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Context: Progressive supranuclear palsy (PSP) is classically characterized by supranuclear ophthalmoplegia, paroxysmal imbalance with backward falling, axial dystonia, rigidity, pseudobulbar palsy and cognitive dysfunction. However, incomplete or atypical clinical presentation has been previously reported, but in all these cases, the patients had at least one of the main clinical features of the disease (ophthalmoplegia, parkinsonian syndrome or cognitive dysfunction)., Case Report: A 60-year-old woman presented with nocturnal agitation and choreiform movements. A few months later she developed severe swallowing disorders, caused by achalasia of the upper esophageal sphincter, and responsible for recurrent acute respiratory distress and pneumonia, prevailing to tracheotomy and gastrostomy. She died suddenly two years after the onset of the symptoms., Results: Postmortem examination of brain revealed a tauopathy, with deposition of abnormal phosphorylated tau in threads and in coiled-shaped as well as globose tangles in the brainstem, subthalamic nuclei and hippocampus. Nuclei of the medulla, including the vagus/solitarius complex and the region of the nucleus ambiguous were especially rich in tau positive inclusions. Ultrastructural analysis of globoid-shaped tangles in the brainstem revealed the presence of straight and paired helicoidal filaments compatible with a PSP., Conclusions: This case contributes to improve knowledge of the clinical phenotypic range of PSP. In this case, the neuropathological lesions accounted for most of the symptoms. However, the early death of the patient was probably related to the particular distribution of the neuropathological lesions. This case suggests that the initial neuropathological changes in PSP is located in the dorsal brainstem.

Introduction: Pompe's disease, also called glycogen storage disease type II or acid maltase deficiency, is an autosomal recessive disease caused by an enzymatic deficiency of acid-alpha-glucosidase (GAA). This deficiency causes an accumulation of intralysosomal glycogen in different organs. The classic form appears in the newborn with a very severe hypotonia and cardiomyopathy, which lead to death before age two. Less frequently, the disease appears only in childhood or in adult life, so called late-onset Pompe's disease. This form causes a very progressive limb-girdle myopathy and restrictive respiratory failure. The diagnosis is based on a low level of GAA either in the muscle biopsy or in the leucocytes. We report six cases of late-onset Pompe's disease from the Languedoc-Roussillon district., Method: Our work was a retrospective analysis of all cases of Pompe disease diagnosed in adults between 1975 and 2006 at the Montpellier and Nîmes University Hospital. We describe the clinical presentation and course of this form and explain the diagnostic approach. Results. The mean age at onset was 44.3 years (range: 36-60 years). The first symptom was fatigability (50%), gait difficulty (50%) and dyspnea (16%). The mean delay from symptom onset to diagnosis was 8.4 years (range: 17 years). Fatal outcome due to respiratory failure was noted in three patients. The mean time between symptom onset and death (four patients) was 20.75 years (range: 37 years). The diagnosis was made on the muscle biopsy showing a low level of GAA. Muscle was strictly normal on the morphologic study in one patient, pointing out the requirement for enzymatic analysis. Molecular confirmation was available in one patient., Discussion: Late-onset Pompe's disease is a possible cause of limb-girdle myopathy. Respiratory involvement is a characteristic feature. Enzymatic assay of GAA activity on the muscle biopsy is required for certain diagnosis., Conclusion: It is very important to recognize the adult form of Pompe's disease, a possible cause of limb-girdle myopathy, in order to search for respiratory failure and propose non-invasive ventilation if necessary. Moreover, substitutive therapy (recombinant acid-alpha-glucosidase) has shown efficiency for the classical infantile form of Pompe's disease and such treatment could be proposed for the adult form if larger studies confirm its efficacy.

Introduction: The most frequent acute and sub-acute complications of chronic alcoholism are delirium tremens, hepatic encephalopathy and Gayet-Wernicke encephalopathy. Morel laminar sclerosis is a rare and less known complication, often reported with Marchiafava-Bignami disease., Case Report: A 57-year-old alcoholic man presented delirium after surgery. Anterograde and retrograde amnesia as well as wrong recognitions appeared progressively and one generalized seizure occurred. He then developed mutism and became bedridden. Magnetic resonance imaging (MRI) showed high-intensity bilateral temporoparietal signals from white matter on T2-weighted images and high-intensity signals from the parietal cortex on T1-weighted images. The patient died four months after the onset of the delirium. Post-mortem examination of the brain showed cortical laminar necrosis with Alzheimer Type II gliosis but without demyelinisation of the corpus callosum., Conclusion: Cortical laminar necrosis with chronic ethylism is usually called Morel's laminar sclerosis. Nevertheless, histology is not typical of this diagnosis, because of necrosis especially of the second (and not the third) layer of the cortex, and because of the absence of lesion of the corpus callosum. MRI data are of interest here because they were rarely reported in cases of Morel's laminar sclerosis.

Among neuroeosinophilic syndromes, neuromuscular disorders are considered as a special group, including perimyosistis, polymyositis and fasciitis. These three disorders are considered as a continuum. They usually without a recognized cause, and are considered to be spontaneous or exercise-induced. We report the case of a 43 year-old woman who experienced angioedema followed by an histologically proven-fasciitis with eosinophilia after Ramipril (Triatec) use. Causal attribution to Ramipril was considered "plausible". To our knowledge this side effect has never been reported with this drug.

