Final Diagnosis -- Intradural Schwannoma in Schwannomatosis
Intradural schwannoma in Schwannomatosis
Schwannomas are benign neoplasms of the peripheral nerve sheath that originate from the proliferation of Schwann cells and are typically well demarcated from surrounding tissue. Schwannomatosis has recently been recognized as a distinct tumor syndrome separate from NF-1 or NF-2 (1, 7-10). It is characterized by the presence of multiple schwannomas or schwann cell hyperplasia without the cutaneous stigmata, neurofibromas, or vestibular schwannomas (6, 12). The dominant symptom is pain, which develops as an schwannoma enlarges, compresses nerves, or presses on adjacent tissue. Recent advances in medical genetics suggest inactivation of both SMARCB1 and NF2 genes could explain the cause of schwannomatosis (2, 3, 11).
The typical locations of schwannomas include spinal nerves, peripheral nerves, and multiple cranial nerves. Isolated involvement of a single limb (4) or a single nerve (5) by multiple schwannomas have also been reported. Here we report a case of schwannomatosis with multiple intradural, extramedullary lesions causing radiculopathy. The goal of surgery is to obtain a diagnosis as well to remove symptomatic lesions as possible if clinical symptoms appear referable to a specific lesion. Complete surgical resection is generally not undertaken given the presence of multiple lesions throughout the spinal cord and/or cauda equina. Treatments for progressive lesions primarily include re-resection and radiation. Given her stable examination at present, this patient will undergo observation and be referred to medical genetics for further work-up.
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Contributed by Ning Lin, MD, Anita Huttner, MD, PhD, Paul Spieler, MD, Elizabeth B. Claus, MD, PhD, Santosh Kesari, MD, PhD