[Acute polyradiculoneuritis and Lyme disease]. / Polyradiculonévrite aiguë et maladie de Lyme.

A thirty-three-year-old patient developed polyradiculoneuritis with several post-therapeutic relapses despite excellent response to treatment by intravenous polyvalent gammaglobulin. After the second relapse, positive titres for Borrelia burgdorferi were found in serum and C.S.F. We gave her intravenous antibiotic and clinical signs and electrophysiological data improved. Our report and the literature can distinguish two clinical and electrophysiological presentations of neurological peripheral involvement in Lyme disease: meningoradiculoneuritis with axonal involvement and polyradiculoneuritis with demyelinization.

[Marchiafava-Bignami disease. 3 cases with favorable prognosis]. / La maladie de Marchiafava-Bignami. Trois observations d'évolution favorable.

INTRODUCTION: Marchiafava-Bignami disease is a complication of chronic alcoholism, with acute or subacute demyelination of the corpus callosum. Although subacute and benign forms of the disease have been described since the development of CT scan and MRI, it has usually a poor prognosis. EXEGESIS: We report three cases of Marchiafava-Bignami disease with favorable outcome. One of the patient was comatose upon hospital admission. Interhemispheric dysconnection syndrome was evidenced in two patients. CT scan and MRI showed lesions extending to the callosal white matter in these patients. CONCLUSION: Potential existence of Marchiafava-Bignami disease should be investigated in patients presenting with chronic alcoholism and mental confusion. However, accompanying coma and white matter demyelination should not necessarily be considered of poor prognosis. Clinical evaluation of interhemispheric dysconnection is of value in patients presenting with chronic alcoholism and mental confusion.

[Acute encephalitis concurrent with primary infection by Schistosoma mansoni]. / Encéphalite aiguë contemporaine d'une primo-invasion bilharzienne à Schistosoma mansoni.

A 24-year-old man returning from a trip to Mali was hospitalized for acute encephalitis and fever in association with acute primary infection by Schistosomiasis mansoni. Bilharziasis was suspected from the epidemiological context and presence of eosinophilia. Diagnosis was confirmed by serological testing. Specific treatment using praziquantel and corticotherapy was successful. Central nervous system involvement attributable to embolization of eggs or ectopic migration of adult worms has been reported in association with chronic Schistosomiasis by S. japonicum or S. mansoni. There have been few reports of acute neuroschistosomiais during the acute primary phase of infestation by S. mansoni. Etiology probably involves immunoallergic mechanisms.

Natalizumab and drug holiday in clinical practice: an observational study in very active relapsing remitting multiple sclerosis patients.

BACKGROUND: In order to reduce the risk of progressive multifocal leucoencephalopathy when using natalizumab for more than 12 months, a 6-month drug holiday has been discussed. However, the consequences on short term disease activity have been poorly assessed. OBJECTIVE: The aim of this study was to assess clinical and radiological disease activity within 6 months after stopping natalizumab in very active relapsing remitting Multiple Sclerosis (RRMS) patients. METHODS: In 8 hospitals from Western France, we retrospectively collected clinical and MRI data from consecutive RRMS patients treated with natalizumab for at least 6 months, and who stopped the drug for various reasons except therapeutic failure. Patients didn't receive any other disease modifying treatment after discontinuing natalizumab. RESULTS: A total of 27 patients with very active RRMS before natalizumab start (mean annualized relapse rate of 2.3, MRI activity in 21 of 27 patients) were studied. Within 6 months after discontinuing natalizumab, 18 patients (67%) experienced clinical relapse and 3 additional patients had radiological activity, without clinical relapse. Four patients (15%) experienced a rebound activity, with severe relapse and 20 or more gadolinium enhancing lesions on MRI. CONCLUSION: Such observational data didn't support the concept of drug holiday when using natalizumab in very active RRMS.

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of the patients, presently 30 years old, showed only Argyll Robertson-like pupils as an objective sign but no clinical or electrophysiological signs of peripheral neuropathy.

Antidiuretic hormone response to osmotic stimulus under fentanyl anaesthesia.

The effect of fentanyl anaesthesia on the plasma antidiuretic hormone (ADH) response to osmotic stimulus was studied in eight patients. Eight g (137 mmol) NaCl were rapidly injected intravenously the day before anaesthesia and blood samples were collected 5, 10, 20 and 30 min after the injection. This protocol was repeated in the same subjects, under anaesthesia with thiopental, nitrous oxide and fentanyl before surgical incision. Plasma ADH markedly increased after NaCl administration and was significantly correlated with plasma sodium (r = 0.67, P less than 0.005) when the patients were awake, whereas it did not change over 30 min and was not correlated with plasma sodium (r = 0.18, P greater than 0.05) under fentanyl anaesthesia. This inhibitory effect of anaesthesia occurred in spite of a significant fall in the mean arterial pressure during the study. In order to eliminate the role of overnight fasting, premedication and fluid load, the same protocol was performed in six control patients who were fasted overnight, premedicated and fluid loaded. These results demonstrate that fentanyl anaesthesia abolishes the plasma ADH response to both osmotic and low arterial pressure stimuli.

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.

Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17p11.2 (CMT 1a). Micromutations were found in the gene for peripheral myelin protein 22 (PMP22) located in the duplicated region of CMT 1a, and in the peripheral myelin protein zero (PO) located on chromosome 1q21-q23 (CMT 1b). We have characterized two new mutations in the PO gene in two french families presenting CMT disease. Both mutations occur in the extracellular domain of the PO protein. One mutation is a de novo mutation and is from paternal origin.