Andersen syndrome includes a clinical triad with periodic paralysis, cardiac arrhythmia and dysmorphic features most often mild but relevant. It is a potassium channelopathy due to mutation of KCJN2 gene coding for Kir 2.1 protein. We report a familial case with mutation R218W of Kir 2.1 and discuss the main phenotypic and genetic aspects of Andersen syndrome. Muscle manifestations are essentially a periodic paralysis most often of hypokaliemic type. Muscle biopsy reveals tubular aggregates but can be normal as it is shown in the same patient in our kindred. Our proband complained of paralytic attacks since childhood and at adult age she demonstrated a mild permanent deficit of pelvic girdle muscles as it has been described in other types of periodic paralysis after a long duration course. Cardiac manifestations may include in a variable manner a long QT syndrome, premature ventricular contractions, complex ventricular ectopy, polymorphic or bidirectional ventricular tachycardia. Imipramine had a positive effect on arrhythmia in our case. Dysmorphic features are often mild and have to be cautiously looked for as a clue to the diagnosis of Andersen syndrome. They can be easily overlooked if not systematically looked for. Clinical expressivity is variable including in the same family. In our observation, the daughter showed a complete triad, early expressed, which allowed the diagnosis. Her father was late diagnosed on ventricular dysrhytmia but without muscle manifestations and dysmorphic features. Since KCJN2 gene mutation identification, locus heterogeneity of Andersen syndrome was shown. Andersen syndrome kindreds without mutations in KCNJ2 were clinically indistinguishable from KCNJ2-associated subjects. KCNJ2 gene encodes the inward rectifier K+ channel Kir2.1 which plays an important role in maintaining membrane potential and during the terminal phase of cardiac action potential repolarization. Several studies showed a dominant negative effect of the mutation on Kir 2.1 channel function.

Neurological symptoms in a patient with large congenital melanocytic naevus are highly suggestive of cerebromeningeal melanoma metastasis. The presence of melanocytic cells in cerebrospinal fluid confirms this diagnosis If their malignant nature is shared with cutaneous naevocytic cells. Conversely, neurocutaneous melanosis is diagnosed when benign melanocytosis meningitis is found in patients with multiple and/or large congenital melanocytic naevus, whether cutaneous naevus cells are benign or not, or when cerebrospinal fluid cells are malignant with benign cutaneous melanocytic naevus. We report the case of a young man aged 19 presenting with multiple and large congenital melanocytic naevus who experienced transcient neurological signs and increased intracranial pressure. Cerebral neuroimaging evoked meningeal infiltration which benign melanocytic nature was supposed on CSF analysis and confirmed by necropsy findings, only 3 month after neurological onset, leading to neurocutaneous melanosis diagnosis. This rare neuroectodermal dysembryoplasia finds expression in various neurological signs, depending on patient's age and leptomeningeal and/or cerebral proliferation localization. Lumbar puncture, cerebral scanography and MRI may help diagnosis, but only histological examination can prove neurocutaneous melanosis, more often by necropsy because of poor prognosis.

Granulomatous inflammation is infrequently observed in muscle biopsy. We report a series of 7 patents presenting with granulomas in muscle. Two of them had a history of sarcoidosis In 4 other cases, muscle Involvement revealed systemic sarcoidosis. Among the 6 cases of sarcoidosis, we observed 2 with acute myositis and 4 chronic forms. The last patient presented with polymyositis in association with melanoma. In sarcoidosis, muscle biopsy showed a granulomatous inflammation of varying intensity, which was generally associated with mononuclear inflammatory cells. Most of granulomas were located in the perimysium and the endomysium and necrosis was absent. Inflammatory cells were predominantly macrophages and CD4 positive lymphocytes. On the contrary, in the case of paraneoplastic polymyositis,granulomas were rare, most of inflammatory cells were CD8 positive lymphocytes and numerous areas of necrosis were observed. Class I MHC molecules were expressed on the membrane of muscle fibers. As a general rule, requisite examinations must be performed to search for sarcoidosis in patients exhibiting granulomas on muscle biopsy.

Orbital myositis is idiopathic inflammation of the extraocular muscles in the absence of thyroid orbitopathy and often is included under broad description pseudotumor. We report here a series of three cases. Data from literature, combined with our own results yield a distinguishing pattern of orbital myositis suggesting that the term "orbital pseudotumor" is no longer a useful concept. The diagnostic criteria purposed here are: acute orbital pain exacerbated on eye movement; enlargement of one or more extraocular muscles with the respect of other orbital structures on muscle CT scan; absence of clinical and biological thyroid dysfunction: absence of signs of anterior uveitis or scleritis or visual decrease; rapid response to immunomodulator treatment.

