Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

Kim MaincentEmail author,
Bénédicte Héron,
Thierry Billette de Villemeur and
Michèle Mayer

Orphanet Journal of Rare Diseases201813:209

https://doi.org/10.1186/s13023-018-0937-9

Received: 6 June 2018
Accepted: 17 October 2018
Published: 21 November 2018

Abstract

Background

Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients, clinical symptoms of CTS usually appear at a late stage of median nerve compression. Relying on CTS symptoms is often too late and there is a risk of axonal damage and further irreversible sequelae. Electroneurography is a powerful technique to detect the initial preclinical signs of median nerve compression. In a retrospective series of 13 children with mucopolysaccharidoses (10 Hunter, one Hurler-Scheie and 2 Hurler children), we describe the electroneurography progression of CTS (43 hand evaluations) and the severity of median nerve damage.

Results

The average age at mucopolysaccharidoses diagnosis was 33.6 months (11–66 months). Clinical signs of CTS appeared on average 44.6 months (0–73 months) after diagnosis of mucopolysaccharidoses. Electroneurography anomalies suggestive of CTS appeared as early as the age of 3.5 years and probably preceded clinical signs of CTS. Median nerve compression was bilateral and distal, initially on the sensory pathway then becoming motor-sensory. Beyond a threshold of 14 m/sec median distal motor nerve conduction velocity (MNCVd) and index of terminal latency (MNCVd/MNCVp) of 0.27, there was true distal conduction slowdown.

Conclusions

To prevent irreversible sequelae of median nerve compression, we suggest annual electroneurography testing for mucopolysaccharidoses patients starting as early as 3 years of age, including both motor and sensory nerve pathways, on median and, in reference to the ulnar nerves, bilaterally at the wrist and the elbow. Timely surgical intervention can greatly improve the overall function and quality of life of these patients.