Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.

Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency and had severe recurrent strokes in adult life. Two of the patients died 1 year after clinical onset.

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.

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.

Familial juvenile parkinsonism with multiple systems degenerations. A clinicopathological study.

An unusual case of familial multisystemic degeneration is reported. Two siblings had juvenile parkinsonism, areflexia, and retinal degeneration of slow progression. The main neuropathological findings in case 1 were pallidoluysian, nigral, dentate, and dorsal columns degeneration. The authors draw a comparison between this case and juvenile parkinsonism, dentato-rubro-pallido-luysian atrophy, and spino-cerebello-nigral degeneration.

Watershed cerebral infarcts: retrospective study of 24 cases.

Twenty-four patients presenting an acute stroke with watershed cerebral infarct on CT scan or MRI were included in this retrospective study. Age was 63 +/- 14 years (mean +/- SD), and sex ratio was 2 men for 1 woman. Main clinical features were: in anterior location, lower limb weakness and frontal syndrome with transcortical motor aphasia in left lesions or spatial dyscalculia in right ones; in posterior location, brachiofacial weakness with constant quadranopsia and hypoesthesia, and Gerstmann syndrome in left lesion. There was no distinctive feature for subcortical and multiple infarcts. In bilateral infarcts, there were one pseudobulbar syndrome, and 2 pseudo brainstem syndromes with neuropsychological signs. Aetiologies were severe carotid artery disease in 14 cases, severe cardiopathy in 6, isolated cerebral angiitis in 1, essential thrombocythemia in 1, protein C deficiency with sickle cell disease in 1, and cholesterol emboli in 1 anatomical case. CBF performed in carotid artery occlusions or tight stenoses showed evidence of haemodynamic changes. Microembolic process can be proposed in the case with cholesterol emboli. Preventive treatment is discussed.

[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.

[Familial case of myotonia with muscular hypertrophy, weakness corrected by effort and atrophy of type II fibers]. / Observation familiale de myotonie avec hypertrophie musculaire, faiblesse corrigée par l'effort et atrophie des fibres de type II

A 35 years old man has a non progressive muscle disease which appeared when he was 6. Clinically, there is a slight muscle hypertrophy, an important spontaneous myotonia and a curious muscle weakness, quite marked on the first efforts, but disappearing entirely after a few muscle contractions. The E.M.G. is normal but for the myotonic reaction. Muscle biopsy shows a selective atrophy of type II fibers. The disease is a genetic one, a sister and a brother of our patient having noticed the same symptom. The place of this disease among the congenital myotonias is discussed.

[Familial form of centronuclear myopathy in the adult]. / Forme familiale de myopathie centronucléaire de l'adulte

Two adult cases of centronuclear myopathy are described in a family from French Guyana. One of them, aged 23, has a slight weakness despite hypertrophic muscles. A typical picture of centronuclear myopathy was seen on muscle biopsy with atrophy of type I fibers and hypertrophy of II A fibers. His uncle, aged 53, had a progressive weakness of the lower limbs for the last 25 years, with also a pattern of centronuclear myopathy, but with more dystrophic features and atrophy of both type I and II A fibers. The mode of inheritance is dominant. These two cases are compared with the previously published reports. The pathogenesis of centronuclear myopathy is discussed.

[Glioma of the posterior limbic system revealed by transient global amnesia. Anatomic-clinical observations of 1 case]. / Gliome du système limbique postérieur, révélé par une amnésie globale transitoire. Observation anatomo-clinique d'un cas

Transient global amnesia occured three months previously to a tumoral Korsakoff's syndrome. Neuropathologic studies discovered a polymorph glioblastom strictly localized to posterior limbic system. The interest of topography and associated degenerations is pointed out.

[Eales's disease with neurological involvement (author's transl)]. / Maladie de eales avec manifestations neurologiques.

A moroccan male aged 26, with Eales's disease since 6 years, develops a low thoracic level paraplegia over 2 months. Examination then also points out an horizontal nystagmus. CSF changes are important: 292 cells/mm3 (96 p. 100 lymphocytes), 3,80 g/l proteins. Slight improvement is obtained by corticosteroid therapy. This case is compared with those of the literature, mostly myelopathies. The pathogenetic problems of immuno-allergic type are discussed.

[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.

[Flutter-opsoclonus: report on three cases (author's transl)]. / Le flutter-opsoclonie. A propos de trois observations.

