1222 - Preparing for the Inevitable: A Curious Case of Neurofibromatosis Type 1

Case Diagnosis: Non-traumatic spinal cord injury secondary to plexiform neurofibromas

Case Description: Neurofibromatosis Type 1 (NF1) is an autosomal dominant disease, which causes genomic instability in ectoderm-derived tissue. This condition affects epithelial & nervous (peripheral and central) tissue, and has a wide range of systemic manifestations – classically including neurofibromas, café au lait macules, freckling, optic gliomas, and skeletal abnormalities which result in more pain than loss of function. This case study, however, of a 25-year-old independently active male with NF1 depicts a severe atypical manifestation of the disease. Patient with chronic, stable neurofibromas, predominantly lumbosacral, presented with inability to walk due to acute bilateral lower extremity pain and weakness as well as neurogenic bowel and bladder, which was secondary to increasing size of cervical spine neurofibromas leading to compression of the spinal cord. MRI showed C4-C7 cervical cord compression due to larger neurofibroma size, in contrast to an MRI 3 years prior which showed no signs of a compromised spinal cord.

Discussions: The patient's disease presentation proved challenging due to the responsibility to treat his acute debilitation and prepare the patient for his inevitable tetraplegia. In a finite amount of time, rehabilitation had the goal of establishing effective physical/occupational therapy, managing pain and spasticity with medication, treating/preventing pressure injuries, implementing a bowel/bladder regimen, and managing his mental health. In addition, the patient's future disease progression had to be acknowledged in management plan - this included discussing functional prognosis with patient, optimizing his mobility and wheelchair ambulation with therapy, and education on independent urinary catheter use.

Conclusions: This case demonstrates a distinct phenomenon of NF1 which has been rarely depicted in literature. It highlights the need for present and future preparation for patients who experience this complication of the disease.