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Biomedical subjects

B de Toffol

Publications and source records attributed to B de Toffol.

At least 19 recordsLinked to original sources
PubMed2007

Bilateral hand amyotrophy with PMP-22 gene deletion.

Hereditary neuropathy with liability to pressure palsies (HNPP) phenotypes are heterogeneous. We report the case of a 52-year-old woman without medical history, who complained of bilateral hand weakness suggestive first of a motor neuron disorder. The presence of a diffuse predominant distal demyelinating neuropathy suggested a deletion of PMP-22 gene, which was confirmed by genetic analysis. This case report underlines a novel phenotype related to the deletion of PMP-22 gene.

Female↗
PubMed2006

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.

BACKGROUND: SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases. OBJECTIVES: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution. METHOD: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method. RESULTS: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number. CONCLUSION: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.

Adult↗
PubMed2006

[Thoracic outlet syndrome: an unusual postoperative complication].

UNLABELLED: Introduction. Neurogenic Thoracic Outlet Syndrome (NTOS) is a chronic lower trunk brachial plexus entrapment caused by a cervical rib or a fibrous band. True NTOS is rare and progresses usually slowly. Case report. A 12-year-old girl complained of numbness and weakness of the right upper limb immediately after an orthopedic surgical procedure for scoliosis. Neurological and neurophysiological features were both consistent with a neurogenic thoracic outlet syndrome (NTOS). CONCLUSION: This observation illustrates the risk of NTOS after certain surgical procedures, especially when a prolonged prone position with abducted shoulders is required.

Adult↗
PubMed2005

[Cyclosporin-induced toxic neuromyopathy].

INTRODUCTION: Cyclosporine is an immunosuppressive treatment whose side effects limit its usefulness. Among neurological side effects, neuropathies or myopathies have been reported, specially inpatients given combinations of cyclosporine with co-enzyme A reductase inhibitors. CASE REPORT: We report here the case of a 67-year-old woman who developed few months after a kidney graft sensorimotor disorders which progressed rapidly. Since all etiologies of such a disorder were ruled out, the hypothesis of toxicity exclusively induced by cyclosporine was suggested and confirmed by the improvement observed after its withdrawal. CONCLUSION: This observation highlights the fact that cyclosporine may induce neuromyopathies even when given alone at the therapeutic dosage.

Coenzyme A↗
PubMed2005

[Psychiatric comorbidity in patients with pseudoseizures: retrospective study conducted in a video-EEG center].

INTRODUCTION: Pseudoseizures involve a group of paroxysmal behavioral symptoms mimicking an epileptic seizure, but without modifications of cerebral electrical activity. PATIENTS AND METHOD: In this retrospective study focusing on mental disorders, 37 patients with pseudoseizures were recorded during video-EEG procedure. RESULTS: According to DSM-IV criteria, 70 percent of the patients had at least one mental disorder when evaluated. Diagnoses were, in decreasing order of frequency: post-traumatic stress disorders, other anxious disorders, somatoform disorders, dissociative disorders, and mood disorders. CONCLUSION: The strong association between pseudoseizures and post-traumatic stress disorders is discussed. Our results argue in favor of a systematic evaluation of psychiatric comorbidity.

Adult↗
PubMed2004

Improvement of a CIDP associated with hepatitis C virus infection using antiviral therapy.

A 57-year-old man with chronic inflammatory demyelinating polyneuropathy associated with hepatitis C virus infection was treated successfully with the combination of peginterferon-alpha-2b and ribavirin. Viral eradication was confirmed during the 4th week of treatment and was followed 3 weeks later by neurologic improvement. The patient resumed normal activity 1 year after the therapy was completed.

Antiviral Agents↗
PubMed2004

[Emergency EEG: actual indications and results].

PURPOSE: The indications of emergency electroencephalogram (eEEG) were defined by a French consensus conference in May 1996. We retrospectively confronted the recommendations with the actual requests for emergency EEG in our University hospital, in order to determine the contribution of the eEEG in the most frequent clinical situations encountered. MATERIAL AND METHOD: Three hundred and twenty nine consecutive eEEGs over a 6-months period were retrospectively analyzed. RESULTS AND CONCLUSION: The most frequent indications were presumption of brain death (13%), convulsive status epilepticus after treatment (12.1%), and suspicion of nonconvulsive epilepticus status (10.6%). More than one third of the requests (38.6%) were not in conformity with the recommendations of the consensus conference. The contribution of the EEG is much improved by the application of the consensual criteria. Thus, the EEG remains essential for the management of convulsive status epilepticus after treatment, to seek a subtle epilepticus status or a nonconvulsive epilepticus status. Conversely, the EEG did not prove useful in emergency after a transient loss or alteration of consciousness or a focal, non-febrile, neurological transient or permanent deficit.

