Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B.
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.
Department of Neurosurgery, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: T.P.C.vandoormaal@umcutrecht.nl.
Tristan P C
TP
van Doormaal
Clinical Genetics, Academic Medical Center, University of Amsterdam, The Netherlands.
Fred
F
van Ruissen
Department of Neurosurgery, Stanford University, Stanford, CA, USA.
Kai J
KJ
Miller
Department of Neurology, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Jessica E
JE
Hoogendijk
D000368:Aged; D001416:Back Pain / Q000209:etiology / Q000601:surgery; D002420:Cauda Equina / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery*; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics / Q000601:surgery*; D019299:Decompression, Surgical; D005260:Female; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000601:surgery; D008297:Male; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000235:genetics; D035781:Siblings
C560547:MPZ protein, human; D018993:Myelin P0 Protein
Charcot–Marie–Tooth; HMSN; Neurosurgery