I was wondering if any one could tell me if they know if lisch nodules can be seen in Nonans syndrome..my son has many many signs of noonans syndrome they are testing him now for it. he is short (20%) curly hair, ptosis, slight slant to his eyes. small nose. Pectus EX the cardiac issues (VSD ASD PDA Ligation, pulmonary stenosis) confirmed CAL marks 5 of them >5mm.. plus he has lisch nodules..
okay now to throw a curve ball I have neurofibromatosis. confirmed with biposy that the 5 tumors were schwannoma. I have many CAL marks and the proper freckling.. my son's test for Nf 1 negative mine for NF2 and schwannomatosis neg.. no family history of it...they feel mine could be mosaic NF 2 but unsure.
they won't confirm my son with nf 1 as they really don't feel I have NF 1 since my biopsies were schwannomas
so I guess my question is can you have lisch nodules like him with noonans syndrome we really feel he has this.. i feel he is NF-Noonans..
How are you? Noonan syndrome is a genetic disorder caused by defects in four genes (KRAS, PTPN11, RAF1, SOS1). Many tests may need to be done to confirm the diagnosis including physical examiantion, possible signs of congenital heart disease, blood tests revealing signs of bleeding tendency, genetic testing and specific tests depend on what the symptoms present. Patients with features of both Type I neurolibromatosis (NF-1) and Noonan syndrome (NS) have been described, but considerable variability of phenotypic expression occurs. It is best that you discuss this with your doctor to ease any anxiety regarding the diagnosis. Take care and do keep us posted.
not surprising my son's test for noonans came back negative, being it is about 60% true positive I am wondering if they can make a clinical diagnoses. we are scheduled to see a genetic counselor next month who specializes in noonans and CHD.. as my son has about 85-90% of the symptoms of noonans.. i truly feel he does have NF1-noonans.. we just found out too that my 12 year old also has lisch noudles...
I just want some answers and to help find out what is going on.. i think it is all going to come down to a clinical diagnoses, if they do that..
my mom feels not to push the issue of finding out saying it might make the stress worse.. i disagree as the unknown is scary, just like when his HR goes above 200 or as low as 38 we are checking him very carefully by many people.. thank you for your advice and when we get some answers hopefully, from the doctor in Boston, I will let you know
Thanks for the update. I know how scary it must be to be in the dark and not knowing the unknown. But hang on, be proactive and stay positive that we'll soon get to the bottom of this. Ask your local health office also about support groups which may be very helpful at this time. Do keep us posted with the genetic counselor appointment. Take care and best regards.
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