Abstract：
:Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease. More rarely, it can be a manifestation of congenital central hypoventilation syndrome (CCHS). We here describe a 25-year-old woman with severe central hypoventilation triggered by analgesics. Genetic analysis confirmed the diagnosis of adult-onset CCHS caused by a heterozygous de novo poly-alanine repeat expansion of the PHOX2B gene. She was treated with nocturnal non-invasive ventilation. We reviewed the literature and found 21 genetically confirmed adult-onset CCHS cases. Because of the risk of deleterious respiratory complications, adult-onset CCHS is an important differential diagnosis in patients with central hypoventilation.
journal_name
Acta Neurol Belgjournal_title
Acta neurologica Belgicaauthors
Meylemans A,Depuydt P,De Baere E,Hertegonne K,Derom E,Dermaut B,Hemelsoet Ddoi
10.1007/s13760-020-01363-wsubject
Has Abstractpub_date
2020-04-25 00:00:00eissn
0300-9009issn
2240-2993pii
10.1007/s13760-020-01363-wpub_type
杂志文章,评审abstract：:Small fiber neuropathy (SFN), due to loss of A-delta and unmyelinated C fibers, is a cause of neuropathic pain. Although the patients with vitamin B12 deficiency are included in SFN studies in the literature, there is no histopathological study investigating the small fiber loss solely in patients with vitamin B12 def...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-017-0847-y
更新日期：2018-09-01 00:00:00
abstract：:Neuropathology plays a crucial role in the phenotypic individualization of hereditary disorders affecting the central and peripheral nervous system even if molecular genetics represents the most essential step in describing the genotypes. The neuropathological description of phenotypes and genotypes can be used for re...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：2002-03-01 00:00:00
abstract：:We reviewed the clinical, neuropsychiatric, and EEG status of 53 turner syndrome (TS) females, aged 3-16 years, in Assiut university hospitals, Upper Egypt. The diagnosis and care of patients with TS in Egypt is still in the developing stage. Hence this study was undertaken to review the details of patients with TS wi...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：10.1007/s13760-013-0264-9
更新日期：2014-03-01 00:00:00
abstract：:Five to 10 mul of 196 cerebrospinal fluid samples were subjected to agar gel electrophoresis without previous concentration. No "degenerative" pattern was found to be correlated with any clinical diagnosis or group of diagnoses, Repeated freezing and thawing appears to have different effects on the different fractions...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1974-11-01 00:00:00
abstract：BACKGROUND:In carotid artery dissections, local and ischemic manifestations usually occur within days or weeks. In some cases, persistent extracranial aneurysms cause thromboembolic complications even years after the initial event. The management of these aneurysms is still controversial. CASE DESCRIPTION:We report th...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2003-09-01 00:00:00
abstract：:Despite the huge health and economic burden of migraine headache, few medications have been approved for its prophylactic treatment, most of which can potentially induce serious adverse effects. Coenzyme Q10 (CoQ10) is a supplement and has shown preliminary benefits in migraine prophylaxis. We aimed to assess this eff...
journal_title：Acta neurologica Belgica
pub_type： 临床试验,杂志文章
doi：10.1007/s13760-016-0697-z
更新日期：2017-03-01 00:00:00
abstract：:Similar alterations in the neuronal cytoskeleton (paired helical filaments) and modifications in the molecular forms of acetylcholinesterase (specific decrease in the G4 form) have been detected in the elderly rat as well as in patients suffering from SDAT. These observations challenge the specificity of some manifest...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:A language test protocol for aphasia in French-speaking patients was drawn up recently by workers in Toulouse and Montreal. The protocol has been applied to sixty hospitalized sciatica patients of the same age range and socio-cultural level as the average population of aphasics in our department. Only one of the norma...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：:In this study the role of DBS in advanced Parkinson disease (PD) is re-evaluated and new indications in the field of movement disorders are explored. The authors performed unilateral pallidal stimulation in 26 patients with advanced PD. At long-term follow-up review, the motor effect is unsatisfying. The authors concl...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2004-03-01 00:00:00
abstract：:The authors report a case of ataxic hemiparesis (dysarthria-clumsy hand syndrome plus crural hemiparesis with homolateral ataxia), secondary to a single cerebellar lacuna (CT scan), in a left rostral para-vermian position in the vicinity of the peduncle and secondary to arterial hypertension. They discuss the nosologi...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1989-03-01 00:00:00
abstract：:Atomoxetine, a selective noradrenaline reuptake inhibitor, has been reported to enhance brain plasticity, but has not yet been used in stroke patients. We reported the feasibility and clinical benefits on motor functional recovery of the combination of repetitive transcranial magnetic stimulation (rTMS) and intensive ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-015-0503-3
更新日期：2016-03-01 00:00:00
abstract：:The primary source of malignant intracerebral nerve sheath tumors is still unclear We report the imaging and MR spectroscopic findings in a 39-year-old man with a very rare brain stem tumor MR examination revealed the presence of intraaxial brain stem tumor with a partial exophytic growth. On pathological examination,...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2008-06-01 00:00:00
abstract：:It has been shown that low-frequency stimulation (LFS) can induce anticonvulsant effects. In this study, the effect of different LFS frequencies on kindling induced behavioral and ultrastructural changes was investigated. For induction of kindled seizures in rats, stimulating and recording electrodes were implanted in...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-013-0243-1
更新日期：2014-03-01 00:00:00
abstract：: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 ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2004-06-01 00:00:00
abstract：:Recently, great advances have been made in the surgical treatment of intramedullary spinal cord tumors (IMSCTs). Many articles have been published; but looking at the literature of the last 5 years, there are only descriptive reviews and no works in which a literature statistical analysis was performed. Here, we analy...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：10.1007/s13760-016-0684-4
更新日期：2017-03-01 00:00:00
abstract：: ...
