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996 - Spinal Cord Stimulator Implantation in a Patient with Mitochondrial Myopathy

Thursday, February 27, 2025

5:00 PM - 6:30 PM MST

Presenting Author(s)

AK

Augusta Kiepper, DO

Resident Physician
University of Kentucky PM&R
Lexington, Kentucky, United States

Co-Author(s)

CM

Christopher Mallard, MD

Interventional Pain Physician
University of Kentucky Interventional Pain
lexington, Kentucky, United States
TM

Tim Morgan, DO

Interventional Pain Fellow Physician
University of Kentucky Interventional Pain
lexington, Kentucky, United States

Case Diagnosis: Chronic pain in a patient with Mitochondrial Myopathy

Case Description: A 31-year-old female presented with chronic axial low back pain with referring symptoms to her bilateral lower extremities. Her past medical history was significant for a T8993G mutation resulting in neurogenic ataxia retinitis pigmentosa (NARP), depression, and ADHD. Her low back pain started in 2011, exacerbated by walking and lumbar extension. Initial history and physical exam were consistent with lumbar facetogenic pain with a Oswestry Disability Index of 24. Previous conservative therapies (therapy and chiropractic manipulation) provided her with minimal relief. Subsequently, she underwent lumbar medial branch blocks bilaterally at L4/5, L5/ALA which provided no relief, thus a spinal cord stimulator trial was recommended.

Discussions: NARP is a clinically complex heterogeneous disorder categorized by proximal muscle weakness, sensorimotor neuropathy, ataxia, and pigmentary retinopathy. Clinical manifestation can present in infancy as an early-onset form or in adolescence/adulthood as a late-onset form. Early-onset presents non-specifically with feeding difficulties, poor weight gain and hypotonia typically resulting in a poor prognosis. Late onset disease presents with ocular signs secondary to optic atrophy or pigmentary retinopathy and proximal neurogenic muscle weakness with sensory neuropathy usually within the second decade of life. EMG findings are predominantly sensory axonal neuropathy which primarily effects the lower extremities more than the upper extremities. There is currently no treatment for NARP, only therapies focused on symptomatic management.

Conclusions: The patient’s SCS trial provided her with a 90% reduction in pain, her sleep was 100% better and activity increased by >75%. With her success from the trial, an SCS was implanted. At day 10 post implant, the patient reported 90% pain relief with improved ability to perform everyday tasks. A literature review revealed no prior case reports of Dorsal Column SCS being trialed for patients with a past medical history of NARP or Leighs disease.