Dermatomyositis (DM) and polymyositis (PM) are the two main forms of idiopathic inflammatory myopathies. They have in common a proximal muscle weakness, but skin manifestations, juvenile forms and increased incidence of malignancies are clinical characteristics of DM. The follow up of creatine-kinases is the best biological test in spite of their possible normality. The significance of antibodies titers is uncertain, except the association Jo-1 interstitial and lung disease indicating a poor prognosis. The association with HLA haplotypes expresses a genetic predisposition of a dysimmunity to develop DM or PM. Pathological changes are well known with a humoral immune effector mechanism in DM, and a muscle fibre aggression by CD8 + T cells in PM. Non inflammatory forms of DM and PM and rhabdomyolytic forms of PM are not very rare, they are recognized by the HLA class 1 immunoreactivity. Pathophysiological processes involve muscle fibers, inflammatory cells and endothelial cells of capillaries, with a complex intervention of cytokines, adhesion molecules, MHC classe 1, membrane attack complex, anti endothelial cells antibodies, perforin secretion and sometimes apoptotic Fas-mediated mechanisms. Despite these recent advances, causal antigens and activator processes of endothelial cell lysis and autoinvasive cytotoxicity of muscle fibers remain to be identified.

We report 13 French patients with proximal myotonic myopathy. PROMM is a recently delineated multisystem disorder with dystrophic myopathy, myotonia and cataracts. This syndrome is genetically distinct from myotonic dystrophy (DM) by the absence of abnormal CTG repeat expansion. The geographical origin varies but 4 families originated from Poland. Of late onset, muscle weakness is diffuse and predominantly affected proximal and axial muscles. Facial involvement and myotonia were moderate or absent, but in all cases myotonic discharges were detected on EMG. 6 patients suffered from myalgia. Cataracts occurred in 11 patients, mainly indistinguishable from those in DM. Cardiac arrythmia occurred in 7 patients. Muscle biopsy revealed rare structural changes of the muscle fibers and selective type I atrophy, common in DM, could not be found on morphometric analysis. PROMM has a distinct clinical spectrum from DM which includes a predominantly proximal muscle weakness, with troubling pain, a more favourable prognosis and a different histopathological pattern.

The clinical and pathological findings of a 43-year-old woman, diagnosed as having acute hemorrhagic leukoencephalitis at postmortem examination, are presented. The acute hemorrhagic leukoencephalitis affects mainly young adults and is the most fulminant from of demyelinating disease. It is frequently preceded by a respiratory infection. Diagnosis is facilitated by CT scanning and MRI, which reveal the massive lesion in the cerebral white matter. Many cases terminate fatally in 2 or 4 days, but in others survival is longer. The pathological findings are distinctive.

The case of a 41 years old man presenting with mitochondrial myopathy associated with calcification of the basal ganglia (Fahr's disease) neurosensorial and endocrine-deficits is reported. These different symptoms could share a common physiopathological process.

Cerebral angiotropic large cell lymphoma is a rare fatal neurologic disorder characterized by multifocal intravascular proliferation of large pleomorphic cells within vessels of all caliber, predominantly skin and nervous system. Clinical manifestations in previously reported cases were dominated by focal neurologic signs, epilepsia and progressive dementia. We report a case of a 70 year-old man with subacute dementia, epileptic seizures and cerebrovascular events. There was no evidence of a systemic disease outside the nervous system. Cerebrospinal fluid contained 13 leukocytes/mm3 (49% of lymphocytic cells) and more than 100 mg/dl of protein. Cytology was negative. Cranial MRI demonstrated cerebral atrophy and an increased paraventricular signal in T 2 weighted images. A frontal brain biopsy revealed only neuronal dystrophy and astrocytic gliosis. Despite treatment with corticosteroids the patient died 18 months after the onset of the first symptoms. Autopsy was performed and revealed B cell lymphoma.

We report three cases of mitochondrial encephalomyopathy affecting predominantly the central nervous system; two patients had the MELAS syndrome and one had "ophthalmoplegia plus". Histoenzymatic analysis of muscle biopsy and biochemical studies of muscle mitochondria demonstrated myopathy associated with partial deficiency of complex I of the electron transfer chain in three cases, complex IV in two cases and complex III in one case. Molecular analysis of mtDNA in the first case did not revealed any abnormality. Coenzyme Q10 therapy improved exercise tolerance but not the central nervous signs.

Three cases of chronic limb-girdle myasthenia gravis (one man and two women) are reported. The duration of the disease was three, five and 20 years respectively. None had oculobulbar weakness during this period nor fluctuating symptoms. The primary diagnosis was myopathy in two cases and myelopathy in the other one. In view of this diagnosis, several features were atypical: absence of marked wasting, preservation of tendon reflexes and normal serum creatine kinase activity. Finally, diagnosis of myasthenia gravis was established by the occurrence of a characteristic decremental muscular response to repetitive stimulation and by positive edrophonium test. It seems that the rate of positivity of acetylcholine receptor antibody is lower than in the common form of the disease. Two patients responded to acetylcholinesterase inhibitors and one to high-doses intravenous human immunoglobulins. These and previous cases described in the literature raise the problem of the definition of an unusual form of myasthenia gravis or of a new type of neuromuscular disease characterized by the presence of distinctive changes on muscular biopsies, specially tubular aggregates as in one of our cases. However, this unusual form of chronic limb-girdle weakness has to be recognized because treatments are effective in most cases.

