Laing early-onset distal myopathy in a Belgian family.

We report the first Belgian family with Laing early-onset distal myopathy (MPD1). The proposita started limping at age 7. Later, there was severe weakness of proximal and distal muscles, including neck flexors.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not known. To explore the clinical spectrum and pathobiology, we screened the MYH7 gene in 88 patients from 21 previously unpublished families presenting with distal or generalized skeletal muscle weakness, with or without cardiac involvement.

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.

One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family member had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles.

Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.

We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia.

Mutations in SACS cause atypical and late-onset forms of ARSACS.

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurodegenerative disorder caused by mutations in SACS. The phenotype consists of a childhood-onset triad of cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs.

Objective: To provide more insight into the prevalence of SACS mutations and the variability of the associated phenotype.

Opinion of Belgian neurologists on antiepileptic drug treatment in 2006: Belgian study on epilepsy treatment (BESET-2).

Objectives: (i) To describe the medical treatment of epilepsy in Belgium in 2006, (ii) to detect the presence or absence of consensus in epilepsy treatment and (iii) to analyze the evolution of the neurologists' opinion between 2003 and 2006.

Materials And Methods: In December 2006, 100 neurologists were interviewed with a structured questionnaire, based on ordinal four-point scales. The questionnaire contained questions on treatment choices in adult patients with epilepsy.

Fatigue as the presenting symptom of chronic inflammatory demyelinating polyneuropathy.

Different clinical presentations of chronic inflammatory demyelinating polyneuropathy (CIDP) have been described. Fatigue is generally considered to be a secondary sign and is not mentioned as a warning sign for the diagnosis. We present a patient with CIDP in whom fatigue remained the only symptom, hereby stressing the importance of adding this disease to the differential diagnosis of fatigue.

Impact of reimbursement restrictions on the choice of antiepileptic drugs: Belgian Study on Epilepsy Treatment (BESET).

Background: In Belgium, new and costly antiepileptic drugs (AEDs) are only reimbursed as second-line treatment, after documented treatment with conventional and cheaper AEDs has failed. The objective of this study was to describe the treatment of epilepsy in Belgium and to analyze the impact of the reimbursement restrictions on the choice of AEDs.

Methods: Between May and June 2003, a sample of 100 neurologists, representative of the entire neurological community in teaching, academic, and regional hospitals in Belgium, were personally interviewed on the basis of a structured questionnaire (modified Rand method).

Opinion of Belgian neurologists on antiepileptic drugs: Belgian Study on Epilepsy Treatment (BESET).

Objectives: To describe the choice of treatment in adult patients with epilepsy in Belgium, to detect the presence or absence of consensus among neurologists in epilepsy treatment, and to analyze the gaps between current guidelines and prescriptions.

Materials And Methods: Hundred Belgian neurologists were systematically interviewed between May and June 2003 using a structured questionnaire (modified Rand method).

Results: Initial monotherapy was the preferred treatment strategy.

Standards of care for non-convulsive status epilepticus: Belgian consensus recommendations.

Non-convulsive status epilepticus (NCSE) makes up around one-third of all cases of SE, affecting approximately 1,000 to 4,000 individuals per year in Belgium. Compared with convulsive SE, NCSE has received considerably less attention, is underdiagnosed and undertreated. However, if recognised, NCSE can however be treated successfully.

Standards of care for adults with convulsive status epilepticus: Belgian consensus recommendations.

Status epilepticus (SE) is a significant health problem, affecting approximately 1,000 to 4,000 individuals per year in Belgium. A workshop was convened by a panel of neurologists from major Belgian centers to review the latest information relating to the definition, diagnosis and treatment of convulsive SE. The panelists sought to make recommendations for practising neurologists, but also primary care physicians and physicians in intensive care units when initiating emergency measures for patients with convulsive SE.

Epilepsy and driving in Belgium: proposals and justification.

