Sindrome di Noonan, associata a celiachia
e a cardiomiopatia

A 4-year-old girl has been hospitalized with abdominal pain and weight and height loss. The patient presented with dysmorphic features and an unusual congenital cardiopathy that had been diagnosed with Noonan syndrome. Lab tests, which were positive for anti-tTg antibodies and anti-endomysium, suggest a second diagnosis: the association of Noonan syndrome with celiac disease, both potentially responsible for the late growth. Actually, the exclusion of gluten from the diet will help to improve her growth and to eliminate the abdominal pain. There is, actually, another diagnosis of hypertrophic cardiopathy: the association with celiac disease has been described in this case as well. It is possible that the association with the celiac disease is due to the fact that a patient with Noonan syndrome is more susceptible to celiac disease.