To describe two cases of co-occurrence of Neurofibromatosis type 1 (NF1) and Multiple Sclerosis (MS), highlighting diagnostic challenges and the rarity of this association.
Approach:
Patient 1: A 33-year-old female with acute bilateral visual loss and bladder dysfunction was diagnosed with MS after MRI showed multiple demyelinating lesions and CSF analysis revealed oligoclonal bands. NF1 was identified through the presence of café-au-lait macules, optic pathway glioma, and Lisch nodules.
Patient 2: A 49-year-old male with NF1 presented with visual blurring and was later diagnosed with MS after follow-up MRI revealed new demyelinating lesions.
Key Findings:
Co-occurrence of NF1 and MS is rare, with only about 40 cases reported.
Diagnosis can be complicated due to overlapping clinical and neuroimaging features, including differentiating MS-related optic neuritis from OPG-associated visual symptoms.
Patient 1 presented with MS symptoms leading to the discovery of NF1, while Patient 2 was diagnosed with MS during NF1 surveillance.
Interpretation:
The cases illustrate the diagnostic challenges in distinguishing between MS-related symptoms and those associated with NF1, emphasizing the need for thorough neuroimaging and neuro-ophthalmological evaluations.
Limitations:
The rarity of NF1-MS coexistence limits the generalizability of findings and complicates diagnosis.
Absence of established therapeutic guidelines complicates management.
Conclusion:
The study highlights the importance of careful evaluation in patients with NF1 presenting new neurological symptoms, as they may have co-occurring MS.
