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Involvement of sensory nerves in Charcot-Marie-Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neuro- physiological, and genetic features and classified in CMT type 1 (CMT1) (20 patients, including 14 with CMT1A) and CMT type 2 (CMT2) (32 patients). Positive sensory symp- toms were reported by 28 patients (54%), including neuropathic pain in 6 patients. Pain, either neuropathic or nociceptive, was present in 29 patients (56%) and in 15 patients as a main symptom. Positive sensory symptoms were present in 24 of 32 CMT2 patients (75%) and in 4 of 20 CMT1 patients (20%) (p

Nerve injuries associated with surgical operations are well recognized and described in literature. Ulnar neuropathy, brachial plexus, and lumbosacral roots injuries are the most frequent as shown by two large reviews on anesthesia-related nerve damage from the American Society of Anesthesiologists closed claims study (Kroll DA 1990, Cheney FW 1999). Several factors such as section, compression, traction, and ischemia, contribute to the nerve injuries but the exact mechanism(s) in an individual case often is unclear. We describe a case of perioperative bilateral median neuropathy at the distal forearm, an uncommon site of nerve injury, which we ascribe to demyelinative conduction block secondary to nerve compression. Nerve conduction studies precisely localized the area of abnormality. There is a limited understanding of the relationships between conventional perioperative care and the genesis of peripheral nerve lesions. As a result, there is a lack of agreement in literature on the correct standards for positioning the patient during anesthesia. In selected cases nerve conduction studies at the onset of symptoms may provide insights into localization, mechanism and prognosis of nerve lesions. We believe that a timely and proper electrophysiological study may be helpful for understanding the perioperative nerve injuries as well as for determining the best preventive strategies.

Cryoglobulinemic neuropathy is probably the commonest form of vasculitic neuropathy in Mediterranean countries, as usually related to the widespread hepatitis C virus (HCV) infection. We describe the spectrum of manifestations in a large series of patients with cryoglobulinemic neuropathy, also analyzing the impact of comorbid factors, which are quite frequent in HCV-related mixed cryoglobulinemia. The cohort included 60 patients (10 men, 50 women) with peripheral neuropathy associated with mixed cryoglobulinemia as main or sole cause (type 2 in 36 cases, type 3 in 4, not typized in 20), HCV-related in all patients but 8 (3 men and 5 women). Median age of patients was 65 years (range 41–85), and median age at onset of neuropathy was 59 (range 40–84). Peripheral neuropathy represented an onset manifestation of mixed cryoglobulinemia in about half patients. The most frequent clinical pattern was pure sensory neuropathy in 40 patients, including 4 patients with prominent ataxia; sensory neuropathy was asymmetrical in distribution in 9 patients, and in 14 patients sensory action potentials (SAPs) of the sural nerve were normal, suggesting selective involvement of the small sensory fibers. The remaining patients had sensorimotor neuropathy (15 cases) and mononeuropathy multiplex (5 cases). Positive sensory symptoms and restless legs syndrome were the most common manifestations. Neurophysiological study showed axonal degeneration of varying severity in all patients. In 20 patients, additional causes of neuropathy were present, including type 2 diabetes (5 patients), glucose intolerance (6 patients), non-Hodgkin lymphoma (3 patients), and alcohol (2 patients). With respect with this subset of patients, in “pure” cryoglobulinemic neuropathy there was more often a pattern of sensory neuropathy (31/40 vs. 6/20; p = 0.001), with more frequent asymmetrical distribution (9 vs 0; p = 0.05) and small fiber involvement (11 vs 3). Severity of neuropathy, as judged on the basis of the Rankin scale and of neurophysiological changes, was similar in the two subgroups. Our study confirms that sensory neuropathy, often asymmetrical, is the most common clinical pattern in cryoglobulinemic neuropathy, and is consistently present in pure cryoglobulinemic neuropathy rather than in patients with other associated causes of neuropathy; in these latter, paradoxically, clinical and neurophysiological impairment seems not greater than in pure cryoglobulinemic neuropathy.

Restless legs syndrome (RLS) is increasingly recognized as a manifestation of various forms of peripheral neuropathy, and in particular in association with amyloidosis, uremia, diabetes, cryoglobulinemia, and Charcot-Marie-Tooth disease type 2. A previous study demonstrated a 5% prevalence of RLS in unselected neuropathies, but did not elucidate factors influencing the occurrence, or not, of RLS in peripheral neuropathy. We studied a series of unselected neuropathic patients to assess the prevalence of RLS, and to define the features of peripheral neuropathy associated with RLS. In a population of 70 consecutive patients with various forms of peripheral neuropathy (polyneuropathy in 65 cases, multiple mononeuropathy in 5 cases) we found RLS in 20 cases (28.6%). In particular, RLS was more often associated with cryoglubolinemic neuropathy (5/13), diabetic neuropathy (4/12), Charcot-Marie-Tooth disease (4/18), and chronic idiopathic axonal polyneuropathy (2/6). RLS was usually associated with a neuropathy of axonal type, and the onset of RLS was 0–10 (median 1) years after the onset of neuropathy; in 9 cases, RLS was an initial manifestation of neuropathy. Patients with pure sensory or mainly sensory neuropathy had RLS more often than patients with other patterns of neuropathy (13/37 vs. 7/33). Severity of neuropathy, as judged by Rankin score, did not differ in patients with or without RLS (13/20 with Rankin grade 2 or more, vs. 36/50). Prevalence of RLS in our population of neuropathic patients was higher than previously reported. Thus RLS may be viewed as a quite common manifestation of peripheral neuropathy in general, although more common in some forms, and it represents a treatable neuropathic symptom. Mechanisms of RLS are elusive, however a role of sensory inputs is supported by its greater incidence in association with sensory neuropathies.

The assessment of severity of polyneuropathy is usually based on the findings of neurological and electrophysiological examination, which however do not reflect overall function. Health-related quality of life (HRQOL) measurements aim to measure the impact of a disease on the daily life of a patient, and are expecially useful in chronic diseases, however are seldom used in neuromuscular diseases. It was previously reported that HRQOL assessment may be useful in diabetic neuropathy, chronic idiopathic axonal polyneuropathy, and Charcot-Marie-Tooth disease. The aim of this study was to determine whether HRQOL is reduced in cryoglobulinemic polyneuropathy, and whether its measurements add useful information to the assessment of severity of polyneuropathy. We studied 12 patients (10 females, 2 males) with symptomatic cryoglobulinemic neuropathy (HCV-related in all patients but 1), confirmed by neurophysiological study, and 10 non-neuropathic patients (4 females, 6 males) with HCV-related mixed cryoglobulinemia. HRQOL was assessed using the self-administered 36-item Short Form Health Survey Questionnaire (SF-36). The neuropathy patients had lower scores (impaired HRQOL) than the other cryoglobulinemic patients on “physical functioning”, “pain”, and “vitality.” Both neuropathic and non-neuropathic patients with cryoglobulinemia rated worse than the reference population on “role limitation due to physical problems” and “general health perception.” We conclude that the severity of neuropathy may be measured with a general HRQOL instrument, which provides additional information about the impact of the disease on the general functioning of the patient, and it may be useful in rehabilitation and counseling of neuropathic patients.