Papers by P. Van Den Bergh
Orphanet Journal of Rare Diseases, 2020
Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is us... more Background Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). Methods We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients (N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010–2017), including the activity limitations ActivLim score, 6 min walking distance (6MWD), 10 m walk test (10MWT), MRC sum score, and forced vital capacity (FVC) sitting/supine. Results In Belgium, we calculated an LOPD prevalence of 3.9 per million. Mean age at onset of 52 LOPD patients was 28.9 years (SD: 15.8 y), ranging from 7 months to 68 years. Seventy-five percent (N = 39) of the patients initially presented with limb-girdle weakness, whereas...
Toxicologie Analytique et Clinique, 2014
ABSTRACT Parmi les causes toxiques de rhabdomyolyses sévères, les statines, les fibrates, l’éthan... more ABSTRACT Parmi les causes toxiques de rhabdomyolyses sévères, les statines, les fibrates, l’éthanol, l’héroïne et la cocaïne sont les agents les plus fréquemment incriminés. Les cas de rhabdomyolyse extrême avec les statines demeurent rares et sont souvent liés soit à des anomalies génétiques, soit à des interactions médicamenteuses. Nous rapportons un cas survenu lors d’une association simvastatine-amlodipine-ciprofloxacine.
Neuromuscular Disorders
Objectives The aim of the Belgian Neuromuscular Disease Registry is to collect data to improve kn... more Objectives The aim of the Belgian Neuromuscular Disease Registry is to collect data to improve knowledge on neuromuscular diseases and enhance quality of health services for these patients. Background Today, there are only 5 global national neuromuscular disease registries in the world encompassing all diseases in contrast with disease specific registries. This Registry was commissioned in 2008 after 9 consecutive years of data collection from individual centers throughout the country. These studies were unable to address key issues such as double entries and the ability to track a single patient’s clinical course over time. Methods The six accredited neuromuscular reference centers in Belgium were tasked with entering all patients diagnosed with one of the predefined 62 neuromuscular disease groups and living in Belgium. Basic core data was harvested through a newly designed web application. A fixed BNMDR-identification number for each patient was generated, preserving patient anonymity. Each entry was updated yearly. Results In 2012, 3821 patients with a neuromuscular disorder were entered in the Registry, an overall increase of 21% since the launch of the Registry. The most prevalent disease group in the Registry was Hereditary Motor and Sensory Neuropathy, as similarly stated by other studies, albeit the prevalence in Belgium is lower; 7.4 per 100,000 in the north of Belgium, versus 17.0 - 41.0 per 100,000 in other areas of Europe. Conclusion Global national registries are advantageous as they are time and resource saving. Belgium has low neuromuscular disease prevalence perhaps due to under-representation of patients especially from the south of the country. This can be a result of the data being entered only by the neurologists in a few reference centers unevenly spread throughout the country. The trends show a slow constant progress of patient data entry. Disclosure: Dr. Roy has nothing to disclose. Dr. Van Damme has nothing to disclose. Dr. Van den Bergh has nothing to disclose. Dr. Van Casteren has nothing to disclose.
Annales françaises de médecine d'urgence, 2011
Encephalopathie a complexes triphasiques et syndrome de Guillain-Barre retarde lors d'une int... more Encephalopathie a complexes triphasiques et syndrome de Guillain-Barre retarde lors d'une intoxication aigue par un herbicide « chlorophenoxy »
Acta gastro-enterologica Belgica
To assess the physiological variables among Upper Esophageal Sphincter Nadir (UESN), Hypopharynge... more To assess the physiological variables among Upper Esophageal Sphincter Nadir (UESN), Hypopharyngeal Peak Pressure (HPP) and Pharyngo-Esophageal Pressure Gradient (PEPG) for Videofluoromanometry (VFM). Exploratory non-randomised prospective study comparing UESN, HPP and PEPG of three cohorts of individuals presumably presenting very distinctive "manometric signatures" based on McConnel's Piston Model of swallowing: 11 non-dysphagic volunteers called the Control Group (CG), 10 dysphagic patients presenting a Myotonic Dystrophy (MD), at various stages of evolution, and 10 patients presenting a CricoPharyngeal Barr (CPB), with no post-swallow pharyngeal residue at a previous Modified Barium Swallow (MBS). VFM tests are performed using solid-state three unidirectional transducers produced by Gaeltec Inc. The simultaneous display storage of the standard fluoroscopic swallow of 10 ml liquid barium with UESN and HPP measurements, continuously recorded on a 3-channel polygraph,...