A case of peripheral neuropathy following treatment with piroxicam is reported. The patient developed muscle pain and asymmetrical sensory distal neuropathy of the lower limbs a few months after the onset of the treatment. Piroxicam was withdrawn and full recovery was achieved within one year. The simultaneous appearance in the same patient of erythroderma with microvasculitis on nerve and skin biopsies suggests a common type III hypersensitivity mechanism in the pathogenesis of these two side-effects of piroxicam.

A retrospective study of 40 patients with various neuromuscular disorders and more than 3 muscle fibers with rimmed vacuoles has been performed. Two subgroups of patients were distinguished according to the presence or absence of inflammatory exudates. In the first group (14 patients), inflammatory exudates were observed and numerous fibers showed partial invasion. Abnormal filamentous inclusions (16-18 nm in diameter) were found by electron microscopy in muscle fibers cytoplasm and/or nuclei. The diagnosis of inclusion body myositis (IBM) was made in these cases. They presented with insidious proximal muscle weakness and were not improved by immunosuppressive therapy. Immunohistological studies demonstrated T lymphocytes predominance, only few natural killer and B lymphocytes. The number of T8 lymphocytes was high in endomysial sites while T4 were more numerous in perivascular exudates. Abnormal membranous expression of class I MHC antigens was observed on muscle fibers lying near the inflammatory exudates. In the second group of cases (26 patients), no inflammatory exudate was observed. This group of neuromuscular diseases with rimmed vacuoles was heterogeneous. In 10 cases, abnormal filamentous inclusions (16-18 nm in diameter) were observed in rimmed vacuoles. However, this ultrastructural feature did not help in distinguishing subgroups. Various neuromuscular disorders were observed in this group: oculopharyngeal muscular dystrophy (12 cases with IBM like filaments in 4 cases), chronic spinal atrophy (5 cases with IBM like filaments in 3 cases), post poliomyelitis syndrome (2 cases with IBM-like filaments in one), muscle glycogenosis with IBM like filaments (2 cases), hereditary limb girdle myopathy or distal myopathy (3 cases) and 1 patient clinically presenting with polymyositis and another with cramps and myalgias. No abnormal sarcolemmal expression of class I MHC was found in this group. The pathogenesis of IBM is discussed. Besides T cell mediated cytotoxicity, denervation may be involved. The nature of the abnormal 16-18 nm filamentous inclusions remains unknown. These filaments are not IBM specific.

We report a late onset form of polysaccharide myopathy with progressive limb girdle muscles weakness, without cardiomyopathy. Muscle biopsy showed a vacuolar myopathy in type 1 fibres. The PAS positive diastase resistant deposits were made of filamentous material at electron microscopy similar to long chain glycogen. Muscle glycogen levels and glycogen metabolism enzymes were normal. Numerous abnormal mitochondrial with paracrystalline inclusions were observed around the storage material. Twelve patients with polysaccharide amylopectin-like storage myopathy have previously been reported. This disease must be distinguished from other diseases with polysaccharide accumulation such as branching enzyme deficiency and some cases of phosphofructokinase deficiency. In other disorders, no deficient enzymes in the glycogen pathway was found. Some of them show systemic storage (Lafora disease, adult polyglucosan body disease). Corpora amylacea, Bielchowsky bodies and basophilic degeneration of the myocardium represent localised depositions. A few inclusions can also be observed in hypothyroid myopathy. In polysaccharide myopathy allosteric inactivation of phosphofructokinase by a mitochondrial dysfunction is considered by analogy with cases of polysaccharide storage related to phosphofructokinase deficiency.

A 55 year-old male experienced a dystonia of the right upper limb followed by a ptosis with complete ophthalmoplegia and cataract. He developed a sensory neuropathy and personality changes. Ragged-red fibers were found on muscle biopsy. There was a major defect in complex III and IV activity.

The post-polio syndrome refers to new neuromuscular symptoms developed by some patients many years after recovery from acute poliomyelitis. Several groups were separated: musculo-skeletal symptoms (different from a new spinal cord disease), infraclinical signs (EMG), post-polio muscular atrophy (new lower motor neuron objective signs) with several subgroups: cramps and fasciculations, benign focal weakness and atrophy (in previously affected muscles or in unaffected muscles), progressive spinal muscular atrophy. The following examination were performed in some cases, but not all, in this retrospective study: muscle CT scan, conventional electromyography (EMG), quantifying-EMG, macro-EMG and single-fiber EMG. The serum titers of neutralising antibodies to polio virus type 1, type 2 and type 3 were negative. No oligoclonal bands were found in the CSF from 6 patients screened by electrophoresis immunoelectrophoresis. Serum creatine kinase or aldolase was high in 6 patients. The same unusual features in this syndrome were observed on muscle biopsies: muscular hypertrophy and interstitial eosinophils; two patients had rimmed vacuoles in the muscle fibers.

