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. Her daughter developed foot drop at age 4. Progressive weakness of distal limb extensor muscles and mild weakness of the neck flexor and proximal muscles were noted. In both patients, CK and nerve conductions were normal, but EMG showed a brief, small amplitude, abundant, polyphasic potential pattern. Heart and respiration were normal. Several muscle biopsies have been performed in each with various diagnoses, including aspecific myopathic changes, congenital fibre type disproportion, and denervation-reinnervation. Analysis of MYH7 revealed a c.4522_4524del mutation (p.Glu1508del). This appears to be a de novo mutation, which has been reported in French, Norwegian, and Finnish patients.

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. METHODS: Mutation screening of SACS by direct sequencing and multiplex amplicon quantification for detection of intragenic copy number variations in a cohort of 85 index patients with phenotypes suggestive for ARSACS. Additional short tandem repeat (STR) marker analysis was performed for haplotype sharing. RESULTS: In 11 families,18 new SACS mutations were found (12.9% of total cohort). Five patients displayed onset ages in adulthood, a feature not known to be associated with ARSACS. The remaining index patients displayed a classic early onset phenotype. Initial phenotypic presentation was atypical in several patients, obscuring the clinical diagnosis. A founder mutation in SACS was identified in 3 Belgian families. In one isolated patient, an intragenic SACS deletion of exons 3-5 was detected. Partial SACS deletions were not previously described. CONCLUSIONS: In this study, we enlarge the ARSACS phenotype and the underlying genetic spectrum of SACS mutations. Patients with ARSACS are more common than previously known and risk underdiagnosis due to late onset age and unusual presentation.

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. The results of this survey were compared with results of a previous one done in 2003. RESULTS: Initial monotherapy was the preferred treatment strategy. Valproate was first choice in idiopathic generalized epilepsy. Carbamazepine and oxcarbazepine were first choice in focal epilepsy with partial seizures. Valproate was also first choice in focal epilepsy with secondarily generalized seizures. New antiepileptic drugs were recommended in second line. However, in special treatment situations, they were considered first-line, e.g. lamotrigine in case of women in childbearing age. In comparison with 2003, there was a trend of using earlier the new antiepileptic drugs. CONCLUSIONS: In end 2006, carbamazepine, valproate and oxcarbazepine were considered to be first choice drugs, whereas other newer drugs, like lamotrigine, levetiracetam and topiramate were predominantly prescribed in second line.

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. Valproate was the first choice in idiopathic generalized epilepsy (IGE) and carbamazepine in focal epilepsy (FE). The new antiepileptic drugs (AED) were usually recommended in second-line. However, in special treatment situations, they were considered first-line, e.g., lamotrigine in case of women of childbearing age. CONCLUSIONS: Neurologists reached consensus for most questions on epilepsy treatment. In 2003, monotherapy with valproate and carbamazepine was the common treatment strategy in Belgium, whereas lamotrigine and to a lesser extent levetiracetam, topiramate, and oxcarbazepine were predominantly prescribed in second-line. This is in agreement with the recently published UK epilepsy guidelines but not in agreement, however, with the US guidelines, that for new onset epilepsy, new and old drugs are equally effective. Belgian neurologists, except for some special situations still prefer old drugs as first line.

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. Major progress has been made in recent years and we are now waiting for the first large scale multi-center clinical trials that test the possible anti-epileptogenic properties of anti-epileptic drugs or other compounds in well defined patient groups. In clinical practice, a structured diagnostic work-up in all patients with recurrent seizures is a first and necessary step in the recognition of patients at risk for developing chronic and refractory epilepsy.

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. The findings in this report contradict those from previous reports that suggest diffusion-weighted imaging with quantitative apparent diffusion coefficients may be used in selecting patients for dural venous sinus thrombolysis.

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). After 1 year of treatment, 14 of the 15 patients who completed the study showed disease progression as evidenced by one or more of the following parameters: worsening of the EDSS score, clinical relapses, appearance of new lesions on MRI of the brain and brainstem, or increased latencies of visual or auditory evoked responses. These findings indicate that bromocriptine does not completely suppresses ongoing disease activity in patients with multiple sclerosis.

