A friend has been diagnosed with Leopard Syndrome and she is now thirty years old. She has reflux and sometimes she can’t eat for about seven weeks. She goes in and out of hospital because of dehydration. Are these problems common?
Cyclical vomiting and spells of dreadful sickness are some things that we have recognised in some of our patients with CFC and Costello Syndrome in particular so that probably suggests that it happens for some people with Noonan Syndrome too. The treatment of cyclical vomiting in general is very difficult. A gastroscopy is required and in severe cases further investigation. If this a new onset of needing Oxygen and being unable to tolerate food it needs to be treated as seriously in her as it would be in any thirty-year-old and not be dismissed just because she has a syndrome. We have seen in Costello Syndrome people get development of new reflux, secondary to a chiari malformation in adult life so if she hasn’t had a brain scan with imaging of her posterior fossa, that might be worth doing.