Twenty-five patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) were studied in order to define the clinical, biological, electrophysiological and pathological features of this disease. There were 11 men and 14 women ranging in age from 15 to 82 years. The average follow-up was 43 months. Patients fulfilled the criteria laid down by Dyck et al. (1975), except that progression of weakness was at least 2 months and not 6. Fourteen patients had a progressive course and 11 a relapsing one. Weakness was almost constant (24/25), sensory impairment was present in 22/25 with deep sensation predominantly impaired. Areflexia was observed in all patients. A history of previous infection or other possible precipitating event was given by 7 patients. Cerebrospinal fluid examination showed a raised total protein count in 22 cases. Electrophysiological examination revealed a slowing down of nerve conduction velocities to an extent compatible with a demyelinating process in 23 cases; 2 patients only had prolongation of F-waves. Sural nerve biopsy was less informative: inflammatory process--the most specific finding--was observed in only 3 out of 20 biopsies. Six patients had benign forms or spontaneous remission, the others were treated with corticosteroids or with immunosuppressive drugs. Most patients (64%) recovered very well. Only one died during the time of study. Eight other patients were treated with high-dose intravenous immunoglobulins and 4 of them improved with administrations at regular intervals to maintain the benefits observed. The occurrence of CIDP in association with other conditions is reviewed and we discuss its nosological position among the acquired demyelinating neuropathies.

The case of a 41 year old woman with amyloid myopathy is reported. Clinical involvement consisted of limb girdle muscle weakness, mild scapular muscle atrophy and dysphagia. In contrast with the published cases, abnormal firmness, pseudohypertrophy of the musculature and macroglossia were absent. Muscle biopsy showed endo- and perimysial amyloid deposits but also inflammatory infiltrates. Inflammatory cells typing was studied by immunocytochemical methods and revealed a predominant T-helper cell infiltration. Free kappa light chains were present in serum and urine. Serum immunoglobulin levels were reduced. Bone marrow examination revealed mild plasmocytosis without abnormal cells. Immunofluorescence and immunoperoxidase techniques for identification of the type of amyloid fibrils showed positivity with antisera to kappa light chains. A 4-year follow-up revealed a progressive worsening of muscle weakness despite immunosuppressive treatment. No malignant plasmocytosis occurred. The unusual inflammatory muscle infiltration observed in this case may suggest an associated polymyositis.

We report a case of an axonal sensorimotor neuropathy involving salazosulphapyridine in a slow-acetylator patient with ulcerative colitis. Rather than hypersensitivity the mechanism of the neuropathy can be assumed to be toxicity. The role played by the respective different metabolites in the occurrence of this uncommon side effect is uncertain.

Twelve medulloblastomas were screened for their expression of adhesion molecules L1, N.CAM isoforms and HNK1 epitope by Western blotting and immunohistochemistry. Highly sialylated N.CAM isoforms were distinguished from total N.CAMs by using a monoclonal antibody (anti-MenB) specifically recognizing high polymers of 2-8 linked neuraminic acid. All tumors expressed HNK1 epitope, N.CAM and its highly sialylated isoforms on their surface membrane. L1 adhesion molecule was detected by immunohistochemistry in only one medulloblastoma. This spectrum of expression of cell surface adhesion molecules distinguishes medulloblastomas from other primitive neuroectodermal tumors. Medulloblastomas share some immunological features with post-mitotic cells forming the external granular layer of the cerebellum. Western blotting analysis of cerebrospinal fluid (CSF) samples with anti-MenB antibody enabled us to detect highly sialylated N.CAM in some samples. The presence of this antigen in CSF appears to correlate with meningeal spreading of medulloblastomas and could help monitoring chemotherapeutic treatment.

Slowly progressive myopathy with tubular aggregates is rare and dominantly or recessively inherited. Three sporadic cases are reported in the present study occurring in 2 men and 1 young woman. All patients had proximal limb weakness without severe atrophy. They also complained of exercise-induced stiffening and cramps of their leg muscles. In 1 case severe cardiomyopathy caused unfavorable clinical course and death. Serum creatine kinase activity was normal and electromyogram showed only slight myopathic changes. Tubular aggregates were found to be the sale morphological abnormality. They were present in type II fibres in 1 case and in type I and type II fibres in the others. An immunocytological study with a polyclonal antibody against Ca2+ SR-ATPase showed positivity of the tubular aggregates with this antibody. A quantitative analysis (SAMBA 2000 alcatel TITN) was carried out on frozen sections stained for calcium. It showed a lower calcium content in tubular aggregates than in other part of the fibre. Slowly progressive myopathy with tubular aggregates may be distinguished from other diseases where tubular aggregates are the sale structural change, such as myopathies with myasthenic features and some neuromuscular diseases with exercise intolerance without progressive course. Usually, tubular aggregates are not a specific finding; they have been described in various disorders in association with other structural changes.

The authors report the clinical signs and histological findings in 62 patients with ocular myopathies divided into two groups: (a) ocular myopathies with mitochondrial abnormalities, themselves divided into pure (19 cases) or progressive (15 cases) ophthalmoplegia, and multisystemic myopathies (14 cases); (2) oculopharyngeal myopathies (15 cases) in elderly subjects, with constant intranuclear tubulofilamentous inclusions. Among myopathies with mitochondrial abnormalities, ocular forms with a favourable prognosis coexisted with earlier and more severe multisystemic lesions.

