Background:
Neurofibromatosis 1 (NF1) has a broad spectrum of clinical manifestations, most typically involving café-au-lait spots and skin neurofibromas. Only 2% of patients with NF1 have symptomatic spinal tumors.
Case description:
A patient with a previous diagnosis of NF1 presented with cervicalgia, dysphagia/mild dysphonia, gait alteration, and progressive hypoesthesia involving all four limbs. The magnetic resonance documented a giant dumbbell neurofibroma arising between the C2 and C3 levels which extended toward the foramen magnum, causing medullary and bulbar compression. The major challenge of surgical management was the enormous size and location this C2-C3 (5 cm × 4 cm × 5.1 cm) lesion.
Conclusions:
Compression of the foramen magnum attributed to a dumbbell giant spinal neurofibroma at the C2C3 level resulting in prebulbar cisterns should be among the differential diagnostic considerations for patients presenting with tetraparesis and underlying NF1.