Revue neurologique, 1998
Optic neuropathy and putaminal necrosis are the most common sequellae of methanol poisoning. We r... more Optic neuropathy and putaminal necrosis are the most common sequellae of methanol poisoning. We report a case in a patient with a chronic motor neuro(no)pathy in addition to these neurological complications. Peripheral nerve and spinal cord disorders, related to methanol poisoning, are uncommon and probably underestimated.
Acta neurologica Belgica, 1996
A 68 year-old man developed progressive hemidystonia and chorea 8 months after a contralateral th... more A 68 year-old man developed progressive hemidystonia and chorea 8 months after a contralateral thalamic stroke. The neurological examination also showed a right pyramidal syndrome without hemiparesis, a right horizontal sectoranopia, and a right hemihypesthesia for all sensory modalities. The MRI revealed infarctions in the left medial temporo-occipital lobes and left posterolateral thalamus, corresponding to the vascular territories of both the thalamo-geniculate and posterolateral choroidal arterial pedicles. The thalamic lesion involved the pulvinar, the lateral geniculate body, and the ventro-postero-lateral, dorso-lateral, posterolateral, and dorso-medial nuclei, but apparently did not extent to the ventrolateral thalamic nucleus, and the subthalamic and midbrain regions. Thalamic and striatopallidal dystonia have not a common pathophysiological mechanism. The involvement of the pulvinar nucleus and of the strategic crossing of proprioceptive, cerebellar, pyramidal, and subthal...
Acta neurologica Belgica, 1995
OA Case Reports, 2013
Introduction This article reports a case of the difficulty to differentiate between critical illn... more Introduction This article reports a case of the difficulty to differentiate between critical illness polyneuropathy and axonal Guillain-Barré syndrome when triggered by subarachnoid haemorrhage. Case report An 81-year-old man was admitted comatose (Glasgow coma scale score 4/15) after a subarachnoid haemorrhage. His neurological condition gradually improved with as best motor response (M4) withdrawal from pain at the four limbs. The patient developed early complications such as septicaemia and acute renal injury. After 3 weeks, a marked decrease of motor response (M1) was noted in the lower, and, to lesser extent, upper limbs. Deep tendon reflexes were abolished. The cerebrospinal fluid examination showed elevated protein level. After electrophysiological examination, the diagnosis of acute motor axonal neuropathy, a variant of Guillain-Barré syndrome, was discussed versus critical illness polyneuropathy. Specific therapy for Guillain-Barré syndrome could not be administered. No significant motor recovery was observed after 7 months. Conclusion The distinction between critical illness polyneuropathy and Guillain-Barré syndrome remains difficult in critically ill patients. It is not known if subarachnoid haemorrhage could be considered as a possible triggering factor for Guillain-Barré syndrome.
Neurophysiologie Clinique/Clinical Neurophysiology, 2013
Neuromuscular Disorders, 2007
Neuromuscular Disorders, 2007
GLB1 mutations. This type of GM1 gangliosidosis and some mutations of rapsyn and of the delta-sub... more GLB1 mutations. This type of GM1 gangliosidosis and some mutations of rapsyn and of the delta-subunit of AChR share symptoms observed in the fetal form of myasthenia gravis. Even maternal IgG antibodies recognizing GM1 gangliosides lead to reduced prenatal movement and a distally marked arthrogyposis multiplex congenita. In conclusion, arthrogryposis multiplex congenita in addition with micrognathia, low-set ears, and congenital respiratory distress is observed in postsynaptic failures of neuromuscular transmission.