journal_title：Acta neurologica Belgica
pub_type： 新闻
doi：10.1007/s13760-019-01097-4
更新日期：2019-03-01 00:00:00
abstract：:For the most part, the central nervous system is unable to regenerate. The majority of injuries of vascular, inflammatory, degenerative and traumatic aetiology lead to an irreversible loss of central nervous system function. The paper presents the role of Nogo-A, MAG and OMgp proteins in the inhibition of central nerv...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：10.1007/s13760-015-0425-0
更新日期：2015-12-01 00:00:00
abstract：:There is a need for new methods to study CSF proteins. Kerenyi et al., 1973 and Verheecke, 1975 have already used this method and discussed its advantages. The electrophoresis is carried out according to the method of Wieme with as supporting medium agar. The volume applied varies between 5 to 15 microliters according...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1979-07-01 00:00:00
abstract：:Alpha 1-antichymotrypsin (ACT), an acute-phase protein, has been reported to be increased in the brain and blood of Alzheimer's disease (AD) patients. However, few previous studies have focused on amnestic mild cognitive impairment (aMCI) patients. The aim of our study was to investigate the changing trend in ACT conc...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-019-01206-3
更新日期：2019-09-07 00:00:00
abstract：:A case report of a 46-year-old Belgian man with a subacute myelo-optic neuropathy is presented. Arguments in favour of a neurotoxic etiology are stressed. ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1976-01-01 00:00:00
abstract：:Cluster headache (CH) is among the most painful headache disorders. There is still no unifying pathophysiological hypothesis to explain the trigeminal distribution, the circadian periodicity and the autonomic symptoms of the syndrome. We report the case of a patient with worsening of CH following administration of pra...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2010-09-01 00:00:00
abstract：OBJECTIVE:To study the impact of cognitive impairment and severity of dementia on the quality of life (QoL) of patients and their caregivers. DESIGN:Descriptive cross-sectional study within the NAtional Dementia Economic Study. SETTING:231 general practices and 15 specialist clinics in Belgium. SUBJECTS:605 patients...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2003-03-01 00:00:00
abstract：:n-Hexane gives cause to one of the most common toxic polyneuropathies seen in poorly ventilated factories. It is a sensory-motor polyneuropathy ending up with axonal degeneration. Nerve biopsy reveals paranodal axonal swelling and secondary myelin retraction in early stages. Myelin retraction imitates demyelination ca...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-019-01137-z
更新日期：2019-04-13 00:00:00
abstract：:Although migraine is a neurological disorder known for its long, physiopathology remains unclear. The aim of this study was to investigate the levels of hematological parameters and neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), lymphocyte/monocyte ratio (LMR) and neutrophil/monocyte ratio (NMR) u...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01362-x
更新日期：2020-04-28 00:00:00
abstract：:Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) is involved in the pathogenesis of central nervous system (CNS) demyelination disorders. We aimed to explore the spectrum of MOG-Ab-associated diseases in eastern India. A single-center, prospective observational study was done over a period of 2 years in a tertiar...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01356-9
更新日期：2020-04-20 00:00:00
abstract：:The purpose of the study was to evaluate the relationship between sympathetic skin responses (SSR), electrodiagnostic reflex activities (F wave, H reflex), and functional capacity in post-stroke patients. The study comprised 40 hemiplegia patients (mean age 57.8 ± 10.9 years) and 40 healthy volunteers (mean age 557 ± ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-014-0397-5
更新日期：2015-09-01 00:00:00
abstract：:Diets that have effects on health problems can vary in their composition. Whilst following a regular diet (RD) a person typically consumes about 30% of calories from fat. Ketogenic diet (KD) is a form of diet whereby a person consumes as much as 90% of calories from fat. KD has been trialed as a treatment for neurolog...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01486-0
更新日期：2020-09-06 00:00:00
abstract：:Increasing costs of healthcare call for rational approaches based on cost-effectiveness of the surgical procedures. When treating trigeminal neuralgia, therapeutic options vary widely as does their cost. We have compared microvascular decompression (MVD), radiofrequency rhizotomy (RFR), percutaneous balloon compressio...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-012-0095-0
更新日期：2012-09-01 00:00:00
abstract：:To analyze the clinical characteristics and PRRT2 gene mutation of self-limited familial infantile epilepsy and evaluate the treatment responses of different antiepileptic drugs in self-limited familial infantile epilepsy. We reviewed the clinical feature and genetic mutation results and treatment responses of two sib...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01348-9
更新日期：2020-08-01 00:00:00
abstract：:We report an unusual case of probable progressive multifocal leukoencephalopathy (PML), who initially presented with a right-sided movement disorder, including upper limb dystonia, tremor, and dyspraxia, reminiscent of corticobasal degeneration. In the further course, the patient developed disorientation, confusion, a...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2000-12-01 00:00:00
