Efficient cauda equina decompression in two siblings with Charcot-Marie-Tooth illness kind 1B.
Neuromuscul Disord. 2016 Dec;26(12):837-840
Authors: van Doormaal TP, van Ruissen F, Miller KJ, Hoogendijk JE
Two siblings with Charcot-Marie-Tooth (CMT) 1B as a result of a c.517G>C (p.Gly173Arg) mutation within the MPZ gene each developed an acute cauda syndrome with insufferable again ache radiating to each legs, progressive muscle weak spot of the legs, and saddle hypesthesia with fecal and urinary incontinence. MRI confirmed in each sufferers a lumbar spinal canal completely full of hypertrophic caudal nerve roots. We carried out acute decompression. Postoperatively, in each sufferers, the again ache resolved instantly, there was a major enchancment of each the paresis of the legs and the hypesthesia, and there was a full return of continence. There was no recurrence of acute signs throughout respectively 19 years and 1.5 years of follow-up. We conclude that in sufferers with CMT and a associated cauda syndrome due to hypertrophic caudal nerve roots, acute decompression might be an efficient and protected remedy with long-term efficacy.
PMID: 27614573 [PubMed – indexed for MEDLINE]