Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy

Abstract

We present a boy with X-linked adrenoleukodystrophy (X-ALD) who was found to have lumbar nerve root enhancement on a screening MRI of the spine. The MRI was performed for lower extremity predominant symptoms. Several weeks after this MRI, he developed leg pain and was averse to walking long distances. He was diagnosed with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) with electromyography, nerve conduction studies, and serial imaging. His case is consistent with CIDP in association with X-ALD based on improvement with intravenous immunoglobulin (IVIG) with continued contrast enhancement and lower extremity symptoms 8 weeks after his initial scans. Contrast enhancement of nerve roots has not been previously described in X-ALD. Nerve root enhancement has been seen in other leukodystrophies such as globoid cell leukodystrophy and metachromatic leukodystrophy. This case also demonstrates comorbid X-ALD with CIDP and highlights possible mechanisms from the literature for this association. We also review the broad differential of cauda equina nerve root enhancement.

Keywords

• Adrenoleukodystrophy
• Very long chain fatty acids
• ATP binding cassette subfamily D member 1
• Chronic inflammatory demyelinating polyneuropathy