Scleroderma-associated autoantibodies are traditionally detected in patients with Systemic Sclerosis (SSc) and/or myositis. The association of these autoantibodies with Central Nervous System (CNS) manifestations is extremely rare.
We report 6 cases of Scleroderma-specific autoantibodies detected through extensive diagnostic evaluation in patients with Multiple Sclerosis (MS)-like clinical and imaging characteristics.
6 patients with demyelinating lesions atypical for MS in CNS Magnetic Resonance Imaging (MRI) underwent complete evaluation by both Neurology and Rheumatology Specialists. Comprehensive laboratory testing was performed to exclude potential MS mimics. Based on clinical, laboratory or imaging characteristics not typical for MS, testing for several autoantibodies was conducted with commercially available EUROLINE kits.
We report 6 patients (5 females), 24 to 62 years old, 3 with optic neuritis (ON) (1 relapsing) and 3 with pyramidal and sensory clinical findings (2 with progressive course). Apart from arthralgias (3/6) and shortness of breath (1/6) no other signs of SSc were documented. 4/6 had positive anti-PM/Scl-100 antibodies, 1 had anti-Scl-70 and 1 anti-RNAP-III. No other autoantibodies including those against Myelin Oligodendrocyte Glycoprotein and Aquaporin-4 were detected along with no other abnormal laboratory values. Cerebrospinal fluid oligoclonal bands were: type 2 in 2/6 and type 4 in 1/6. Of the ONs, 1 (with anti-RNAP-III) had also brain lesions (one 15mm in diameter) and one cervical spine lesion. All other 3 patients had brain (1 diffuse, 1 one single 16mm lesion) and spinal cord lesions (none transverse) in MRI. The McDonald 2017 diagnostic criteria for MS were fulfilled for 3/6 but 0/6 fulfilled classification criteria for SSc. 5/6 received high-doses of IV methylprednisolone with good clinical response and no adverse effects. 1/6 received Interferon-β (IFN-β) which was discontinued due to myalgias. 1/6 receives cyclophosphamide and 1/6 mycophenolate mofetil.
Detection of SSc-specific autoantibodies in patients with CNS demyelination is extremely rare and it may imply an underlying autoimmune dysregulation distinct from MS. Given the potential exacerbation of systemic autoimmunity by IFN-β and the risk for renal crisis following high doses of corticosteroids, testing for SSc-specific autoantibodies could be useful in the diagnostic evaluation of atypical CNS demyelinating lesions.