The Role of Magnetic Resonance Imaging in the Diagnosis of Spinal Dumbell Neurofibromatosis: A Case Report from a Specialist Hospital in Port Harcourt

Abstract

Neurofibromatosis occurring in the spine also known as spinal neurofibromatosis (SNF) is a rare disease entity and they occur either unilaterally or bilaterally at the spinal roots. The low prevalence rate of the disease and scarcity of previous literatures is the main aim for this report.
 Our case study is a 29-years-old lady who presented to the Radiology department for a lumbosacral spine MRI, on account of both lower limb weakness, paresthesia, unsteady gait and finally inability to walk. The symptoms have been there since she was 14 years (15 years of progressive symptoms). She also presented with multiple macules on the skin (café au lait spots). Magnetic Resonance Imaging (MRI) of the lumbosacral spine revealed bilateral spinal neurofibromas at the spinal roots of the fourth lumbar vertebra to the sacral/coccygeal vertebrae with destruction of the sacro-coccygeal bones. MRI of the brain revealed no abnormalities in the brain and optic tract. The patient fulfilled the National Institutes of Health (NIH) criteria and that of revised diagnostic criteria for Neurofibromatosis (NF1).
 The patient also presented with lack of pain which could be due to impairment in sensory neurons. We describe a case of spinal neurofibromatosis diagnosed by MRI in a young lady with progressive lower limb weakness, paresthesia, sensory loss, café-au- lait spots and paraplegia.