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

Tristan P. C. van Doormaal; Fred van Ruissen; Kai J. Miller; Jessica E. Hoogendijk

doi:https://doi.org/10.1016/j.nmd.2016.08.010

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

Tristan P. C. van Doormaal, Fred van Ruissen, Kai J. Miller, Jessica E. Hoogendijk

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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

Original language	English
Pages (from-to)	837-840
Journal	Neuromuscular disorders
Volume	26
Issue number	12
Early online date	2016
DOIs	https://doi.org/10.1016/j.nmd.2016.08.010
Publication status	Published - 2016

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https://doi.org/10.1016/j.nmd.2016.08.010

Cite this

@article{cb9d594bcc9c47a7864e7c314dbc9707,

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

abstract = "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",

author = "{van Doormaal}, {Tristan P. C.} and {van Ruissen}, Fred and Miller, {Kai J.} and Hoogendijk, {Jessica E.}",

year = "2016",

doi = "https://doi.org/10.1016/j.nmd.2016.08.010",

language = "English",

volume = "26",

pages = "837--840",

journal = "Neuromuscular disorders",

issn = "0960-8966",

publisher = "Elsevier Limited",

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TY - JOUR

T1 - Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B

AU - van Doormaal, Tristan P. C.

AU - van Ruissen, Fred

AU - Miller, Kai J.

AU - Hoogendijk, Jessica E.

PY - 2016

Y1 - 2016

N2 - 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

AB - 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

U2 - https://doi.org/10.1016/j.nmd.2016.08.010

DO - https://doi.org/10.1016/j.nmd.2016.08.010

M3 - Article

C2 - 27614573

SN - 0960-8966

VL - 26

SP - 837

EP - 840

JO - Neuromuscular disorders

JF - Neuromuscular disorders

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