Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome.

Brown-Vialetto-Van Laere syndrome is a rare disease of unknown origin commonly considered as part of the large group of motor neuron diseases. The course is quite variable: it may be quickly fatal or protracted, with relapsing phases followed by periods of arrest and even partial improvement. We describe a case of Brown-Vialetto-Van Laere syndrome with strong family history for sensorineural hearing impairment. The patient came to our medical attention for severe respiratory failure and leg weakness. The clinical conditions partially improved with recovery of spontaneous respiration and mild increase in muscle strength. The neurophysiological studies performed on our patient showed evidence of nerve damage with subsequent improvement. Our study raises the possibility that the disorder is due to primary nerve damage, which can better justify the intermittent course of the disease, the partial clinical regression and the neurophysiological improvement, never detected in typical motor neuron disorders.

Plasma-exchange in chronic peripheral neurological disorders.

We investigated 19 patients affected by chronic peripheral neurological disorders treated with therapeutic plasma exchange (TPE) to verify the efficacy of the therapeutic protocol used in these diseases. Every patient was clinically considered after 5 TPE. Those who showed an improvement started chemotherapy and continued TPE at the rate of 2 procedures/week for 2 weeks, then 1 procedure/week for 1 month and finally 1 procedure every 2 weeks for 2 months. Intravenous immunoglobulins (IVIg) were infused at the end of apheretic treatment in one of the patients affected by neurological disorders due to monoclonal gammopathy undetermined significance. HCV-positive patients with cryoglobulins were treated with alpha-interferon (alpha-IFN) for 6 months before TPE. Eleven patients (58%) had a symptomatic improvement, 2 (1.5%) stopped TPE treatment owing to side effects and 6 (31.5%) did not respond to apheretic therapy. In order to improve the advantages of TPE we suggest using IVIg at the end of apheretic therapy, while in HCV-positive patients, at least one year of alpha-IFN therapy is required before initiating TPE.