Can MRI detect neurofibromatosis?
Doctors often use MRI scans to diagnose neurofibromatosis. In addition, the Neuroradiology section of the Department of Pediatric Radiology, part of Children’s Hospital’s Brain Care Institute, offers the latest testing and diagnostic technologies, including: CT scan (computed tomography scans)
What is the most appropriate investigation to confirm the diagnosis of NF1?
Imaging tests. X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas.
What can be mistaken for neurofibromatosis?
Legius syndrome also is called a neurofibromatosis 1-like syndrome because its symptoms are similar to NF1. Individuals with Legius syndrome have skin problems including brown birthmarks, called cafe-au-lait spots, and freckling, as well as mild learning problems and a larger head.
Can you see neurofibromatosis?
These harmless nodules can’t easily be seen and don’t affect vision. Soft, pea-sized bumps on or under the skin (neurofibromas). These benign tumors usually develop in or under the skin, but can also grow inside the body.
What follow up tests are needed for NF1?
Each examination should include blood pressure measurement, assessment of the skin for typical lesions (including early or growing neurofibromas), visual acuity check, evaluation of the eyes for evidence of proptosis or strabismus, and examination of the spine and extremities for any abnormalities.
What is the genetic test for neurofibromatosis?
Neurofibromatosis Type 1 Genetic Testing A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present. A diagnosis of neurofibromatosis type 1 is still possible in people who don’t have an identifiable mutation. Testing can now also be performed for SPRED1.
Can you have neurofibromatosis without symptoms?
What Are the Signs & Symptoms of Neurofibromatosis Type 1? Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. By their first birthday, most children with NF1 have several skin spots, called café-au-lait (“coffee with milk”) spots because of their color.