Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B
Tristan P C van Doormaal1, Fred van Ruissen2, Kai J Miller3
1Department of Neurosurgery, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Neuromuscular Disorders : NMD
|September 12, 2016
Summary
Charcot-Marie-Tooth (CMT) patients experiencing cauda equina syndrome due to hypertrophic nerve roots can benefit from prompt surgical decompression. This effective treatment offers long-term relief from pain, weakness, and incontinence.
Area of Science:
- Neurology
- Genetics
- Neurosurgery
Background:
- Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies.
- CMT type 1B is associated with mutations in the MPZ gene.
- Cauda equina syndrome can present as a rare complication in CMT.
Observation:
- Two siblings with CMT1B (MPZ gene mutation c.517G>C) developed acute cauda equina syndrome.
- Symptoms included severe back pain, leg weakness, saddle anesthesia, and incontinence.
- MRI revealed lumbar spinal canal obstruction by hypertrophic caudal nerve roots.
Findings:
- Acute surgical decompression was performed on both siblings.
- Postoperatively, immediate resolution of back pain occurred.
- Significant improvement in leg paresis, sensory deficits, and urinary/fecal continence was observed.
- No recurrence of symptoms was noted during long-term follow-up (19 years and 1.5 years).
Implications:
- Acute decompression is a safe and effective treatment for CMT-related cauda equina syndrome.
- The procedure demonstrates long-term efficacy in managing this rare complication.
- Highlights the importance of considering surgical intervention for hypertrophic nerve root compression in CMT patients.
