Prader Willi Syndrome with Maternal Uniparental Disomy Mutation in a 7-year- old Nigerian girl- A Case Report

Prader-Willi Syndrome (PWS) is one of the earliest cases of human genetic imprinting of parental origin involving chromosome 15, with an incidence of 1:10000-30000 per live births. Symptoms of PWS are erratic, beginning early in life with difficulty in feeding and failure to thrive and evolving into new characteristics such as obesity as age advances. Reported here is a case of a 7-year-old girl who presented at the pediatric endocrinology clinic with a 4-year history of progressive weight gain, voracious appetite, snoring during sleep, and poor academic performance. She had feeding difficulties, growth failure, and delayed developmental milestones in the first year of life. This was managed with a fortified diet till she was 3 years of age, when she started eating voraciously and was gaining weight increasingly. Medical history, characteristic facial appearance, and anthropometry measurements at presentation were suggestive of Prader-Willi Syndrome, which was confirmed with DNA analysis. She is currently on dietary modification and planned exercises, and she lost 3 kg over a period of eight months. She is also receiving assisted learning both at school and at home. Prader-Willi syndrome should be considered in a child with initial growth failure that subsequently translates into progressive weight gain following excessive eating and cognitive impairment. Early commencement of lifestyle intervention could help in reducing excessive weight gain. This case confirms limited awareness and insufficient recognition of this rare clinical syndrome. To our knowledge, this is the first genetically confirmed case of PWS in Nigeria.