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T Maisonobe

Publications and source records attributed to T Maisonobe.

At least 19 recordsLinked to original sources
PubMed2006

Parkinson's disease with camptocormia.

BACKGROUND: Camptocormia is defined as an abnormal flexion of the trunk that appears when standing or walking and disappears in the supine position. The origin of the disorder is unknown, but it is usually attributed either to a primary or a secondary paravertebral muscle myopathy or a motor neurone disorder. Camptocormia is also observed in a minority of patients with parkinsonism. OBJECTIVE: To characterise the clinical and electrophysiological features of camptocormia and parkinsonian symptoms in patients with Parkinson's disease and camptocormia compared with patients with Parkinson's disease without camptocormia. METHODS: Patients with parkinsonism and camptocormia (excluding patients with multiple system atrophy) prospectively underwent a multidisciplinary clinical (neurological, neuropsychological, psychological, rheumatological) and neurophysiological (electromyogram, ocular movement recording) examination and were compared with age-matched patients with Parkinson's disease without camptocormia. RESULTS: The camptocormia developed after 8.5 (SD 5.3) years of parkinsonism, responded poorly to levodopa treatment (20%) and displayed features consistent with axial dystonia. Patients with camptocormia were characterised by prominent levodopa-unresponsive axial symptoms (ie, axial rigidity, gait disorder and postural instability), along with a tendency for greater error in the antisaccade paradigm. CONCLUSION: We suggest that (1) the salient features of parkinsonism observed in patients with camptocormia are likely to represent a specific form of Parkinson's disease and camptocormia is an axial dystonia and (2) both camptocormia and parkinsonism in these patients might result from additional, non-dopaminergic neuronal dysfunction in the basal ganglia.

Aged↗
PubMed2006

[Histopathological features of chronic inflammatory demyelinating polyradiculoneuropathy].

Chronic inflammatory demyelinating polyneuropathy (CIDP) was proposed by Dyck et al. in 1975. Diagnosis was based mainly on nerve biopsy features with segmental demyelination, onion bulb formation and inflammatory infiltrates. In many pathological studies, frequencies of these features of CIDP were not observed in the same percentages. Limitations on the nerve biopsy were explained by the study of small, distal, only sensory nerve specimens in the lower limb. In recent years, the usefulness of nerve biopsy has been reconsidered. If electron microscopy and teased-fiber studies are used, the examination can recognize CIDP erroneously classified as chronic idiopathic axonal polyneuropathy. Therapeutic options should be guided by suggestive abnormalities of demyelination and or inflammation on nerve biopsy even in the presence of a electrophysiologic axonal pattern.

Biopsy↗
PubMed2006

Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey.

Hypohidrosis is a classic feature of Fabry disease; in contrast, hyperhidrosis has only been rarely described. The aim of the study is to characterise the baseline descriptive data on hyperhidrosis (frequency, age at onset, sex ratio and outcome with and without enzyme replacement therapy) in hemizygous male and heterozygous female patients with Fabry disease. We describe case histories of five patients with Fabry disease and hyperhidrosis seen at three different centres. We have also analysed a cohort of 21 paediatric patients in the UK and a large European cohort of patients enrolled in the Fabry Outcome Survey (FOS). Five patients (three female, two male) with hyperhidrosis were originally identified, although each had additional symptoms related to Fabry disease. The age at onset of hyperhidrosis was less than 18 years in four cases. In the cohort of 21 paediatric patients (12 female, nine male), one female had hyperhidrosis; the age at onset of this symptom was 11 years. In the FOS cohort, 66 of 714 patients with Fabry disease had hyperhidrosis (44 of 369 females, 11.9%; 22 of 345 males, 6.4%). The female predominance was observed in seven of nine countries from which data were analysed. Hyperhidrosis is an increasingly recognised feature of the Fabry disease phenotype. It is more prevalent in females than in males and often appears in childhood or adolescence. The efficacy of enzyme replacement therapy on this recently recognised symptom should be assessed.

Adolescent↗
PubMed2005

[Idiopathic lumbosacral plexopathy].

