A Case of Advanced Charcot-Marie-Tooth Disease Showing Extreme Lumbosacral Nerve Root Hypertrophy.

Source: PubMed, NCBI / U.S. National Library of Medicine

Charcot-Marie-Tooth (CMT) disease is the most common hereditary motor and sensory neuropathy. While diagnosis is typically established through clinical findings, nerve conduction studies (NCS), and genetic testing, imaging manifestations such as nerve root hypertrophy are increasingly recognized. This case report presents a 43-year-old man with lifelong progressive distal weakness who presented with severe lower extremity atrophy, pes cavus deformities, and wheelchair dependence. Neurologic examination revealed marked distal weakness and hyporeflexia, while nerve conduction studies demonstrated severely reduced sural nerve conduction velocity. MRI of the lumbar spine revealed diffuse, symmetric hypertrophy of the non-enhancing lumbosacral nerve roots. Corresponding filling defects were seen on myelography, consistent with hypertrophic demyelinating neuropathy. This case highlights advanced CMT with pronounced nerve root enlargement, a feature that can support diagnosis when genetic testing is unavailable. Recognition of imaging findings helps differentiate CMT from other causes of polyneuropathy.