Clinical callosum syndrome in a case of multiple sclerosis.

This case report confirms that a clinical callosal disconnection could be observed in multiple sclerosis. Moreover, this case describes a new kind of strange manual behavior related to callosal disconnection. This behavior could neither be considered as a diagonistic dyspraxia nor as an alien hand, but they evoke rather a conflict of intentions.

CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.

Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.

[Angioplasty of atheromatous hemodynamic stenoses of intracranial vertebral arteries]. / Angioplastie de sténoses athéromateuses hémodynamiques des artères vertébrales intracrâniennes.

We describe three patients presenting transient ischemic attacks or minor stroke, relapsing despite anticoagulation and antiplatelet therapy, in relation to tight stenosis of the intracranial vertebral arteries, without functional communicating arteries. Percutaneous transluminal angioplasty was successfully performed. We have a 6, 24 and 36 months follow-up. After a review of the literature, we discuss indication and risks of this procedure.

[Transient neurological manifestations disclosing spontaneous acute cervical epidural hematoma]. / Manifestations neurologiques transitoires révélatrices d'hématomes épiduraux cervicaux aigus spontanés.

Spontaneous cervical epidural hematomas are uncommon lesions that usually produce permanent neurological deficit unless there is early surgical decompression. They are now well-recognized by scan X and especially by sagittal MRI of the spine. We describe 2 patients, a 24 year-old man and a 79 year-old woman with no previous history of trauma who were admitted in emergency for a sudden weakness of limbs, respectively a tetraplegia and a right hemiplegia. Both patients complained of inaugural and acute neck pain. Motor deficit completely resolved in few hours and MRI of the spine showed on T1 a signal isointense, extending respectively from C3 to C6 and C5 to C7, consistent with an hematoma. Laboratory data and angiography were normal. Surgery was recused. Neck pain lasted about a week. Follow-up MRI, in one case, was normal two months later. Cervical epidural hematomas revealed by transient neurological findings that completely and permanently resolved are exceptional. They could mimic ischemic myelopathy and should be considered in the differential diagnosis of other painful vascular conditions like symptomatic vertebral dissection to avoid inappropriate anticoagulation. Conservative management in these cases may be proposed if spontaneous neurological resolution is confirmed by MRI.

Cerebral postischemic hyperperfusion assessed by Xenon-133 SPECT.

UNLABELLED: In this study, the functional and clinical evolution of the cerebral postischemic hyperperfusion (CPH) were evaluated. METHODS: Forty-four noncomatose patients suffering from unilateral cerebral ischemia located in the internal carotid territories were studied. Twenty-five consecutive patients having CPH with 133Xe-SPECT cerebral blood flow (CBF) measurement and 19 patients without cerebral hyperperfusion matched for age. CBF, vasoreactivity to acetazolamide and the evolution of the clinical state, scored by the National Institutes of Health scale for stroke, were compared. RESULTS: CPH coincided with CT-scan abnormalities in 57% of cases. The mean cerebral vasoreactivity to acetazolamide was comparable in the two groups, but there was local vasoplegia in the hyperperfused areas in 20% of CPH patients, including two cases (8%) with a steal syndrome. Comparison of the initial and late clinical scores showed no significant difference between patients with and without CPH. For patients without CPH, the interhemispheric CBF asymmetry was correlated with the initial and the late scores (p < 0.0001, r = 0.81). For the CPH group, the interhemispheric asymmetry, compensated or even inverted by the hyperperfusion, was not correlated with the initial score (ns, p = 0.051, r = 0.42) and was weakly correlated to the late score (p = 0.048, r = 0.43). CONCLUSION: The cerebral hemodynamics remain normal in 80% of cases of CPH patients. The presence of CPH does not interfere with the clinical evolution. The initial and late clinical scores were not different compared to those of patients without hyperperfusion. The clinical outcome of the CPH patients cannot be accurately predicted by the interhemispheric asymmetry.

[Static contrast sensitivity in idiopathic Parkinson disease]. / Sensibilité au contraste statique dans la maladie de Parkinson idiopathique.

During Parkinson's disease static contrast sensitivity (C.S.) abnormalities are linked to an impairment of the sensitive visual function. C.S. was tested in twelve parkinsonians and 12 controls without neurological and/or ophthalmological pathology, using a Colored Stripes Electronic Generator (GEPCO). Results for parkinsons showed a general deficiency over the spectrum of spatial frequencies, which was statistically significant and particularly pronounced for intermediate frequencies. This study was repeated for three patients: it showed threshold deterioration for two of them, correlated by evolution in the disease, and an improvement for the third patient after introduction of dopatherapy. C.S. is subjected to dopaminergic control. Among parkinsonians. C.S. deterioration may result in an operating failure of both the visual cortex and retina, and is improved by dopatherapy. The Static Gepco contrast sensitivity test is easy to reproduce and can be used easily to monitor the sensory visual defect in parkinsonian patients under treatment.

[Hypothermia and the nervous system. Review of the literature apropos of 4 cases]. / Hypothermie et système nerveux. Revue de la littérature à partir de 4 observations.

Thermoregulation involves a long term adaptation system with hormonal processes and an immediate regulation system by extrapyramidal tracts, sympathetic part of autonomic nervous system and cortical integration of body temperature changes. Both system are under control of a hypothalamic center. Prolonged accidental exposure to intense cold and myxoedematous coma are the best known etiologies of hypothermia. However milder and often misdiagnosed hypothermia can occur at home in patients without endocrinologic disease. In these cases, hypothermia is due to dysfunction of immediate thermregulation under neuronal control, especially somatomotor and autonomic system. We report four cases of hypothermia of this kind. Two patients had an inhibition of peripherical mechanisms of protecting against cold (cutaneous vasoconstriction, shivering) and had dampened perception of cold: one was 73, had diabetes mellitus and took different drugs, the other one suffered from systemic lupus with myelopathy. The two other patients probably had a disorder of the thermoregulation hypothalamic center: one had Wernicke's encephalopathy and the other multiple sclerosis. From these cases and a review of the literature, we describe the different etiologies of hypothermia and their pathophysiology.