INTRODUCTION: Lumbosacral plexopathy is the equivalent in the lower limbs of neuralgic amyotrophy (also known as Parsonage-Turner syndrome) in the upper limbs. It is well-known in patients with diabetes mellitus, when it is known as Bruns-Garland syndrome. CASE: We report the case of a 47-year-old woman who developed a unilateral neuropathy of the leg, neither radicular nor truncal in origin. The slow continuous improvement was not affected by any of the treatments administered. DISCUSSION: Lumbosacral plexopathy is characterized by intense pain in one or both legs, associated with motor and sensory deficits. Recovery is usually slow (6 to 36 months) and often incomplete. The electrodiagnostic examination shows important acute motor and sensory axonal loss, characterized by denervation and low-amplitude sensory action potential. Treatment generally combines analgesics with narcotic agents, neuropathic pain medication, short-term corticosteroids, and rehabilitation. In the most severe cases, long-term corticosteroids and other immunosuppressive agents may be required. This diagnosis cannot be reached until all other radicular, plexal and truncal origins have been ruled out.

Female↗
PubMed2005

[Chronic inflammatory demyelinating polyradiculoneuropathy: diagnostic strategy. Guidelines of the French CIDP study group].

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) comprises a group of dysimmune neuropathies easily diagnosed in more than half of the patients. Diagnosis is based on clinical, electrophysiological and biological clues. In some patients, diagnosis is unclear because of the debated value of the available clues. In such circumstances, dysimmune neuropathies may not be diagnosed, leading to insufficient treatment. This is an important category of patients because immunomodulatory drugs have proven efficacy. The CIDP spectrum includes a relatively wide range of diseases. Besides the easily recognized classic forms, there are many clinical variants, sometimes with a paucisymptomatic presentation leading to uncertain diagnosis. The French CIDP study group has established guidelines for diagnostic strategy in CIDP patients. The first part of this paper is devoted to the clinical aspects of the disease, classical forms and variants. In the second part, the results of electrophysiological studies are reported. In a third chapter, complementary examinations useful for diagnosis are discussed. The fourth chapter deals with the diagnostic strategy, discussed in relation to the different situations which may be encountered in clinical practice. details the technical modalities of appropriate electrophysiological studies and presents normal results together with those indicating demyelinating neuropathy. Nerve biopsy technique and results are given in appendix II.

Humans↗
PubMed2005

Familial inflammatory inclusion body myositis.

OBJECTIVE: To compare familial inflammatory inclusion body myositis (IBM) with hereditary inclusion body myopathies and sporadic IBM. PATIENTS AND METHODS: Clinical, biological, MRI, and histological data were analysed in two siblings with inflammatory IBM and compared with those of patients with sporadic and hereditary IBM. RESULTS: Both patients had a clinical phenotype of sporadic IBM, which differs from hereditary myopathies because of late age of onset--respectively 65 and 66 years, and different pattern of muscular involvement--asymmetric, mainly distal but also involving quadriceps. MRI showed selective fatty infiltration and oedema in the extensor compartment of thigh muscles. The diagnosis of IBM was confirmed by muscle biopsy, showing muscle fibres containing numerous rimmed vacuoles, a characteristic shared by all types of IBM. In contrast with hereditary IBM, histological analysis also showed inflammatory mononuclear infiltrate invading non-necrotic fibres, ragged red and oxidase c negative fibres, and positive Congo red staining. Moreover, HLA class II typing disclosed DR beta 1 0301 haplotype, which is significantly related to sporadic but not to hereditary IBM. With steroid treatment and monthly intravenous immunoglobulins, the disease was stabilised in both patients at protracted follow up. CONCLUSION: Sporadic and familial inflammatory IBM share the same clinical, biological, MRI, and histological features.

Aged↗
PubMed2004

Follow-up study and response to treatment in 23 patients with Lewis-Sumner syndrome.

