Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B

Neuromuscul Disord. 2016 Dec;26(12):837-840. doi: 10.1016/j.nmd.2016.08.010. Epub 2016 Aug 22.


Two siblings with Charcot-Marie-Tooth (CMT) 1B due to a c.517G>C (p.Gly173Arg) mutation in the MPZ gene both developed an acute cauda syndrome with unbearable back pain radiating to both legs, progressive muscle weakness of the legs, and saddle hypesthesia with fecal and urinary incontinence. MRI showed in both patients a lumbar spinal canal totally filled with hypertrophic caudal nerve roots. We performed acute decompression. Postoperatively, in both patients, the back pain resolved immediately, there was a significant improvement of both the paresis of the legs and the hypesthesia, and there was a full return of continence. There was no recurrence of acute symptoms during respectively 19 years and 1.5 years of follow-up. We conclude that in patients with CMT and a related cauda syndrome because of hypertrophic caudal nerve roots, acute decompression can be an effective and safe treatment with long-term efficacy.

Keywords: Charcot–Marie–Tooth; HMSN; Neurosurgery.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Back Pain / etiology
  • Back Pain / surgery
  • Cauda Equina / diagnostic imaging
  • Cauda Equina / pathology
  • Cauda Equina / surgery*
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / surgery*
  • Decompression, Surgical*
  • Female
  • Humans
  • Lumbar Vertebrae / diagnostic imaging
  • Lumbar Vertebrae / surgery
  • Male
  • Middle Aged
  • Myelin P0 Protein / genetics
  • Siblings


  • MPZ protein, human
  • Myelin P0 Protein