Three cases of spontaneous saccadic ocular movements are reported, each with one or several electrooculographic recordings. Case 1 is a typical ocular flutter during a myoclonic encephalitis with cerebellar signs. Case 2 is an ocular flutter occurring in the course of an acute inflammatory polyneuropathy with cerebellar signs after cytomegalovirus infection. Case 3 began with permanent dissociated opsoclonus, then conjugated opsoclonus and ended with vertical flutter in a patient suffering from bronchial carcinoma. While some definitions are unclear, clinical, electrooculographic and etiological data support a unicist point of view on flutter-opsoclonus.

[Benign cerebral angiopathies and phenylpropanolamine]. / Angiopathies cérébrales bénignes et phénylpropanolamine.

Heroin, cocaine, amphetamines, sympathomimetic drugs can cause cerebral angiopathy. We report 2 patients with cerebrovascular disorders after ingestion of a nasal vasoconstrictor containing phenylpropanolamine (P.P.A.). The first patient had two acute repetitive attacks of severe headache and vomiting, occurring after a daily treatment with 180 mg of P.P.A. during 6 weeks. The second patient had an intracerebral hemorrhage, occurring some hours after taking for the first time 120 mg of P.P.A. In both cases, cerebral angiography, performed in the next week, demonstrated segmental narrowing and dilatations of medium-size intracranial arteries. None of the usual causes of cerebral vasculitis were present. The outcome was favorable and follow-up angiograms showed the disappearance of the beading pattern. P.P.A. is widely used over the counter in diet pills and stimulants. Cerebral vascular complications have been rarely reported, always hemorrhagic and often associated with cerebral vasculitis. They are unrelated to duration or dosage of treatment. The mechanism is unclear but could result from several factors: chronic or paroxystic high blood pressure, immuno-allergic vasculitis, arterial spasm, direct "toxic" effect of the P.P.A. on the arterial wall may be increased by other drugs and caffeine.

[Clinical and developmental aspects of small brain stem hematomas. Contribution of x-ray computed tomography]. / Aspects cliniques et évolutifs des hématomes circonscrits du tronc cérébral. Apport du scanner X.

In a review of 16 cases, the authors emphasize that small brainstem haemorrhages, diagnosed by CT-scan, can have a good outcome, most often spontaneously. Twelve hematomas were in the pons, four in the mesencephalon. Several clinical features were remarkable: consciousness was not or moderately impaired, focal symptoms and signs predominantly neuro-ophthalmologic were present. Involvement of the cranial nerves and long tracts occurred rarely in isolation. Arterial hypertension was the usual cause (50 p. cent); one normotensive patient with neurological disorders prior to the bleeding had an arteriovenous malformation, demonstrated angiographically. In two cases an obstructive hydrocephalus was surgically treated. Expected advances from CT-scan and magnetic resonance imaging (M.R.I.) are discussed.

[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.

[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.

[Sex-linked familial form of progressive spinal amyotrophy in adults]. / Forme familiale liée au sexe d'amyotrophie spinale progressive de l'adulte.

An X-linked spinal muscular atrophy is reported in one family. Four of the five patients were examined. In three, electromyography, conduction nerve velocities and muscle biopsy were consistent with anterior horn cell disease. Similar families in the literature were reviewed and characteristic data were: 1) adult-onset, 2) proximal, bulbar and facial involvement, 3) prominent perioral fasciculations, 4) frequent association of cramps, tremor and sexual dysfunction (hypogonadism and gynecomastia), 5) very slow progression and favorable prognosis. These characteristics define, among the spinal muscular atrophies, a distinct entity named by several authors Kennedy's disease.

[Cerebral ischemic accidents and chronic disseminated intravascular coagulation of cancerous origin]. / Accidents ischemiques cérébraux et coagulation intravasculaire disséminée chronique d'origine cancéreuse.

Cerebral infarcts in 3 patients revealed the presence of disseminated intravascular coagulation (DIVC) of cancerous origin before any clinical manifestations of the neoplasm. Neurologic manifestations of these consumption coagulopathies almost constantly produce a picture of diffuse encephalopathy, expression of disseminated microinfarcts; however, transient or constituted focalized ischemic accidents by occlusion of a medium sized artery are also possible, and this in the absence of non-bacterial thrombotic endocarditis. Biologic diagnosis of DIVC is not always simple, and screening tests (platelet count, prothrombin and fibrinogen levels) can remain within normal limits during chronic forms, as a result of a subjacent inflammatory syndrome, frequently associated with cancer. Two other specific serum tests are therefore of fundamental interest: assay of fibrin degradation products and tests for soluble complexes.

[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.

[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.