Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis

Aim: Mucopolysaccharidoses (MPS) are a group of diseases with an almost 100% lifetime incidence of carpal tunnel syndrome (CTS) in MPSsubtypes I, II, and VI. We compared nerve ultrasound with clinical signs and electrophysiology in a clinical setting to screen for CTSin MPS. Method: Twenty-four patients (13 male, 11 female, mean age of 7y 11mo [SD8y 5mo], range 6mo–29y) were screened for CTS. Eight of these patients were re-examined post-operatively. Clinical signs, distal motor latency, compound muscle action potential, sensory nerve action potential amplitude and velocity, as well as echogenicity and the cross-sectional area (CSA) of the median nerve at the wrist and forearm determined with ultrasound were assessed and the wrist to forearm ratio (WFR) calculated. Eighteen healthy participants formed a comparison group, who were also investigated with nerve ultrasound. Results: In 26% of the patients' hands, clinical signs of CTSwere present; 77% fulfilled electrophysiological and 92% nerve ultrasound criteria for CTS. Post-operatively, electrophysiology improved significantly, whereas ultrasound results were unchanged. In the comparison group, age and height correlated with the CSA, but not with WFR. Interpretation: Nerve ultrasound is a useful and painless primary screening tool for CTSin MPS.