Hypertensive encephalopathy after bilateral carotid endarterectomy.

BACKGROUND: Hypertension occurs frequently after carotid endarterectomy and may lead to cerebral vascular complications and myocardial infarction. Its pathophysiology has recently been related to surgically induced damage of carotid baroreceptors. CASE DESCRIPTION: A 45-year-old normotensive man with no history of epilepsy was admitted 3 weeks after bilateral carotid endarterectomy for severe repetitive paroxysmal headaches, vomiting, and agitation that were closely associated with attacks of marked hypertension. During one of these attacks, he had a grand mal seizure. Plasma catecholamine levels during hypertensive attacks were highly elevated despite the absence of pheochromocytoma, reflecting abnormalities in baroreceptor sensitivity that lead to unrestrained activation of the central sympathetic nervous system. Heart rate response to Valsalva maneuver showed suppression of the usual tachycardia, indicating baroreceptor reflex insensitivity. CONCLUSIONS: We report the first case of hypertensive encephalopathy associated with baroreflex failure syndrome after bilateral carotid endarterectomy. The role of blood pressure monitoring may be critical in revealing carotid baroreceptor insensitivity in such clinical settings.

[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems]. / Gangliosidose à GM2 variant B1. Révélation à l'adolescence par une atteinte isolée et plurisystématisée du système nerveux central et périphérique.

The authors report on a Portuguese family with 3 adult brothers affected with GM2-gangliosidosis (B1 variant) in a sibship of 4, and more specifically on one of these brothers with neurological onset at the age of 17. Psychosis, lower motoneuron involvement and dysarthria were predominant in two of the cases; the third had a cerebellar symptomatology. Hexosaminidase A activity, studied in leukocytes, was profoundly deficient when measured using the specific sulfated substrate, but nearly normal using a conventional assay (non-sulfated substrate). These results established the diagnosis of the unusual enzymological form of GM2-gangliosidosis known as the B1 variant, which had so far not been associated with an adult phenotype. Molecular studies are in progress to study genotype/phenotype correlations in this family in comparison with known mutations in the B1 variant and in adult GM2-gangliosidosis. This report also emphasizes that a metabolic etiology, leading to genetic counselling, should be considered in some familial degenerative neurological disorders.

Spontaneous dissection of the internal carotid artery in 68 patients.

OBJECTIVES: Our purpose was to know more about the symptoms and clinical and radiological outcome of spontaneous dissections of the internal carotid artery in a retrospective study of 68 patients aged 20 to 71 (mean 46). METHODS: The diagnosis of dissection was based on angiographic findings. Nine percent of patients had minor symptoms such as a subjective bruit or painful Horner's syndrome, without an ischaemic event. Cerebral ischaemia was present in 90% of cases and occurred within a month of the initial event in all cases but one and was the first symptom in 53% of cases. RESULTS: Magnetic resonance imaging performed in 21 cases showed haemorrhage in the vessel wall. Resolution of the angiographic appearances occurred in 65% of cases after 3 months. In cases of stroke, more than half of the patients had poor functional outcome, factors conveying poor prognosis were massive stroke, embolic mechanism and lack of local recanalization. CONCLUSION: Spontaneous dissection of the internal carotid artery is not a rare cause of cerebral ischaemia and can present with minor symptoms without an ischaemic event. Doppler ultrasonography and magnetic resonance imagery are helpful in diagnosis and follow-up.

[Meningoradiculitis disclosing T-lymphocyte leukemia in HTLV-1 infection]. / Méningo-radiculite révélatrice d'une leucémie à lymphocytes T au cours d'une infection à HTLV1.

A case of HILV1-associated adult T cell leukaemia/lymphoma (ATLL) in à 21-year olf African woman is reported. The patient presented with lymphomatous meningoradiculopathy. The usual clinical features of ATLL were absent. Lumbar MRI showed a pial enhancement by DTPA-gadolinium of the conus medullaris which extended to the proximal cauda equina. Under systemic chemotherapy coupled with intrathecal chemotherapy the patient progressively improved, and at the second MRI examination complete disappearance of the lumbar enhancement was observed. MRI of the brain using axial and coronal T2-weighted sequences detected multifocal lesions of high-intensity signal in the subcortical white matter. ATLL is unusual in people of African origin. The ATLL-strongyloïdes infestation association has previously been reported, suggesting that parasitic infestation may be an important co-factor leading to the development of ATLL.

[Pro-arrhythmia effect of pyridostigmine. Apropos of a case]. / Effet proarythmique de la pyridostigmine. A propos d'un cas.

A coronary patient with myasthenia gravis with a previous myocardial infarction presented with severe ventricular arrhythmias after the replacement of neostigmine by pyridostigmine for the treatment of the myasthenia. These arrhythmias were resistant to antiarrhythmic therapy associating betablockers and amiodarone throughout treatment with pyridostigmine but regressed when this drug was withdrawn. A test of reintroduction of pyridostigmine under medical surveillance led to the reappearance of the ventricular hyperexcitability, so confirming the responsibility of this drug. This would seem to be the first reported case of severe ventricular arrhythmias due to a proarrhythmic effect of pyridostigmine. The possible mechanisms of this effect are discussed.