Lewis-Sumner syndrome (LSS) is a dysimmune peripheral nerve disorder, characterized by a predominantly distal, asymmetric weakness mostly affecting the upper limbs with sensory impairment, and by the presence of multifocal persistent conduction blocks. The nosological position of this neuropathy in relation to multifocal motor neuropathy (MMN) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is still debated. We report the clinical, biological and electrophysiological features, the course and the response to treatment in 23 LSS patients. The initial symptoms started in the distal part of an upper limb in 70% of patients. They were sensorimotor in 65% and purely sensory in 35% of patients. A cranial nerve involvement was observed in 26% of patients and a distal limb amyotrophy in 52%. The CSF protein level was normal in 67% of patients and mildly elevated in the remainder. None had serum anti-GM1 antibodies. There were multiple motor conduction blocks (average of 2.87/patient), predominantly located in the forearm, whereas demyelinating features outside the blocked nerves were rare. Abnormal distal sensory potentials were found in 87% of patients. The electrophysiological pattern suggests a very focal motor fibre demyelination sparing the nerve endings, whereas sensory fibre involvement was widespread. The course was chronic progressive in 71% of patients and relapsing-remitting in the others. During the follow-up study (median duration of 4 years), half of the patients progressed with a multifocal pattern and the distribution of the motor deficit remained similar to the initial presentation. The other patients showed a progression to the other limbs, suggesting a more diffuse process. Fifty-four percent of the patients treated with intravenous immunoglobulin showed an improvement, compared with 33% of the patients treated with oral steroids. Overall, 73% of patients had a positive response to immune-mediated therapy. LSS may be distinguished from MMN by the presence of sensory involvement, the absence of serum anti-GM1 antibodies and, in some cases, a positive response to steroids. In some of the patients in our study, LSS evolved into a more diffuse neuropathy sharing similarities with CIDP. Others had a clinical course characterized by a striking multifocal neuropathy, which suggests underlying mechanisms different from CIDP. Overall, whatever the clinical course, LSS responded to immune-mediated treatment in a manner similar to CIDP.

Action Potentials↗
PubMed2004

[Demyelinating neuropathy and Sjögren's syndrome: a diagnostic pitfall].

INTRODUCTION: Neuropathies induced by Sjögren's syndrome (SS) are usually axonal. Nevertheless some demyelinating neuropathies have been described in patients with SS. To date, the relationship between demyelinating neuropathies and SS remains imprecise. CASE REPORT: A 75 year-old man presented with a chronic history of sensory disturbances linked to demyelinating neuropathy. Electroneuromyography revealed a demyelinating neuropathy and complementary tests revealed both Sjögren's syndrome (SS) and HMSN IA. CONCLUSION: We suggested that an inherited affection might be researched before considering that demyelinating neuropathy might be a form of peripheral nervous system involvement in SS.

Aged↗
PubMed2004

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric genes. However, extensive genetic screening failed to identify a mutation in about a third of cases. One possible explanation is that other diseases, caused by other genes, may mimic HCM. OBJECTIVE: To investigate the possible involvement of Danon's disease, an X linked lysosomal disease, in a large population of patients with HCM. METHODS: A population of 197 index cases was considered; 124 were subsequently excluded because of a mutation in sarcomeric genes and 23 because of autosomal dominant inheritance. Fifty index cases were therefore included in molecular analysis (direct sequencing) of the lysosome associated membrane protein 2 (LAMP2) gene responsible for Danon's disease. RESULTS: Two new mutations leading to premature stop codons were identified in patients who evolved towards severe heart failure (< 25 years old): 657C>T and 173_179del. The prevalence was therefore 1% of the total population (two of 197) or 4% of enrolled index cases (two of 50). Interestingly, Danon's disease was responsible for half of the cases (two of four) with HCM and clinical skeletal myopathy but was not involved in isolated HCM (none of 41). CONCLUSIONS: Danon's disease may be involved in patients with previously diagnosed as HCM. A diagnosis strategy is proposed. To distinguish HCM from Danon's disease is important because the clinical evolution, prognosis, mode of inheritance, and therefore genetic counselling are very different.

Adolescent↗
PubMed2004

[The hypolossal-facial anastomosis in man. A model for studying peripheral and central nervous system plasticity].

