1109 - Nontraumatic Cervical Spinal Cord Injury Secondary to Nerve Overgrowth in Hereditary Motor Sensory Neuropathy: A Case Report

Thursday, February 19, 2026

5:00 PM - 6:30 PM AST

Presenting Author(s)

TS

Trevor A. Shick, MD

Resident Physician
Tufts Medical Center
Jamaica Plain, Massachusetts, United States

Co-Author(s)

FK

Fareea Khaliq, MD

Spinal Cord Injury Physician
VA Boston Healthcare System
West Roxbury, Massachusetts, United States

Submitter(s)

TS

Trevor A. Shick, MD

Tufts Medical Center
jamaica Plain, Massachusetts, United States

Case Diagnosis: C2 AIS C nontraumatic spinal cord injury due to nerve overgrowth from hereditary motor sensory neuropathy

Case Description: 48 year old male with demyelinating hereditary motor sensory neuropathy, initially diagnosed via EMG/NCS in 2012. Genetic testing for known Charcot-Marie-Tooth (CMT) variants was indeterminate. Developed new foot drop and tumor-like lesion over the right eye in 2018. Surgical excision revealed reactive nerve growth with myxoid material. MRI brain and spine in 2020 demonstrated diffuse “nerve sheath tumors” along all spinal levels, with severe cord compression at C5-C6. C5-C7 laminectomy with fascicular biopsy confirmed similar nerve myxoid overgrowth without evidence of tumor. From 2020-2025, neurological function continued to decline and he was admitted to spinal cord injury (SCI) rehabilitation unit in April 2025. Updated imaging showed worsening intraspinal extension of the lesions with new T2 signal hyperintensity within the spinal cord correlating with new onset bowel and bladder incontinence. Following multiple goals-of-care discussions, he was discharged home with palliative support and later passed away.

Discussions: Hereditary motor sensory neuropathies (HMSNs) are the most common inherited peripheral neuropathies, affecting roughly 1 in 3,300 individuals worldwide. They typically present with distal muscle weakness, areflexia, and sensory deficits due to peripheral nerve degeneration. In this rare case, however, the neuropathy was associated with diffuse nerve root overgrowth, leading to severe spinal cord compression and nontraumatic SCI—a presentation not previously documented in the literature. This case highlights the potential for peripheral neuropathies to impact the central nervous system and underscores the importance of considering quality-of-life goals in complex progressive neuromuscular diseases.

Conclusions: Although typically a peripheral process, hereditary motor sensory neuropathy may, in rare cases, contribute to central nontraumatic spinal cord injury due to nerve overgrowth. This case expands the clinical spectrum of HMSN and emphasizes the need for multidisciplinary care and early palliative involvement in progressive neurodegenerative disease.