Editor-in-Chief: Alaa Abd-Elsayed, MD, PhD
BACKGROUND: Pompe disease is an uncommon inherited disorder of glycogen metabolism and lysosomal storage caused by reduced alpha-glucosidase activity. The resultant accumulation of glycogen results in skeletal myopathy, which can be a painful condition. Muscles of the pelvic girdle and proximal lower limbs are usually preferentially involved.
CASE REPORT: We present a case of long-standing axial low back pain in a patient with a known history of Pompe disease. She had failed management with physical therapy, multiple medications including nonsteroidal anti-inflammatory drugs, neuropathic medications, muscle relaxants, and opioids. Magnetic resonance imaging revealed marked fatty atrophy of paraspinal and psoas muscles, loss of lordosis, bilateral L4-L5 disc bulging with flattening of the ventral thecal sac margin and neural foraminal stenosis, and facet hypertrophy of T11-T12 resulting in posterior canal stenosis. Bilateral medial branch blocks of the L2-L5 levels with steroid and local anesthetic were performed twice for relief of axial back pain with good results.
CONCLUSION: Management of Pompe disease involves a multi-disciplinary approach that should aim to identify and alleviate pain symptoms. Medial branch blocks can be used successfully for the short-term treatment of axial back pain in Pompe disease.
KEY WORDS: Back pain, facet arthropathy, glycogen metabolism, medial branch block, muscle atrophy, myopathy, Pompe, radiofrequency ablation