Hypoglossal-facial anastomosis (HFA) is a cross-over between the proximal stump of the hypoglossal nerve (XII) and the distal one of the facial nerve (VII). The hypoglossal axons regrow within the sheaths of facial fibres, allowing the progressive reinnervation of the facial muscles. This model is interesting to study some mechanisms of plasticity of the nervous system for several reasons: 1) It is a quite simple and reproducible model of pathophysiological state. It allows the study of 2) the modifications of the nervous system induced by the HFA, both upwards and downwards to the lesion and 3) the modifications of reflex activities involving intrapontine connections such as the blink reflex. The electrophysiological features of the trigemino-facial (TF) and trigemino-hypoglossal (TG) connections demonstrated that a central reorganisation of the blink reflex (BR) was induced by HFA: the afferent volleys of the TF and TH reflexes elicited by cutaneous and mucosal trigeminal afferents respectively have been shown to project onto common interneurones located within the trigeminal principal sensory nucleus. A long-term prospective study showed: 1) a reinnervation of the facial muscles by the hypoglossal axons is a necessary perequisite for the central reorganisation of BR, 2) a hyperinnervation of the facial muscles by the hypoglossal axons, 3) a transient and regressive cross-innervation of paralyzed face by the healthy contralateral facial nerve.

Central Nervous System↗
PubMed2003

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.

Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type differentiation on muscle biopsies. Their results show that DM2 patients display a subpopulation of type 2 nuclear clump and other very small fibers and, hence, preferential type 2 fiber atrophy in contrast to type 1 fiber atrophy in DM1 patients.

Adult↗
PubMed2003

Polyneuropathy associated with IgG/IgA monoclonal gammopathy: a clinical and electrophysiological study of 15 cases.

Peripheral neuropathy has been widely reported in patients with monoclonal gammopathy (MG), more frequently immunoglobulin M (IgM) or IgG than IgA. Nevertheless, it remains unclear whether this association has clinical or pathogenic relevance. In order to clarify the possible role of IgG/IgA MG in neuropathy, we studied the clinical and electrophysiological features of 15 consecutive patients with polyneuropathy and IgG/IgA-MG, and compared them to those of 40 patients with polyneuropathy associated with IgM-MG, previously reported. Nine middle-aged patients (60%) had a chronic progressive or relapsing demyelinating polyneuropathy (DP) that was clinically and electrophysiologically indistinguishable from classic chronic inflammatory demyelinating polyneuropathy (CIDP) and frequently responded to immunosuppressive treatments, both characteristics supporting a dysimmune process. Six older patients (40%) had a chronic axonal distal polyneuropathy similar to the so-called chronic cryptogenic sensory polyneuropathy: there was no clear relationship with the MG in these patients and the response to immunosuppressive treatments was poor. Several features allowed us to distinguish between polyneuropathies associated with IgG/IgA-MG (IgG/IgA-PN) considered together and polyneuropathies associated with IgM-MG (IgM-PN). In the first group, the proportion of patients with a predominantly sensory clinical picture (27%) was less than that in the second group (75%), and there were fewer changes in nerve conduction studies. In addition, we found that the nine patients with DP associated with IgG/IgA-MG (IgG/IgA-DP) differed from the 31 with DP associated with IgM-MG (IgM-DP): clinical and electrophysiological studies clearly showed that the demyelinating pattern was more heterogeneous in IgG/IgA-DP than in IgM-DP. The spectrum of polyneuropathies associated with IgG/IgA-MG is heterogeneous, including DP, which is similar to classic CIDP, and axonal polyneuropathy, in which the pathogenic role of the MG remains elusive. In addition, IgG/IgA-DP differ from IgM-DP on clinical and electrophysiological grounds, suggesting probable different physiopathological mechanisms.

Adrenal Cortex Hormones↗
PubMed2003

[Myopathy-lipomatosis associated with A8344G mitochondrial DNA mutation].