Symptomatic dolichoectasia of the vertebrobasilar system was found in 23 patients (16 males and 7 females, mean age: 62 years) during a 13-year period. Arterial hypertension was noted in 20 cases and associated aortic ectasia in 4. The malformation was identified in all patients on CT completed by angiography in 19, MRI in 7. Autopsy was performed in 5 cases. Fourteen subjects (group 1) presented with a vascular event (ischemic in 13) affecting the brainstem and/or cerebellum. Nine other patients (group 2) had a chronic symptomatology resulting from compression of the cranial nerves, central nervous system and/or CSF pathway. Two patients died of stroke within the first month (rupture of the ectasia in one and occlusion in the other one). The 21 survivors were followed for a mean period of 45.3 months. Eight patients had a stroke, with a significantly higher incidence in group 1 than in group 2 (p less than 0.05). Ten patients (5 in each group) developed progressive dementia possibly resulting from multiple cerebral infarction, hypertensive leucoencephalopathy, and/or hydrocephalus. Twelve patients died during the follow-up (4 of stroke, 6 of profound mental and motor deterioration, one from ruptured ectatic aorta, and the last one of unrecognized cause). The actuarial survival rate was 60% after 3 years of follow-up. Except for the incidence of stroke, inaugural manifestations (stroke vs nervous compression) did not seem to influence the long-term prognosis.

A cerebral recurrence of panarteritis nodosa in a 64-year old man is reported. The patient developed lymphocytic meningitis and encephalitis resulting in dementia within 3 months. Lumbar puncture confirmed the presence of lymphocytic meningitis, and cerebral biopsy showed a lymphocytic arteritis. The neurological deficit regressed after six months of treatment with methylprednisolone and cyclophosphamide.

Exercise intolerance with slight myalgia worsened by a cold environment resulted in the diagnosis of CPT deficiency in a young boy with no family history. Recurrent myoglobinuria is not the hallmark of such a deficit. Biochemical examination of muscle biopsy in suggestive situations is the way to diagnosis. Concomitant myoadenylate deficiency in this patient could represent a precipitating factor. Partial CPT deficiency in all the patients reported was first explained through the mechanism of intra mitochondrial fatty acid transport but raises questions about the regulation of CPT synthesis.

Clinical data suggesting that aphasic semeiology undergo some evolution with age are summarized. Three kinds of hypotheses may account for this evolution: (1) a possible evolution with age of the site and extent of ischaemic lesions: (2) an evolution according to age of brain functional organization for language; and (3) evolution with age of psychological and/or social aspects of individuals in whom aphasia occurs. These hypotheses are discussed in the light of a clinico-pathological case of Wernicke's aphasia with logorrheic jargon due to an infarct involving both anterior and posterior parts of the left cortical speech area. This observation does not support the first set of hypotheses implying the lesion's site. On the other hand, as regards the second hypothesis, it is conceivable that the most instrumental features of speech functional organization may undergo a progressive subcorticalization process with age so that it possibly accounts for some age specificity in aphasic semeiology. Finally, the last set of hypotheses--individual's psychological and/or social aspects--although untested here, is thought to be also of some relevance.

A 15 year-old North-African female showed typical symptoms and evolution of Progressive Myoclonus Epilepsy of the Unverricht type. Pathological examination failed to show either inclusion bodies or any other storage material. The only relevant findings included degenerative changes in the inferior olives and, to a lesser extent, in the cerebellar cortex. The site of lesions was remarkable: in the inferior olives, lesions were bilaterally and symmetrically restricted to the external angles (lateral lamellae); in the cerebellum, loss of Purkinje cells and ascending fibres of the molecular layer was prominent in the lateralmost part of the hemispheres (semilunar lobules). Such a topography implies a system disorder involving the olivo-cerebellar pathway, particularly in that part which projects to the neocerebellum. Twelve other clinico-pathological cases of progressive myoclonus epilepsy of the degenerative group are reviewed. It is suggested that, here again, lesions--although more diffuse--may be related to a primarily olivo-cerebellar involvement.

A 59 year old man had a 20 year history of proximal muscle weakness and proximal and distal amyotrophy with areflexia and vocal cords paralysis. The EMG and muscular biopsy were compatible with a chronic spinal atrophy. The sister of this patient was said to be suffering from a similar syndrome. The only similar cases published are the cases inherited as an autosomal dominant trait reported by Young and Harper. They are differentiated by the distal predominance of the amyotrophy. These cases can be compared with the rare cases of hereditary laryngeal palsy which have also an autosomal dominant inheritance.

Seven patients with cancer presented a sensory peripheral neuropathy induced by cisplatinum. This drug was used alone in 1 case and, in 6 other cases it was associated with drugs without any toxicity for the peripheral nervous system. Every patient had an electromyogram and motor and sensory nerve conduction studies. A sural nerve biopsy was performed in 5 cases for light and electron microscopic studies as well as for teasing and quantitative studies. Electromyograms and motor nerve conductions were normal. Sensory nerve conductions were slowed with very low amplitude sensory action potentials. Such results suggested axonal changes. Nerve biopsies showed typical axonopathic changes with secondary demyelination. Morphometric studies confirmed a loss of myelinated fibers affecting the large fibers in all cases, according to the slowed sensory nerve conductions. This study confirmed that the cisplatinum-induced neuropathy is a new form of toxic distal axonal neuropathy. The hypothesis of a primary demyelination of peripheral nerves, which has been proposed, could not be retained.

