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Refsum's disease is a rare autosomal recessive disorder with clinical features including retinitis pigmentosa, anosmia, deafness, chronic sensory-motor neuropathy, ataxia and the accumulation of phytanic acid in blood plasma and body tissues. We report the occurrence of Refsum's disease in two sisters, both presenting with acute demyelinating polyneuropathy mimicking the familial Guillain Barre syndrome. Thus, when GBS is suspected, particularly in cases of familial recurrence as well as in atypical cases of acute polyneuropathy, the diagnosis of Refsum's disease should be considered, looking for other features of the disease and, if appropriate, testing plasma phytanic acid levels.

Diagnosis of amyotrophic lateral sclerosis (ALS) is typically restricted to clinical and electromyographical upper motoneuron (UMN) and lower motoneuron (LMN) features. However, the initial presentation is sometimes misleading. These unusual presentations are discussed. They can delay the diagnosis of ALS.

Adverse effects of interferon (IFN) treatment are common, and efforts to minimize these reactions are of considerable importance. IFN-beta-1a is an established therapy for patients with relapsing-remitting multiple sclerosis (MS). Its psychiatric side effects are debated and not yet fully established. The authors report here the case of a patient on IFN-beta-1a therapy for MS who developed acute delirium, delusion, and depression that ceased with treatment discontinuation. Although he had a history of recurrent major depressive disorder, his prior psychiatric illness had followed a course that was clinically independent of other signs of MS. This observation points out psychiatric vulnerability of patients taking IFN-beta-1a therapy for MS and suggests that IFN-beta-1a may induce or exacerbate preexisting psychotic symptoms.

The transcranial Doppler 2 MHz test, a new non-invasive investigatory method, allows direct instantaneous recording from middle cerebral artery in 96% of healthy subjects and, in contrast to classical means of measuring cerebral blood flow, the possibility of continuous monitoring of middle cerebral artery in bedridden patients or during operation. This transcranial pulsed Doppler (T.P.D.) test was used to study the effect of a calcium inhibitor, Nifedipine, on middle cerebral artery smooth muscle and its cerebrovascular effects in 28 subjects: 8 cases of hypertension, 9 of sylvian artery stenosis confirmed by arteriography (5 approximately equal to 30% and 4 greater than or equal to 50%) and 11 healthy volunteers. Recording of middle cerebral artery flow by T.P.D. was preceded by cervicocephalic continuous emission Doppler exploration (DMS, MIRA 4 MHz) and vascular echotomography (Duplex Sonedap 10 MHz). Recordings from the first segment of middle cerebral artery were obtained from a low frequency (2 MHz) and high power (maximum 350 mW) probe introduced facing squamous portion of temporal bone. Identification of this artery is dependent on its depth of access--average 5 cm--its response to homolateral carotid artery compression and the convergence of its flux towards the probe. After sublingual absorption of 2 to 3 capsules of Nifedipine, systolic and diastolic blood pressure and systolic and diastolic frequencies of middle cerebral activity were recorded regularly over 20 minutes with the patient at rest in dorsal decubitus. Variations in these parameters were considered significant when 10% or more. Criteria proposed for identification of middle cerebral artery stenosis were segmental acceleration of 3 kHz or more with or without associated turbulence (fig. 2).(ABSTRACT TRUNCATED AT 250 WORDS)

The validity of transcranial Doppler (tD) was evaluated for the identification of stenoses of the middle cerebral artery (MCA). Twenty patients with atheromatous stenosis of the proximal MCA of more than 30% (3 of these cases with stenosis of more that 75%) had repeated transcranial Doppler between 1975 and 1987 and conventional angiography. No patient had carotid stenosis nor embolus-producing cardiopathy. Ten patients had had infarcts or transient ischemic attacks (symptomatic group). Ten patients were asymptomatic (asymptomatic group). Cerebral infarcts in the MCA territory occurred in 1 patient of each group and 1 additional patient in each group had an infarct in another territory. Follow-up was possible in 15 patients. The stenosis remained unchanged in 14, occlusion occurred in 1. The results of transcranial Doppler were compared to those of angiograms in this series and in an additional series of 40 patients who had had a normal angiogram. Sensitivity of transcranial Doppler was 60% (75% when stenosis was over 50%). Specificity was 95%. Comparison with angiography findings showed, among causes of failure of tD, analysis of the artery over too short a segment or kinked artery of very long stenoses, or too decreased blood flow. The failure rate of tD due to failure of bone penetration by ultrasounds was 5%. This new reproducible, non-invasive method appears to be able to detect MCA stenoses of 50% or more and help in follow-up.

Velocimetric exploration by continuous emission Doppler is still essential for non-invasive evaluation of vertebral circulation but it does not provide morphologic data. Results were compared of exploration with combined continuous emission Doppler and a Duplex examination (sectorial scanning ultrasound imaging coupled with pulsed emission Doppler) and data from arteriography of 186 vertebral arteries in patients, mean age 57 years, admitted for exploration of a cerebral ischemic accident or a cervical murmur. The Duplex examination allowed identification of proximal segment (VI) in 98% of permeable vertebral arteries. The ostium of the vertebral artery was more difficult to visualize because of possible tortuosities, of sometimes a too posterior or intrathoracic localization or of a short neck. Nevertheless the vertebral ostium was identified in 78% of cases on the right and 48% on the left. The Duplex examination demonstrated sensitivity of 72% and specificity of 98% for detection of proximal stenosis of vertebral artery, and its sensitivity was therefore twice as sensitive as continuous emission Doppler for detection of stenoses of less than 50%. The Duplex examination should complete data from continuous emission Doppler by providing an evaluation of vertebral artery diameter and information on presence and characters of an elongation or stenosis. In this way, 9 atheromatous plaques not identified on arteriography were detected by ultrasound imaging. Similarly, the Duplex examination is particularly useful for identification of a hypoplastic vertebral artery, to distinguish the specific lesions of the subclavian artery from those extending onto vertebral ostium, and to characterize ostial lesions when these are accessible to examination.(ABSTRACT TRUNCATED AT 250 WORDS)

Transcranial Doppler sonography, using a 2 MHz pulsed Doppler system, is suitable for non-invasive continuous monitoring of middle cerebral artery blood flow velocity during pharmacological studies. Methodological problems, and factors affecting cerebral blood flow have to be discussed (vasomotor spontaneous changes, intracranial blood pressure, blood viscosity, heart rate, vascular risk factors, etc.). Arguing from a previous study in 28 subjects (11 healthy volunteers, 8 hypertensive patients, 9 patients with middle cerebral artery stenosis), showing the hypotensive action of Nifedipine, without significant decrease of cerebral blood flow in 83% of cases, we emphasize the advantages and limits of this new non-invasive method for cerebral blood flow monitoring.