Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies

- Demyelinating hereditary and immune-mediated neuropathies show multifocal or generalized nerve enlargement.
- In MMN and MADSAM segmental nerve enlargement predominates, while it ranges from segmental to homogeneous in CIDP.
- Scoring tools help to operationalize standardized nerve ultrasound.

ObjectiveTo investigate the use of nerve ultrasound in the differentiation between Charcot-Marie Tooth hereditary neuropathy (CMT1) and chronic inflammatory demyelinating polyradiculoneuropathies (CIDP), multifocal motor neuropathy (MMN) and multifocal acquired demyelinating sensory and motor neuropathies (MADSAM).MethodsUltrasound/electrophysiology of predefined nerves was performed in CMT1a/b, immunoneuropathies, and healthy controls. Ultrasound pattern sum score (UPSS, sum of the amount of 12 predefined measurement points), homogeneity score (HS) and regional nerve enlargement index (RNEI) in ulnar, median, and tibial nerve were used for evaluation of morphology.Results13 CMT1, 27 CIDP, 10 MADSAM, 12 MMN, and 23 controls were included. Significant enlargement was shown in all neuropathies compared to the controls, (p < 0.001), however the amount of enlargement as evaluated by the UPSS was most prominent in CMT compared to the others (median UPSS 18 vs. 11/8.5/5 in CIDP/MADSAM/MMN, p < 0.001). Homogeneous enlargement was significantly more often seen in CMT (67%, HS 6 vs. 2-3 in immune-mediated PNP, p < 0.001), while in CIDP the enlargement was regional, homogeneous or inhomogeneous with equal contribution. In MMN and MADSAM regional enlargement (48%/40%) next to normal segments (∼20%) predominated (RNEI in MMN = 2, in MADSAM = 1 vs. 0 in the others). CSAs were inversely correlated with motor conduction velocity.ConclusionUltrasound, quantified by UPSS, HS, and RNEI facilitates a reliable and reproducible differentiation of immunoneuropathies and hereditary neuropathies by the use of boundary values.SignificanceBy the use of quantitative scores, ultrasound differentiation of demyelinating neuropathies is operationalized and ameliorated compared to CSA measurements only.