Proposals about the regulations and medical criteria concerning epilepsy and driving, originally drawn up by the Commission on Epilepsy and Risk from the Belgian League against Epilepsy were discussed and amended by a panel of representatives of several scientific societies and of all Belgian universities in order to establish a broad consensus among Belgian epileptologists. The history of driving licencing in Belgium is discussed and some background information given to put the regulations in perspective. A proposal is made for an acceptable level of risk.

Ropivacaine 3.75 mg/ml, 5 mg/ml, or 7.5 mg/ml for cervical plexus block during carotid endarterectomy.

Objective: To examine the effect of 225 mg (7.5 mg/mL), 150 mg (5 mg/mL), and 112.5 mg (3.

Anti-epileptogenesis research: the clinical relevance.

In recent years, different research lines have examined the epileptogenic process in order to understand the different stages in this process, and with the hope that early recognition and intervention could prevent chronic epilepsy in patients with epileptic seizures. In animals, acquired epilepsy is studied most commonly with kindling models, status epilepticus models and traumatic brain injury models. Molecular genetic studies substantially help to understand age-specific channel and receptor abnormalities.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

Charcot-Marie-Tooth type 2B (CMT2B) is clinically characterized by marked distal muscle weakness and wasting and a high frequency of foot ulcers, infections, and amputations of the toes because of recurrent infections. CMT2B maps to chromosome 3q13-q22. We refined the CMT2B locus to a 2.

Diffusion-weighted MR imaging of an acute venous stroke: case report.

A patient with a superior sagittal sinus thrombosis had progressively worsening symptoms and signs that resolved after IV heparin therapy. MR imaging revealed abnormalities in diffusion, similar to those seen with acute arterial stroke. Abnormalities shown on a T2-weighted fast spin-echo and fluid-attenuated inversion recovery images resolved completely.

Tarsal tunnel syndrome: ultrasonographic and MRI features.

Tarsal tunnel syndrome is a well-known but rare entrapment neuropathy involving the posterior tibial nerve in the tarsal tunnel, a fibro-osseous channel extending from the medial aspect of the ankle to the midfoot. Posttraumatic fibrosis, ganglion cyst, tenosynovitis, tumor of the nerves or other structures, dilated or tortuous veins can cause significant nerve compression in this anatomic region. Herein, we present the typical ultrasonographic and magnetic resonance features of this disorder in patient with a ganglion cyst.

Bromocriptine therapy in multiple sclerosis: an open label pilot study.

Bromocriptine suppresses the duration and severity of clinical signs of experimental allergic encephalitis, which is considered as an animal model for multiple sclerosis (MS). We conducted an open pilot study with 2.5 mg of bromocriptine two times a day on 18 patients with clinically or laboratory-supported definite MS (10 with the relapsing-remitting form and eight with the chronic progressive form).

Penile electromyography in the diagnosis of impotence.

Cavernous electromyography of the flaccid penis was done in 93 impotent patients that were evaluated with several types of electrodes. We found that the potentials are generated by the cavernous tissue and are not the reflections of distant electromyographic events. Using monopolar needle electrodes, accurate interpretation of the electromyographic tracings seems possible.

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.

Background: Myotonic dystrophy is the most common inherited form of muscular dystrophy affecting adults. Its symptoms are not confined to muscle, and variability in their nature and in the patient's age at their onset can make diagnosis difficult. A specific unstable DNA sequence associated with myotonic dystrophy has recently been identified.

Kingella kingae, a rare cause of bacterial meningitis.

A male adolescent with a history of pharyngitis developed meningitis due to Kingella kingae. This is a Gram-negative coccobacillus belonging to the family of Neisseriaceae. It is a rarely reported human pathogen, from which only 2 cases of meningitis have been described up to the present day.

Solitary dorsal intramedullary schwannoma. Case report.

A case of solitary dorsal intramedullary schwannoma diagnosed by magnetic resonance imaging and treated surgically is reported. The authors review the previously published cases. The possible etiology of the tumor as well as some difficulties encountered in the diagnostic procedure and treatment are discussed.