Prader-Willi syndrome (PWS) is a genetic condition (frequency from 1:8000 up to 1:30 000), which is associated with deletions of chromosome 15 (region 15q11.2), maternal uniparental disomy and impring defects. It is characterized by muscle hypotonia in the early postnatal period, excessive weight gain after 2 years of age, lack of satiety, short stature, hypogonadism and compulsive-like behavior. Every patient has his/her own specific needs that change with age and individualized approach is mandatory for providing them with better quality of life. PWS patients sometimes present with peculiar signs and complaints, and it is extremely important that experienced multidisciplinary team cares for them. We present a typical PWS patient with tendency of self-scratching of the rectum, that caused a lot of non contributing laboratory tests. The patient is a 16 year old girl, born from first pathological pregnancy and delivery. Her postpartal care was complicated and she had delayed motor and mental development. The girl has late diagnosis, genetically confirmed by methylation test (B.I.R.D. Foundation, Mauro Baschirotto Institute for Rare Diseases, Italy), at 11 years of age. She was started with GH therapy immediately, and achieved good results without safety concerns. The girl and her family achieved satisfactory control of weight for the syndrome (BMI 30 kg/m2), losing 15 kg for 1 year after proper counselling. She was doing well until a year ago her parents noticed that there is a large amount of blood and mucus in girls faeces. She was admitted at another clinic, where a lot of tests were performed (blood and faeces samples, abdominal ultrasonography, contrast colon radiography and colonoscopy with biopsy under anesthesia). She was misdiagnosed with mild form of chronic nonspecific colitis and rectal ulcer. A high-dose anti-inflammatory treatment (Mesalazine) was prescribed together with probiotics and high-carbohydrate dietary regimen was recommended. Three months later the girl was admitted for routine endocrine tests. The nature and possible etiology of the bleeding problem were discussed and recommendations for detailed observation of the child were given, after which the mother was able to observe self scratching of the rectal area. All unnecessary medications were stopped. In conclusion, the self-scratching of rectum is common in PWS patients due to constipation, itching and high pain threshold. Revealing the nature of connected bleedings could spare a lot of unnecessary tests and treatments to patients, and counseling of parents could prevent further episodes.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology