Publications by authors named "Veronique Bissay"

Background: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect.

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Article Synopsis
  • - International guidelines for myasthenia gravis (MG) exist, but a group of Belgian experts provides tailored recommendations specifically for managing MG in Belgium, focusing on both generalized (gMG) and ocular myasthenia gravis (oMG).
  • - Treatment strategies are based on the efficacy of different therapies, their approval and reimbursement status in Belgium, everyday clinical practices, and the authors' personal experiences, reflecting the latest knowledge as of February 2024.
  • - The publication also covers important factors for MG management, including handling comorbidities, avoiding drugs that worsen symptoms, considerations for pregnant patients, vaccination, and a forward-looking perspective on potential new treatments in the future.
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Purpose: The aim of the present study was to evaluate the role of ejection fraction (EF), left ventricular (LV) global longitudinal strain (LVGLS) and global constructive work (GCW) as prognostic variables in patients with cardiac amyloidosis (CA).

Methods: CA patients were retrospectively identified between 2015 and 2021 at a tertiary care hospital. Comprehensive clinical, biochemical, and imaging evaluation including two-dimensional (2D) echocardiography with myocardial work (MW) analysis was performed.

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Myotonia congenita is a rare neuromuscular disorder caused by mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a family with autosomal dominant myotonia congenita and Brugada syndrome.

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Background: A growing number of Guillain-Barré syndrome (GBS) and Miller Fisher Syndrome (MFS) cases following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection are reported. Nevertheless, this association is still debated, and pathophysiology remains unclear.

Methods: Between April and December 2020, in three hospitals located in Brussels, Belgium, we examined four patients with GBS following SARS-CoV-2 infection.

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Introduction: Mutations in the Dok-7 gene (DOK7) underlie a congenital myasthenic syndrome (CMS) with a characteristic limb-girdle (LG) pattern of muscle weakness. Multiple clinical findings and a wide clinical heterogeneity have been identified in this form of CMS.

Methods: We describe here 2 unrelated adult patients who presented with a LG CMS, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.

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Tick borne encephalitis (TBE) is an infectious zoonotic disease caused by an RNA virus that is endemic to Central and Eastern Europe, Russia, and large parts of Asia. The tick borne encephalitis virus (TBEV) is transmitted through the saliva of infected ticks and infected goat milk. In the vast majority of cases, an infection with TBEV has a subclinical course.

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Objectives: Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options.

Results: Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms.

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SCN5A mutations involving the α-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome. On the other hand, mutations in SCN4A encoding the α-subunit of the skeletal voltage-gated sodium channel (NaV1.

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Natalizumab (Tysabri(®)) is highly efficacious in controlling disease activity in relapsing multiple sclerosis (MS) patients. As it is one of the more recent therapies for MS, there remains a need for long-term safety and efficacy data of natalizumab in a clinical practice setting. The Tysabri observational program (TOP) is an open-label, multicenter, multinational, prospective observational study, aiming to recruit up to 6,000 patients with relapsing-remitting MS from Europe, Canada and Australia.

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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.

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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.

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We describe the case of a twenty-year-old woman with subacute encephalopathy, who subsequently developed hearing loss and ophtalmopathy. The clinical triad and typical findings on magnetic resonance imaging and cerebrospinal fluid analysis led to the diagnosis of Susac syndrome. Brain positron emission tomography showed abnormalities which are comparable with other types of central nervous system vasculitis, and distinct from those found in multiple sclerosis.

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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.

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