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. Our results confirm the value of penile electromyography as a way to objectivate penile smooth muscle atrophy as well as pelvic autonomic neuropathy with subsequent penile smooth muscle desynchronization. A neuromuscular dysfunction may be the causative factor in 39% of our impotent patients.

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. We describe the use of a DNA probe (p5B1.4) that can detect this mutation directly, improving the accuracy and speed of diagnosis. METHODS: We analyzed DNA extracted from the peripheral-blood lymphocytes of 112 unrelated patients with myotonic dystrophy and their families, using molecular genetic techniques. Southern blot analysis and amplification with the polymerase chain reaction were used to determine the extent of expansion of the unstable DNA sequence. RESULTS: Probe p5B1.4 allowed direct identification of the myotonic dystrophy mutation in 108 of the 112 unrelated patients. In three families for whom the clinical and genetic data obtained with linked probes were ambiguous, the probe identified persons at risk for symptoms of this disorder and demonstrated that a possible sporadic case of myotonic dystrophy was familial. In one of these families the size of the unstable myotonic dystrophy-specific fragment decreased on transmission to offspring, who remained asymptomatic. CONCLUSIONS: The diagnosis of myotonic dystrophy is improved by the use of a probe that detects directly the mutation responsible for this disorder.

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. Our patient developed ophthalmoplegia, suggestive of basal meningitis. He was treated with penicillin G and recovered completely.

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.

Recurrent brachial plexus neuropathy and giant cell arteritis.

A 73-year-old women presented with a recurrent form of sporadic brachial plexus neuropathy, the so-called Parsonage and Turner syndrome. This diagnosis is based on clinical and electromyographic findings. Interestingly a biopsy of the temporal artery demonstrated a giant cell arteritis. The clinical picture started 2 weeks after an upper respiratory tract illness. The possible viral etiology of giant cell arteritis is considered. We think an immunological rather than ischemic disturbance may have caused the recurrent brachial plexus neuropathy. This case report suggests that giant cell arteritis be considered in the investigation of the Parsonage and Turner syndrome.

Recurrent forms of sporadic brachial plexus neuropathy. A report of two cases.

Two patients presenting a relapsing form of sporadic brachial plexus neuropathy, the so-called Parsonage Turner syndrome, are reported. The diagnosis is based on clinical and electromyographic features. Recurrent attacks, although infrequently encountered, have been well described in the past. Sporadic cases of this syndrome must be differentiated from the familial varieties of neuralgic amyotrophy in which, two main subgroups of patients are distinguished: those showing facial dysmorphic features and those with findings of a tomaculous neuropathy predisposing them to pressure palsies. Apart from the obvious difference as regards familial occurrence, the familial and non-familial varieties of neuralgic amyotrophy differ in a number of respects: associated congenital defects, early age of onset and high rate of recurrence in the former. Finally some possible pathogenetic mechanisms of the syndrome are briefly reviewed.

Lymphocytic meningoradiculitis (Garin-Bujadoux Bannwarth): from syndrome to disease?

In two children with lymphocytic meningoradiculitis (Bannwarth's syndrome), IgG and IgM antibodies to Borrelia burgdorferi were demonstrated. Clinical and laboratory parameters of the syndrome are described and recent bacteriological and serological findings that link the syndrome to the American Lyme disease are discussed, as well as the effects of antibiotic treatment.

Unilateral seizures in a patient with hairy cell leukemia treated with interferon.

A patient is described who developed unilateral seizures whilst being treated with recombinant interferon for hairy cell leukemia. Special features included the relatively low dose of interferon, the focal aspect of the epilepsy and the high resistance to anticonvulsants. Oligoclonal banding of cerebrospinal fluid proteins may have resulted from polyclonal activation of bone marrow plasma cells during interferon treatment. Disturbances of consciousness, dysphasia, visual hallucinations, upper motor neuron deficit, tremor, dizziness, numbness, myalgia and headache, all of them neurological complications of interferon treatment, are discussed.