Rare case of schwannomatosis presenting with cauda equina syndrome: a case report

Schwannomatosis is a rare disorder characterized by multiple schwannomas without vestibular schwannomas or other features of neurofibromatosis type 2 (NF2). It commonly presents with neuropathic pain, neurological deficits, and soft tissue tumors but rarely leads to cauda equina syndrome, a serious condition requiring urgent intervention.

We report a 28-year-old Pakistani female with progressive back pain, lower limb weakness, sensory deficits, bladder and bowel incontinence, and multiple tender swellings, consistent with cauda equina syndrome. Neurological examination revealed right-sided lower limb weakness. MRI of the brain showed no vestibular schwannomas, while spinal MRI identified a heterogeneously enhancing schwannoma from D11 to L5 with cystic extension into the neural foramina, proximal central canal dilation, and spinal cord compression. Multiple additional schwannomas were detected. Right thigh mass biopsy confirmed schwannoma, showing Antoni A and B regions, Verocay bodies, and S-100 positivity. Genetic testing was not performed due to financial constraints.

The patient underwent partial spinal schwannoma resection, leading to spinal decompression and resolution of cauda equina syndrome symptoms. Symptomatic cutaneous schwannomas were excised. Neuropathic pain was managed with pregabalin and NSAIDs. At 6-month follow-up, she showed improved lower limb strength, resolution of incontinence, and no significant tumor regrowth.

This case highlights schwannomatosis presenting with cauda equina syndrome, emphasizing the importance of early recognition, spinal decompression, and differentiation from NF2 for optimal management.