Neuromuscular Disorders, 1997
Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant or sporadic disorder characteri... more Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant or sporadic disorder characterized by periodic, reversible attacks of muscle weakness. Mutations in the skeletal muscle dihydropyridine receptor alpha 1-subunit that functions as a calcium channel (CACNL1A3) cause hypoKPP. We studied a group of 45 hypoKPP probands and demonstrated mutations in 30 of them. When compared with patients in whom CACNL1A3 mutations were not identified, those with mutations had an earlier age of onset and more often had a family history of hypoKPP. To date, three mutations have been identified. The R1239G mutation has only been found in one family. Of the 30 probands with recognized mutations, R528H accounted for 43% and R1239H was seen in 53%. Age of onset and potassium levels during attacks were lower in patients with the R1239H mutation than those with R528H. Cardiac dysrhythmias co-segregated with hypoKPP in one small kindred with the R528H mutation. No mutations were identified in exons of the gene encoding the S4 segments of domains one and three or the cytoplasmic loop between domains two and three. In addition to the 45 hypoKPP probands, an additional 11 probands with clinical variants of hypoKPP (three thyrotoxic hypoKPP and eight Andersen syndrome patients) were examined for CACNL1A3 mutations and none were found.
Neuromuscular Disorders, 2009
Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of ... more Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker-Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially isolated in one case and muscular dystrophy. Immunohistochemical studies and haplotype analysis led us to search for mutations in FKTN. Two patients (two sisters) presented with congenital muscular dystrophy, mental retardation, and posterior fossa malformation including cysts, and brain atrophy at Brain MRI. The other two patients had normal intelligence and brain MRI. Sequencing of the FKTN gene identified three previously described mutations and two novel missense mutations. Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP.
Neuromuscular Disorders, 1997
Acute myopathy occurs in critically ill patients, receiving neuromuscular blocking agents or cort... more Acute myopathy occurs in critically ill patients, receiving neuromuscular blocking agents or corticosteroids during intensive care hospitalisation. We report three patients with acute quadriplegic myopathy, two of whom were not exposed to corticosteroids or neuromuscular blocking agents. The first of these latter two patients had a history of generalised anoxia with coma related to surgery, complicated by multiple organ failure and sepsis. The second patient, suffering from acute leukaemia, developed sepsis and acute respiratory distress syndrome with the need for mechanical ventilation in the intensive care unit. Electrophysiological studies and muscle biopsy findings were consistent with the diagnosis of critical illness myopathy with loss of myosin filaments. Selective loss of myosin was confirmed by biochemical analysis of muscle. These findings demonstrate that acute myopathy with loss of myosin filaments may occur in patients with severe systemic illness without exposure to corticosteroids or neuromuscular blocking agents.
Neurology, 1988
The raphe-spinal pathway, which contains co-localized serotonin (5-HT), thyrotropin-releasing hor... more The raphe-spinal pathway, which contains co-localized serotonin (5-HT), thyrotropin-releasing hormone (TRH), and several TRH-prohormone-derived non-TRH peptides, projects to the ventral horn of the spinal cord. Pharmacologic ablation of this pathway with the 5-HT neurotoxin, 5,7-dihydroxytryptamine, in neonatal rats resulted in deficient recovery of plantar foot muscles, functionally denervated with botulinum toxin type A. Failure of reinnervation was suggested by slower and incomplete recovery of the plantar foot compound muscle action potential amplitude and by a reduced mean diameter of plantar foot muscle fibers in ablated rats. These findings indicate that deprivation of alpha motor neurons from descending raphe-spinal input interferes with their ability to respond to muscle-derived signals for reinnervation.
Muscle & Nerve, 1989
We describe a patient with a chronic, symmetric, monophasic, acquired, pure motor, demyelinating ... more We describe a patient with a chronic, symmetric, monophasic, acquired, pure motor, demyelinating polyneuropathy. Electrodiagnostic studies showed the presence of multifocal conduction blocks in motor nerves at sites not prone to compression. A sural nerve biopsy was normal. The patient responded to immunosuppressive therapy and plasma exchange. We postulate that this disorder is an unusual variant of chronic inflammatory polyradiculoneuropathy.
Journal of Neurology, 1995
Uploads
Papers by P. Van Den Bergh