A 34 year-old man had complained since childhood of weakness of the right lower limb. His mother had a myopathy. Examination showed weakness and amyotrophy of the antero-external regions of the legs, mainly on the left, moderate weakness of the right scapular girdle and slight facial weakness. Serum creatine kinase was increased. Electromyogram and CT scan images were of the myogenic type. Biopsy showed a centronuclear myopathy. The course was slowly progressive. Centronuclear myopathy is rare in adults. The facio-scapulo-humeral localization has been described in numerous other pathologic types of myopathy.

Three children born of consanguineous parents had Lafora's disease and two of them had been studied clinically, pathologically and biochemically. The autosomal recessive transmission of the disease is confirmed by the familial study and the parents present no phenotypic anomaly of the disease. Electroclinical data are discussed with regard to the early differential diagnosis between this entity and idiopathic generalised epilepsy and myoclonic epilepsy without Lafora's bodies. Iodine spectrum of the cerebral and hepatic abnormal deposits suggest that Lafora's bodies mainly consist of long chains glycogen similar to amylopectin.

The term benign monomelic amyotrophy embraces several types of juvenile amyotrophy of a limb progressing in two stages: first, constitution, then stabilization. Cases reported are in fact heterogeneous and require separation into categories. The cases presented here include: 1) true benign amyotrophy (4 cases); 2) localized forms of chronic sporadic (7 cases) or familial (2 cases) spinal amyotrophy; 3) developmental anomalies and phacomatosis (5 cases); 4) affections of inflammatory origin (4 cases); 5) cases classified as of uncertain but possibly central (1 case) or myosclerotic (1 case) origin, or with the single anomaly of type II fibres (1 case). Obviously that for differential diagnosis to be accurate diagnostic steps differ according to the site of lesions of the predominance upper or lower limbs.

Status epilepticus was a complicating feature of the last bout before the fatal outcome in a patient with a 11 years history of multiple sclerosis. The fits were seen as clonic movements of the eyes in a lateral direction, lasting for 30 to 90 seconds and repeated every 5 minutes on average. Electroencephalographic recordings demonstrated periodic slow spikes on the right hemisphere, starting in the anterior region. Neuropathological data eliminated an associated pathological condition and suggested that the development of acute cortico-subcortical demyelinating lesions was responsible of the epilepsy. The type of electrical activity observed, localized to one hemisphere, is found with recent ischemic lesions, and less frequently in cases of cerebral tumor, necrotizing encephalitis, metabolic encephalopathies or post traumatic disorders. A case with similar clinical and electroencephalographic features in a patient with multiple sclerosis has been reported in the literature.

Inclusion body myositis is now a well-known disease but its incidence is underestimated. We report 12 cases with clinical heterogeneity. Three groups of patients could be described. The first one corresponded to asymmetrical muscle involvement and distribution with a slow clinical course (4 cases). The second was characterized by a polymyositis-like syndrome (3 cas), but steroid therapy was ineffective. The last group mimicked a chronic spinal muscular atrophy (4 cases). One patient showed a scapuloperoneal syndrome. Both myopathic and neurogenic EMG patterns were present in 6 patients; a neurogenic pattern was found in 4 cases and a myopathic pattern in 2 cases. In all patients, muscle biopsies showed rimmed vacuoles with eosinophilic inclusions. In 9 cases ultrastructural studies displayed abnormal filaments of 15-18 nm in diameter in the vacuoles. Intranuclear filaments were rarely observed. The significance of the filaments is unknown and their specificity is doubtful because they are present in other myopathies with rimmed vacuoles (some distal myopathies and oculopharyngeal muscular dystrophies). Finally a rich inflammatory exudate was present in 8 patients only.

Four patients with typical signs of congenital muscular dystrophy (C.M.D.), as described in the literature, are reported. In two young sisters born from consanguineous parents the presenting signs were severe congenital hypotonia in one and hypotonia with arthrogryposis in the other. The two other cases were adult patients with a long standing disease, the onset haring been marked by a transient neonatal hypotonia in one and by a congenital torticollis in the other. All 4 patients had progressively increasing muscle retractions, with absent reflexes in three. C.P.K. was moderately increased in all patients. Electromyography demonstrated myopathic abnormalities in 3 cases, associated in 2 cases with misleading pseudo-neurogenic signs. MUscle biopsy showed non specific changes compatible with muscular dystrophy: fibrosis and/or fat involution was marked in all cases, while necrosis of fibers was rarely observed. Histoenzymology and morphometry confirmed the absence of lesion specificity and their results were variable from case to case. A review of 92 published cases demonstrated that the course of the disease is very variable. A fatal outcome occurs in 15% of cases, while the affection becomes worse or remains stable with about the same frequency. A progressive worsening of muscle retractions is a characteristic finding in C.M.D. Genetically, most cases are of recessive autosomic. The current nosology of C.M.D. is probably inadequate, the clinical picture including cases that are likely to be due to different mechanisms that 2 present methods of investigation cannot demonstrate.

