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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Does Neurofibromatosis Need Specialist Management?

Hi. I recently discovered that my 12 year old adopted son has what I presume to be neurofibromatosis. We have a regular check up appt next week and I am wondering if I should put his diagnosis and follow thru in their hands or call a clinic myself to arrange diagnosis. Thank you.
Wed, 8 Oct 2014
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Pediatrician 's  Response
Hi. Thank you for posting your question.
Neurofibromatosis is a genetic condition which requires few criteria to be fulfilled in order to confirm the diagnosis. It affects different systems of the body like brain, skin, eyes, ears and development and the manifestations depend on whether it is type 1 or 2.
In any case a clinical consultation would be required and the group of symptoms need to be analysed in order to reach the clinical diagnosis. This can be later supported with genetic analysis if required.
If you have any more doubts, do write back.
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Note: For detailed guidance on genetic screening consult a genetics specialist
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Does Neurofibromatosis Need Specialist Management?

Hi. Thank you for posting your question. Neurofibromatosis is a genetic condition which requires few criteria to be fulfilled in order to confirm the diagnosis. It affects different systems of the body like brain, skin, eyes, ears and development and the manifestations depend on whether it is type 1 or 2. In any case a clinical consultation would be required and the group of symptoms need to be analysed in order to reach the clinical diagnosis. This can be later supported with genetic analysis if required. If you have any more doubts, do write back.