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Σάββατο 6 Μαΐου 2017

Myeloneuropathy due to multiple giant plexiform neurofibromas - an unusual presentation of neurofibromatosis type 1

Description

A man aged 33 years presented with a 10-year progressive history of difficulty in walking with poor gripping of flip-flops on feet. It was further associated with foot drop and weakened handgrip. There was a recent history of multiple falls and difficulty in climbing stairs or standing from a squatting position. Family history was suggestive of neurofibromatosis type 1 (NF-1) in grandfather, father, paternal aunt and cousin. Physical examination revealed multiple café-au-lait spots, axillary freckling, Lisch nodules with cutaneous and subcutaneous neurofibromas. On neurological examination, there was spastic quadriparesis with foot drop, distal sensory loss and absent ankle reflexes, which were suggestive of myeloneuropathy. MRI of the cervical spine and whole spine showed characteristic dumbbell-shaped neurofibromas, extending along the Intraspinal and extraspinal areas at multiple cord levels and also along various nerves of the upper and lower limb involving plexuses and roots (figure 1 and



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