Bilateral optic neuritis and multiple nerve sheath tumors in a patient with genetically characterized Ehlers-Danlos syndrome: A rare co-occurrence
Abstract
Classical‑like Ehlers-Danlos syndrome (clEDS) due to TNXB variants is a hereditary connective tissue disorder that shares clinical features with classic EDS but differs genetically from the COL5A1/COL5A2‑associated cEDS subtype. The coexistence of inflammatory optic neuropathy and multiple nerve sheath tumors in this context is rarely reported. We describe a 26-year-old woman with genetically characterized clEDS (TNXB variant) who presented with subacute bilateral visual loss. Orbital magnetic resonance imaging (MRI) demonstrated bilateral optic nerve thickening and contrast enhancement consistent with active optic neuritis. Comprehensive neuroaxis magnetic resonance imaging revealed multiple intradural-extramedullary and intramedullary nodular lesions involving cranial and spinal segments, radiologically compatible with multiple nerve sheath tumors. Although imaging findings raised suspicion for schwannomatosis, molecular testing for SMARCB1, LZTR1, and NF2 variants were not available, precluding definitive classification according to updated consensus criteria. Antibody testing for AQP4-IgG and MOG-IgG was not performed, limiting etiologic clarification of bilateral optic neuritis. This case highlights the importance of comprehensive neuroaxis imaging in patients presenting with atypical optic neuritis and concurrent neural lesions. Rather than suggesting a syndromic association, it represents a rare co-occurrence requiring cautious interpretation and multidisciplinary…
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