Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesity. Dietary over-restriction can result from the careful regulation of food intake by families. We present two children with an alternative cause of poor growth, to our knowledge not previously reported.
Case presentation: Case 1: a girl (3 y 8 m) born 2 kg, with poor feeding, diagnosed with genetically confirmed PWS in neonatal period. She demonstrated poor weight gain but no GI symptoms. Serum tTG was positive at 41 U/ml (06.99) with positive endomysial antibodies, the diagnosis of CD was histologically confirmed following intestinal biopsy. Commencement of a Gluten Free Diet (GFD) was associated with a marked improvement in mood and general wellbeing.
Case 2: a girl (7 y) with poor weight gain, who required NG tube feeding (until 7 m old), diagnosed with genetically confirmed PWS. GH commenced at 5 years. On recent review despite a good appetite, weight gain was poor and abdominal swelling noted. There were no other GI symptoms and no family history of CD. Further investigation revealed an elevated tTG 124 U/ml (0.6-6.99) and positive endomysial antibodies, the diagnosis of CD was confirmed histologically. Following commencement of GFD, the abdominal swelling resolved.
Conclusion: Other than poor weight gain these patients were relatively asymptomatic and did not display the classic GI symptoms of CD. We believe this diagnosis should be considered in those patients with PWS with poor weight gain. We are currently monitoring for CD in our PWS patients.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology