Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review.
Cecilie EjerskovM RaundahlP A GregersenM M HandrupPublished in: Orphanet journal of rare diseases (2021)
Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.
Keyphrases
- cognitive impairment
- signaling pathway
- end stage renal disease
- lps induced
- ejection fraction
- primary care
- newly diagnosed
- oxidative stress
- pi k akt
- nuclear factor
- prognostic factors
- peritoneal dialysis
- case report
- early life
- risk factors
- inflammatory response
- patient reported outcomes
- clinical practice
- toll like receptor