Very few authenticated cases of benign muscular dystrophy affecting mainly the girdles and of dominant autosomal inheritance have been documented. Two families were seen with this type of transmission, and certain common characteristics noted: proximal weakness and amyotrophy, frequency of muscle contractures, mainly distal, true calf hypertrophy, slow progression and benign nature and finally a fairly uniform semiology in the same family, an atypical finding in dominant autosomal hereditary disease.

Kennedy's syndrome is usually classified among the progressive spinal amyotrophies. Scarce reports suggest the involvement of the peripheral nerves. Five cases are reported here with a decrease of the sensory potential amplitude. A pathological study in 4 of these cases showed lesions of the sensory nerve. The notion of neuronopathy is discussed because it underlines the physiological unity of the cellular body and of the axon and the difficulty to separate the reciprocal damage in certain pathological cases. It would be excessive to equate clinical and experimental cases in which the onset of the disease involves either the cellular body or the axon.

The case of 65 year old woman with progressive enlargement and "wooden" induration of the pelvic girdle and thigh muscles due to an amyloid infiltration is reported. Muscle changes appeared two years after a diagnosis of myeloma with free lambda light chains. The patient complained of muscle pain, lassitude and weakness. Macroglossia was present. Skeletal muscle (vastus lateralis) contained large amounts of amyloid substance and showed type 2B atrophy. There was no fiber type grouping. Some amyloid deposits abutted on the muscle fiber, destroyed the basal lamina and sarcolemma, but never infiltrated it. Besides the amyloid phagocytosis by macrophages, a relationship between amyloid filaments and fibroblasts was present. Another non-congophilic substance was revealed using the Avidin-Biotin peroxidase complex to localize lambda light chains by light microscopy and corresponded to a granular substance in electron microscopy. Clinicopathological results are discussed with a review of thirteen similar cases previously reported.

A case of distal amyotrophia is reported, in which there was associated isolated clinical and electrical myotonia. Nerve conduction rates were very reduced. The nerves showed rarefaction of nerve fibers with segmentary demyelinization and the formation of bulbar swellings. The signification of this observation is discussed, and it would not appear to be related to peripheral nerve lesions of the type sometimes seen in Steinert's disease or from an association of this affection with Charcot-Marie's disease. It would seem more reasonable to suggest the hypothesis of a particular type of association of a peroneal hypertrophic neuropathy and a myotonia similar to certain cases reported in the published literature.

The early diagnosis of Lafora's disease is often difficult, from primary generalized epilepsy and other progressive myoclonic epilepsies. The authors emphasize the diagnostic interest of paroxysmal visual manifestations, reported in only 25 per cent of the cases in the literature, and present in 17 of their 31 personal cases. These visual manifestations can be elementary or complex. The elementary ones appear often early, before other symptoms of the disease. Two demonstrative cases are reported. In one of them an occipital seizure was recorded, demonstrating the epileptic critical nature of these elementary visual manifestations. They have a high diagnostic value since they do not occur neither in primary generalized epilepsy (Grand Mal type), nor in the other progressive myoclonic epilepsies. In the 2 reported cases, skin biopsy, as proposed by Carpenter and Karpati, demonstrated the specific storage in the sweat ducts and glands. The interest of this skin biopsy is underlined, its positivity seeming both constant and specific in Lafora's disease.

Amyotrophy of cerebral origin was analyzed in 12 hemiplegics by means of comparative histological, histoenzymological, histographic and biochemical analysis of biopsies carried out in symmetrical zones. In the 6 cases in which atrophy predominated on the paralyzed side, it occurred early, the deficiency affecting the upper limb in particular and the sensory disturbance being irregular. Attempted numeration of the motor units remaining, according to the "incremential" method of stimulation, suggests a numerical reduction on the hemipelgic side. Despite reservations and general criticisms of this method, its comparative value, although approximate, must be acknowledged. However, although amyotrophy presumes a transsynaptic change in trophic function to have taken place in the peripheral neurone, neuronal depopulation--if one accepts it--cannot be other than functional.

Adrenomyeloneuropathy (AMN) was diagnosed in a 24 year old man. He had had acute periods of adrenal insufficiency since early infancy and had melanoderma, moderate mental deterioration, psychic disorders and, from 16 years of age, a spastic paraplegia. Confirmation diagnosis was obtained by the existence in the family of two definite cases (a brother and second cousin) and one probable case (a maternal uncle) of an adrenoleukodystrophy (ALD), by the demonstration of a peripheral neuropathy with characteristic lamellar inclusions in a sural nerve biopsy and by raised plasma very long chain fatty acids level. Multinodal study of evoked potentials showed anomalies due to changes in supraspinal central nervous system. Adrenoleukomyeloneuropathy or ALMN (the association within the same family of cases of AMN and ALD being possible as confirmed by the present case) is recessive and X - linked. It belongs to the peroxisomial diseases. No therapy has been proven effective on the neurological disease.