Can the Diagnosis of NF1 Be Excluded Clinically?
Can the Diagnosis of NF1 Be Excluded Clinically?
The spinal phenotype of NF1, without associated pigmentary manifestations, can occur in association with a range of mutations in NF1. Molecular testing of the gene is warranted in patients with atypical presentations such as possible spinal NF1, particularly as this diagnosis may not be clinically or radiologically distinguishable from related conditions such as schwannomatosis.
Conclusion
The spinal phenotype of NF1, without associated pigmentary manifestations, can occur in association with a range of mutations in NF1. Molecular testing of the gene is warranted in patients with atypical presentations such as possible spinal NF1, particularly as this diagnosis may not be clinically or radiologically distinguishable from related conditions such as schwannomatosis.