Introduction: PraderWilli syndrome [PWS] is a complex genetic disorder with hypothalamic pituitary dysfunction that includes obesity, diabetes and behaviour changes. Obesity in PWS is due to decrease of oxytocin neurons and leptin resistance causing hyperphagia. PraderWilli syndrome is associated with high incidence of altered glucose metabolism. The etiology for diabetes in PWS may be related to morbid obesity and resultant insulin resistance.
Case report: We present a case report of 15 yrs old boy with Prader Willi Syndrome and type 2 diabetes who was followed up in our endocrine clinic for severe obesity (BMI 46), developmental delay and behavioural problems. The TFT, MRI brain and CGH array test were normal. In view of his behavioural problems and severe obesity, a detailed genetic test for PWS was undertaken at the age of 12 years, which confirmed the diagnosis of PWS. He was on metformin from an early age. At 15 yrs, he developed polydipsia with a high HbA1c (105 mmol/mol). He was admitted to monitor the blood glucose levels (BGL) which was high (1316 mmol/l). Continuous glucose monitoring [CGM] was commenced for five days showed values ranging from 12 to 24 mmol/l. Diabetes related antibodies GAD, ZnT8 and insulin antibodies were negative. In view of poor glycaemic control, he was started on mixed Insulin regimen along with Metformin to tackle adherence. Maintenance of optimal glycaemic control remains a significant challenge. Treatment options for youth-onset type 2 diabetes are in-adequate, limited to only two approved drugs (insulin and metformin) and the promotion of healthy lifestyle. In an adult with PWS, treatment with Glucagon-like peptide 1 (GLP-1) receptor agonist and analog has showed improvement in glycemic control.
Conclusion: Young person with type 2 diabetes is an evolving disorder in children, adolescents and young adults with distinctive challenges in both research and clinical care. To maintain the glycemic control in adolescents with PWS is an uphill task.
27 - 29 Nov 2019
British Society for Paediatric Endocrinology and Diabetes