Dumb-bell shaped cervical neurofibroma

A 45-year-old lady presented with complaints of neck pain, progressive weakness of all four limbs, numbness over the trunk and limbs for 6  months and inability to walk without support since 2 months. She was noted to have multiple cutaneous neurofibromas over the face, trunk and limbs, café-au-lait spots (Figure  1a), axillary freckling and Lisch nodules of the irises in both eyes. She had grade 4/5 muscle power in upper and lower limbs, hyperreflexia and reduced sensations below neck level. A diagnosis of neurofibromatosis type 1 (NF1), with spastic quadriparesis resulting from cervical cord compression consequent to spinal neurofibroma was considered. MRI of the cervical spine revealed a dumb-bell shaped extradural neurofibroma (arrows inFigure  1b), with intraspinal component compressing and displacing the cervical spinal cord to the right at C2 (second cervical vertebra) level and extraspinal component extending laterally through the C1 –C2 neural foramen into the soft tissues of neck on left side. The patient has been scheduled for excision of the dumb-bell tumour.
Source: QJM - Category: Internal Medicine Source Type: research