Stiff-man syndrome with spinal cord lesion

Area of Science:

• Neurology
• Pathology

Background:

• Stiff-man syndrome (SMS) is a rare neurological disorder characterized by muscle rigidity and spasms.
• The condition's etiology and precise pathological correlates remain incompletely understood.

Observation:

• A 54-year-old male patient presented with a three-year history of fluctuating rigidity and tonic spasms.
• Symptoms were triggered by emotional stress, voiding strain, and external stimuli.
• Physical examination revealed generalized stiffness, hyperactive deep tendon reflexes, and normal sensation.

Findings:

• Electromyography (EMG) demonstrated continuous motor unit activity in affected muscles, responsive to myoneural blockade, spinal anesthesia, diazepam, and sleep.
• Diazepam provided temporary symptom relief but was followed by respiratory arrest.
• Autopsy revealed loss of nerve cells and gliosis in the anterior horn medial motor nuclei.
• Notably, symmetric degeneration in the bilateral anterior columns of the spinal cord was observed, a finding not previously reported in SMS.

Implications:

• This case highlights potential novel spinal cord pathologies in stiff-man syndrome.
• The observed anterior column degeneration may offer new insights into SMS pathophysiology.
• Further research is warranted to elucidate the role of these lesions in SMS progression and clinical manifestations.