Adolescent↗
PubMed2004

Unilateral spatial neglect following right inferior parietal cortectomy.

Research in brain-damaged patients has suggested that the right hemisphere plays a role in unilateral spatial neglect (USN), but provides only limited information for pinpointing the intraparietal localization of the lesions associated with this syndrome. We report a case of unilateral neglect in a patient who underwent a right inferior parietal cortectomy for refractory epilepsy without any macroscopic lesion. We describe the evolution of the neuropsychological disturbances observed at 3 and 24 months after cortectomy. This case illustrates the role played by the inferior parietal lobe and, particularly, the parietal opercule in USN syndrome, and provides strong "experimental" evidence of the special role played by the inferior parietal lobule in the perception processes related to spatial attention.

Epilepsy↗
PubMed2004

[Ehlers Danlos type IV syndrome presenting with simultaneous dissection of both internal carotid and both vertebral arteries].

INTRODUCTION: Dissection of cervical arteries is a frequent cause of stroke in young subjects. CASE REPORT: We report the case of a 34-year-old patient who experienced simultaneous dissection of both internal carotid arteries and both vertebral arteries leading to repeated motor deficit of the right half-body associated with persistent otalgia. Search for an etiology led to the diagnosis of Ehlers-Danlos syndrome type IV. CONCLUSION: Search for the cause of cervical artery dissection must consider connective tIssue disease, particularly vascular forms of Ehler-Danlos syndrome. Diagnostic, therapeutic as well as prognostic aspects are discussed.

Adult↗
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

[Psychopathology in medically refractory partial seizures].

Today, psychopathology in medically refractory partial seizures is well-known. Descriptive (syndromic) classifications of both epileptic syndromes and psychiatric disturbances associated with prospective psychiatric status evaluations in resective epilepsy surgery centers in order to prevent poor post surgical outcome have increased our knowledge of the mental status of these patients. Three major categories of psychiatric comorbidities are observed. 1. Specific post ictal syndromes related to seizures (post ictal psychoses and post ictal depressive disorders). 2. Interictal psychiatric disorders: depression appears to be the most prevalent psychiatric condition in medically refractory seizures followed by anxiety and psychotic states. 3. Psychiatric adverse events of antiepileptic drugs according to the numerous new available drugs. There are no published guidelines. We are challenged both as clinicians and as an academic community. We need to improve identification, better utilize existing therapies and promote the development of prospective trials devoted to the study of psychiatric status in presurgical evaluation. A psychiatrist must be included in presurgical teams.

Anticonvulsants↗
PubMed2003

[Acute motor axonal neuropathy, enterovirus and Amyotrophic lateral sclerosis: can there be a link?].

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of both upper and lower motor neurons. Acute motor axonal neuropathy (AMAN) affects only the lower motor neuron and occurs, in the majority of cases, after an infection. To date, the etiology of ALS remains unknown but seems multifactorial. A 60 year-old man with a past medical history of AMAN developed ALS 9 years later. At that time, genomic sequences of enterovirus (echovirus 6 and 7) were detected in cerebrospinal fluid by RT-PCR. This particular succession led to discuss a possible link between theses two disorders and consequently the involvement of enterovirus in the development of ALS.

Amyotrophic Lateral Sclerosis↗
PubMed2003

[Functional brain lateralization in children: developmental theories and implication for developmental diseases].

The functional specialization of each hemisphere in adults is now well accepted. Neuropsychology of hemispheric functioning in young children is a more debatable issue and must take into account additional factors such as development and maturation, characterized by complex changes in anatomy and organization. The first part of this review describes the theory behind the development of the functional organization of the brain. Second, we discuss data regarding brain lesions in children with brain damage and with normal development. We comment on the concept of plasticity and the critical period. We also discuss the neurobiological processes underlying the functional organization of the brain in the model of developmental disorders in children. We chose three disorders involving the left hemisphere (developmental dysphasia), both hemispheres (benign rolandic epilepsy) or the right hemisphere (congenital hydrocephalus) in order to examine their relationship to a specific hemispheric functional organization. We used classic neuropsychological tests such as the dichotic listening task, the dichaptic palpation and the time-sharing paradigm. The patterns observed in each pathology are discussed in light of data obtained in children with brain lesions.

Child Development↗