717 - A Case for Collaboration: Multidisciplinary Management of Gait Dysfunction in a Patient with Neurofibromatosis and Spastic Diplegic Cerebral Palsy

Case Diagnosis: Complex Gait Dysfunction and Neuropathic Pain in the Setting of Spastic Diplegic Cerebral Palsy and a Malignant Sciatic Nerve Sheath Tumor

Case Description:

A 17-year-old male with ADHD, autism spectrum disorder, spastic diplegic cerebral palsy (SDCP), and neurofibromatosis type 1 (NF1) complicated by extensive plexiform neurofibromas was initially referred to PM&R for complex gait dysfunction, toe walking, and bilateral cavus foot deformities. His treatment included botox injections in the bilateral gastrocnemius muscles, physical therapy, and nightly AFOs. Several years later he developed left-sided lower extremity neuropathic pain due to a malignant sciatic nerve sheath tumor. This tumor was treated with partial surgical resection, chemotherapy, and focal pelvic radiation. Despite this treatment and use of several neuropathic agents, he continued to experience pain which further worsened his gait dysfunction. He represented to PM&R clinic with bilateral posterior leg pain. He was still utilizing bilateral nightly AFOs but had not been in physical therapy. With reinitiation of targeted gait training the patient had significant improvement in pain and gait.

Discussions:

The estimated prevalence of NF1 and SDCP are about 1 in 3,500 and 1 in 1,000 live births, respectively. Therefore the probability of inheriting these disorders together is extremely rare. 

 

This case demonstrates a complex interplay between spasticity due to central nervous system lesions and neuropathic pain due to neurofibroma-induced peripheral nerve compression, resulting in difficult to treat gait dysfunction and pain. 

 

It is important that the physicians taking care of these patients from specialties including pediatrics, psychiatry, neurology, oncology, general surgery and PM&R communicate frequently and effectively to ensure comprehensive care and the best possible treatment outcomes.

Conclusions:

 

Overall, the best strategy for managing simultaneous upper and lower motor neuron lesions proved to be a multidisciplinary approach with medical management, neuropathic agents, gait training, lower extremity stretching and strengthening, and strict regular use of AFOs.