An unusual case of familial schwannomatosis involving the anterior mediastinum, pleura, and orbit

Abstract Schwannomatosis is a rare genetic disorder characterized by slow growth of peripheral nerve sheath tumors in locations outside the vestibular nerves and skin. Common locations include the spine, extremities, head, and neck. Our case involves a 38-year-old woman with a recent history of pelvic schwannoma who presented to the emergency department for progressive back pain, weakness, poor balance, and vision changes. Imaging revealed masses suspicious of schwannoma in the anterior mediastinum, pleura, right orbit, and lumbar spine. Biopsy of the pleural mass confirmed schwannoma, and genetic testing revealed a variant in the LZTR1 gene associated with autosomal dominant schwannomatosis. Her presentation is unique, as schwannomas are rarely found in the anterior mediastinum, pleura, and orbit. Given reports of prolonged diagnostic delay and misdiagnosis in patients with schwannomatosis, we encourage consideration of schwannomas in the differential diagnosis of masses in these regions.