;1 case was severe obesity,severe obstructive sleep apnea hypopnea syndrome.(3)Case 1 and 3 were analysed by MS-MLPA technique.In both cases,the deletion of 15q11-q13 was identified.Case 2 and 4 were analysed by chromosome microarray method.Here as well,the 15q11.2-13.1 fragments were missing from their paternal chromosomes,combined with clinical manifestations suggestive of PWS.Conclusion1.Feeding difficulties and low muscle tone are the main manifestations of PWS during the neonatal period,and the symptoms are easy to be miss diagnosed.When these symptoms manifest during the neonatal period,clinicians should highly suspect PWS.2.Obesity is the main reason for PWS children’s hospital visits.Obesity,mental retardation and abnormalities of the external genitalia are the usual PWS warning signs.3.Genetic testing is the gold standard for the diagnosis of PWS.MS-MLPA is used for the molecular diagnosis of PWS.This method is simple,accurate and has a high detection rate.