Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study.

BACKGROUND AND PURPOSE: Sensory neuronopathy is a cardinal feature of cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS). Having observed that two patients with CANVAS had small median and ulnar nerves on ultrasound, we set out to examine this finding systematically in a cohort of patients with CANVAS, and compare them with both healthy controls and a cohort of patients with axonal neuropathy. We have previously reported preliminary findings in seven of these patients with CANVAS and seven healthy controls. METHODS: We compared the ultrasound cross-sectional area of median, ulnar, sural and tibial nerves of 14 patients with CANVAS with 14 healthy controls and 14 age- and gender-matched patients with acquired primarily axonal neuropathy. We also compared the individual nerve cross-sectional areas of patients with CANVAS and neuropathy with the reference values of our laboratory control population. RESULTS: The nerve cross-sectional area of patients with CANVAS was smaller than that of both the healthy controls and the neuropathy controls, with highly significant differences at most sites (P < 0.001). Conversely, the nerve cross-sectional areas in the upper limb were larger in neuropathy controls than healthy controls (P < 0.05). On individual analysis, the ultrasound abnormality was sufficiently characteristic to be detected in all but one patient with CANVAS. DISCUSSION: Small nerves in CANVAS probably reflect nerve thinning from loss of axons due to ganglion cell loss. This is distinct from the ultrasound findings in axonal neuropathy, in which nerve size was either normal or enlarged. Our findings indicate a diagnostic role for ultrasound in CANVAS sensory neuronopathy and in differentiating neuronopathy from neuropathy.

Bibrachial amyotrophy and ventral spinal cyst associated with myelomalacia and intracranial hypertension.

It has been recently recognised that patients with ventral intraspinal fluid collections secondary to cerebrospinal fluid leaks can present with bibrachial amyotrophy or mimic Hirayama disease. Here we present two further patients that expand the clinical spectrum of this disorder to include association with myelomalacia and intracranial hypertension.

Medically refractory neurosarcoidosis treated with infliximab.

Neurosarcoidosis can worsen despite standard immunosuppressive therapy, a situation for which there is no established medical management. We present three cases of medically refractory neurosarcoidosis treated with infliximab. All three patients showed a clinical response to this treatment and side effects were limited. A summary of reported cases of neurosarcoidosis treated with infliximab is included. This case series supports a role for infliximab in the treatment of patients with medically refractory neurosarcoidosis.

Neurological complication analysis of 1000 ultrasound guided peripheral nerve blocks for elective orthopaedic surgery: a prospective study.

Little data exists regarding the frequency of neurological complications following ultrasound guided peripheral nerve blockade. Therefore, we studied single injection and continuous ultrasound guided interscalene, supraclavicular, infraclavicular, femoral and sciatic nerve blocks in patients undergoing orthopaedic extremity surgery. All patients were contacted during postoperative weeks 2-4 and questioned for numbness or altered sensation anywhere in the involved extremity, and pain or weakness unrelated to surgery. The presumed aetiology of symptoms was based on the collective agreement of principal investigator, primary surgeon and a neurologist. Multivariate analysis was performed for characteristics potentially important in the causation of neurological complications. Of 1010 consecutive blocks, successful follow up between weeks 2 and 4 occurred in 98.6%. New, all-cause, neurological symptoms were present in 56/690 blocks (8.2%) at day 10, 37/1010 (3.7%) at 1 month and 6/1010 (0.6%) at 6 months. Most symptoms were due to causes unrelated to the block. Of 452 patients directly questioned at the time of the block, new neurological symptoms were more common in patients who experienced procedure-induced paraesthesia (odds ratio = 1.7, p = 0.029). The postoperative neurological symptom rate in this series is very similar to those previously reported following traditional techniques.

Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.

BACKGROUND: Mutations of myelin protein zero (MPZ) may cause inherited neuropathy with variable expression. OBJECTIVE: To report phenotypic variability in a large American kindred with MPZ mutation His39Pro. PATIENTS: Genetic testing was performed on 77 family members and 200 controls. Clinical and electrophysiological field study assessments were available for review in 47 family members. RESULTS: His39Pro was found in all 10 individuals prospectively identified with neuropathy. 200 normal controls were without mutation. Symptoms of neuropathy began in adulthood and were slowly progressive except for one acute-onset painful sensory neuropathy. Associated features included premature hearing loss (n = 7), nocturnal restless leg symptoms (n = 8) and multiple sclerosis in one. CONCLUSIONS: MPZ mutation His39Pro may be associated with acute-onset neuropathy, early-onset hearing loss and restless legs. The relationship with multiple sclerosis in the proband remains uncertain.

Pulsed methylprednisolone is a safe and effective treatment for diabetic amyotrophy.

There is evidence that diabetic amyotrophy is caused by a microvasculitis of the vasa nervorum. We compared the outcome of patients treated with pulsed methylprednisolone to the published natural history of diabetic amyotrophy and assessed the safety of this treatment in patients with diabetes. We retrospectively reviewed the case records of 10 episodes of diabetic amyotrophy in 9 patients treated with pulsed oral or intravenous methylprednisolone. In 6 episodes there was marked improvement in pain within days of starting treatment. Strength improved more slowly but faster than the natural history of the disease. Treatment started within 2 months of symptom onset was associated with rapid improvement in pain; and very early treatment, started within 4 weeks of symptom onset, resulted in rapid improvement of both strength and pain. Blood glucose increased on treatment days but no patient required lasting changes in diabetic treatment as the result of this therapy and no other serious adverse effects were seen. We conclude that pulsed methylprednisolone appears to be a safe and effective treatment for diabetic amyotrophy.