We report the clinical features of two unrelated patients, a 51-year-old woman and a 54-year-old man, presenting proximal myopathy with lipomatosis. In both patients, muscle biopsies showed numerous ragged-red fibers. Molecular analysis were performed with denaturating gradient gel electrophoresis (DGGE) on muscle, blood, hair, buccal and urinary cells. The A8344G mutation of the tRNA-lysine gene of the mitochondrial DNA was detected in all tissues at high levels (more than 80 p cent). None of the patients had a contributive family history, and signs of central nervous system involvement were absent. These observations confirm that lipomatosis may be encountered in mitochondrial disorders and is tightly associated with the A8344G mutation.

Adenine↗
PubMed2002

Results and long-term followup of intravenous immunoglobulin infusions in chronic, refractory polymyositis: an open study with thirty-five adult patients.

OBJECTIVE: Polymyositis is a rare inflammatory muscular disease of unknown cause. Corticosteroids and immunosuppressive drugs are the first choice of therapy but are not always effective and may cause serious side effects. Many studies have shown that polyvalent intravenous immunoglobulin (IVIG) may be of interest for the treatment of dermatomyositis. We carried out an open, prospective study to evaluate the efficacy of IVIG in subjects with polymyositis that was refractory to traditional treatments, and we evaluated the benefits of this therapy over a long-term period of followup. METHODS: Thirty-five adult white patients (20 female, 15 male, mean age 43.5 years [SD 16.8]) with chronic, refractory polymyositis were treated with high doses of IVIG, after the patients had received the following traditional treatments: prednisone (n = 35), methotrexate (n = 24), azathioprine (n = 13), cyclophosphamide (n = 4), cyclosporine (n = 7), chlorambucil (n = 1), plasmapheresis (n = 8), lymphopheresis (n = 1), and total body irradiation (n = 1). There had been no changes in the patients' treatment in the 2 months before the initiation of IVIG therapy, and doses were not increased during IVIG treatment. We used preparations of polyvalent human IVIG with increased concentrations of intact IgG. The patients received 1 gm/kg/day for 2 consecutive days per month. The mean course of treatment was 4-6 months. The clinical assessment involved the evaluation of proximal muscle power, muscle disability scale score, and esophageal disorders. The biochemical evaluations carried out before each treatment period were compared by Student's t-test and nonparametric Wilcoxon test. Results were considered to be significant at P = 0.05. RESULTS: In the short-term, significant clinical improvement was noted in 25 of the 35 patients (71.4%). Mean muscle power was estimated before and after IVIG therapy and was found to be significantly improved (P < 0.01). All patients had a significant biochemical response. Mean creatine kinase levels during IVIG therapy decreased significantly before the fourth IVIG perfusion (P < 0.01). Side effects, usually minor, were noted in 6 patients. This benefit allowed the initial prednisone dose to be reduced by >50% in all patients. The mean (+/- SD) followup time for the 25 patients who responded favorably to IVIG treatment was 51.4 +/- 13.1 months. Twelve of these 25 patients remained in full remission following their initial course of IVIG, resulting in complete stoppage of medication in 5 patients or low doses of steroids in 7 patients. The condition of 6 patients remained improved and no other drugs were prescribed, but the patients remained dependent on IVIG infusions. Seven of the 25 patients who responded well to IVIG treatment relapsed at an average of 17.1 months (range 4-23 months) after the discontinuation of IVIG. CONCLUSION: IVIG is an interesting therapy for the treatment of polymyositis, with results showing that the condition of approximately 70% of the patients tested improved. After the discontinuation of the IVIG therapy, the efficacy remained stable in 50% of the patients, with a followup of over 3 years.

Adult↗
PubMed2002

Anterior interosseous nerve and multifocal motor neuropathy.

We report the case of a 47-year-old woman with a left anterior interosseous nerve palsy. Surgical release of the anterior interosseous nerve was initially proposed, but electrodiagnostic evaluation demonstrated that the neuropathy was due not to compression or to neuralgic amyotrophy but to a proximal conduction block. At that time, the conduction block could be defined only by indirect electrodiagnostic criteria. A multifocal motor neuropathy with persistent conduction block was subsequently diagnosed, and the patient was treated with intravenous immunoglobulins. The efficacy of this treatment and the subsequent disclosure of conduction block in the right posterior interosseous and peroneal nerves definitively confirmed the multifocal motor neuropathy.

Female↗