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

OBJECTIVE: To 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). METHODS: Ultrasound/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. RESULTS: 13 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. CONCLUSION: Ultrasound, quantified by UPSS, HS, and RNEI facilitates a reliable and reproducible differentiation of immunoneuropathies and hereditary neuropathies by the use of boundary values. SIGNIFICANCE: By the use of quantitative scores, ultrasound differentiation of demyelinating neuropathies is operationalized and ameliorated compared to CSA measurements only.

The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies.

The objective of this study is to evaluate the nerve ultrasound characteristics in genetically distinct inherited neuropathies, the value of the modified ultrasound pattern sum score (mUPSS) to differentiate between the subtypes and the correlation of ultrasound with nerve conduction studies (NCS), disease duration and severity. All patients underwent a standardized neurological examination, ultrasound, and NCS. In addition, genetic testing was performed. Consequently, mUPSS was applied, which is a sum-score of cross-sectional areas (CSA) at predefined anatomical points in different nerves. 31 patients were included (10xCharcot-Marie-Tooth (CMT)1a, 3xCMT1b, 3xCMTX, 9xCMT2, 6xHNPP [Hereditary neuropathy with liability to pressure palsies]). Generalized, homogeneous nerve enlargement and significantly increased UPS scores emphasized the diagnosis of demyelinating neuropathy, particularly CMT1a and CMT1b. The amount of enlargement did not depend on disease duration, symptom severity, height and weight. In CMTX the nerves were enlarged, as well, however, only in the roots and lower limbs, most prominent in men. In CMT2 no significant enlargement was detectable. In HNPP the CSA values were increased at entrapped sites, and not elsewhere. However, a distinction from CMT1, which also showed enlarged CSA values at entrapment sites, was only possible by calculating the entrapment ratios and entrapment score. The mUPSS allowed distinction between CMT1a (increased UPS scores, entrapment ratios <1.0) and HNPP (low UPS scores, entrapment ratios >1.4), while CMT1b and CMTX showed intermediate UPS types and entrapment ratios <1.0. Although based on few cases, ultrasound revealed consistent and homogeneous nerve alteration in certain inherited neuropathies. The modified UPSS is a quantitative tool, which may provide useful information for diagnosis, differentiation and follow-up evaluation in addition to NCS and molecular testing.

Testing cranial nerve VII: It is all in the wording.

During our practice of clinical neurological examination we frequently observed that patients, upon testing of cranial nerve VII, when instructed to "wrinkle their forehead" (to evaluate the innervation of the M. frontalis), seem to falsely "frown" (i.e. innervate the corrugator supercilii). Here, we set out to prospectively evaluate prevalence and characteristics of this phenomenon. Using a semi-structured questionnaire, we show that the majority of colleagues at our center shared our observation. Further, we demonstrate that of 113 unselected prospectively examined patients in fact 54.9% showed false frowning. This effect was irrespective of gender and only marginally influenced by age, chief complaint and clinical setting. Of note, all patients with initial frowning (or other "incorrect" reaction), when instructed to "raise their eye-brows", showed correct wrinkling. In summary, we were able to prospectively assess a highly prevalent artifact of the clinical exam, highlighting the critical significance of the correct wording during the neurological exam.