Clinical Neuroscience

[Neurological complications of Fabry-disease]

VASTAGH Ildikó, CONSTANTIN Tamás, KÉRI Anna, RUDAS Gábor, FEKETE György, BERECZKI Dániel

JANUARY 30, 2011

Clinical Neuroscience - 2011;64(01-02)

[Background - Fabry-disease (FD) is a rare X-linked lysosomal storage disease. Deficiency of alpha-galactosidase A activity leads to the accumulation of neutral glycosphingolipids, primarily globotriaosylceramide (GL-3) in various tissues, particularly blood vessels, kidneys, myocardium and in ganglions of the peripheral and autonomic nervous system and causes diverse symptoms. The classical phenotype is seen in most males and rarely in females. In women, symptomes start later and the severity is milder. Both peripheral and central nervous system can be both affected. Objectives - Fabry-patiens and gene-carriers in the central region of Hungary are treated in the 2nd Pediatric Department, Semmelweis University. These patients are consulted by an interdisciplinary team. At present, four hemizygous male, four heterozygous female Fabry-patients and three asymptomatic heterozygous gene carriers are followed. Results - After reviewing the neurological complications of FD, we present clinical and neuroimaging data of our patients. Conclusion - We emphasize that neurologists should suspect the rare monogenic FD in the case of acroparaesthesia and heat-cold intolerance in childhood or adolescence; clinical signs of TIA/stroke or unexplained MRI alterations suggesting small vessel disease in young adults. Early diagnosis and introduction of enzyme replacement therapy (ERT) can halt or reverse progression.]

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Clinical Neuroscience

[Ulcerative carpal tunnel syndrome]

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[The carpal tunnel syndrome is the most frequent compression-induced neuropathy. A severe but rare clinical manifestation of this disorder associates with ulceration, acral osteo-lysis and mutilation of the terminal phalanges of the second and third fingers. Recognition of this disorder is difficult, because various dermatological and internal diseases might lead to acral ulcerative lesions, and these patients are seldom referred to neurological and/or electrodiagnostic examination. In this article, we present three cases of this rare clinical form of carpal tunnel syndrome and discuss the electrodiagnostic findings. The early diagnosis is important since decompression of the median nerve in due time might prevent mutilation and could significantly improve the patients’ quality of life.]

Clinical Neuroscience

[Vascular compression syndromes of the cranial nerves]

KUNCZ Ádám, VÖRÖS Erika, BARZÓ Pál

[The blood vessels which are running nearby the cranial nerves and the brainstem can be elongated; curves and loops of the vessels may develop mostly due to the degenerative alterations of ageing and these vessels can compress the surrounding neural elements. The authors report a review of vascular compression syndromes based on the literature and their own experience. The typical clinical symptoms of the syndromes subserving the proper diagnosis, the pathomechanism, the significance of imaging especially the magnetic resonance angiography, the experience with the surgical technique of microvascular decompression which is the only causal treatment of the syndromes are discussed. In cases of non-responsible medical treatment the microvascular decompression should be the eligible treatment in certain syndromes (trigeminal and glossopharyngeal neuralgia, hemifacial spasm) for it is a highly effective and low risk method.]

Clinical Neuroscience

[EEG investigations in cognitive impairments]

SZIRMAI Imre, KAMONDI Anita

[The EEG is an indicator of all physiological and neuropsychological activity. The α rhythm was considered as a key phenomenon in research of human mentation from the discovery of EEG. Two methods are known for the estimation of cognitive deficit by the use of quantitative EEG (QEEG). The first is based on the hypothesis, that the mean values of the normal EEG from healthy volunters can be used as reference, and deviation from the normal values of EEG parameters may suggest disease. This kind of “neurometry” was elaborated by R. E. John. The second method asseses event related (ER) transients evoked by somatosensory and mental stimuli. Quantity and localization of signals may refer to the functional state of the cortex. These reactions depend strongly on the test-paradigms. Recognition of the attention-intention cycle disclosed the psysiological mechanism of ERD (event related desynchronisation) and ERS (event related synchronisation). In contrast with the classical “stimulus-reaction” model, both perception and voluntary movement are iniciated by the brain itself, and not by the environment. Human behavior and conscious actions depend on the intention. QEEG analysis proved that the attention and intention localize in segregate areas of the brain. Both “static” and “dinamic” neurometric methods are able to differenciate the EEG records of demented patients from healthy controls, furthermore some dementias from each other. We conclude that with the help of sofisticated methods of QEEG analysis minimal functional deficit of the electrogenesis can be recognized, which could be helpful in the differential diagnosis Notwithstanding the EEG can not explain the evolution neither the normal or the diseased mental processes. The only “instrument” which is able to approach the human mind is the human cogitation itself with the aids of appropriate tests. The QEEG can be conclusive in the analysis of particular processes of mental activity, such as timing, state of activation, hierarchical organisation of cortical territories and mechanism of electrogenesis.]

Clinical Neuroscience

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Clinical Neuroscience

[Paroxysmal kinesigenic dyskinesia]

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[Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease and the diagnosis is based on case history and clinical features. Despite of simply diagnostic criteria, the recognition of the disease is sometimes delayed. The involuntary movements in PKD lead to anxiety, social isolation, trauma and worsens the quality of life. To establish the diagnosis many other paroxysmal syndromes have to be excluded. The disease responds to antiepileptic therapy well. The genetic background of the familiar cases is not known. Here we present a 19 year-old patient with PKD and review the current literature. Our patient’s events were triggered by sudden movements and last several seconds. His physical and neurological examinations were normal and responded well to carbamazepine therapy.]

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[CADASIL and other hereditary small vessel diseases of the brain - Increasingly diagnosed conditions underlying familial ischaemic stroke and dementia]

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Clinical Neuroscience

Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

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Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithy­mia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share com­mon pathology of neuroanatomical structures. We hypo­thesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship bet­ween WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.

Clinical Neuroscience

Evaluation of the effectiveness of transforaminal epidural steroid injection in far lateral lumbar disc herniations

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Clinical Neuroscience

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We aimed to investigate the association between fluoxetine use and the survival of hospitalised coronavirus disease (COVID-19) pneumonia patients. This retrospective case-control study used data extracted from the medical records of adult patients hospitalised with moderate or severe COVID-19 pneumonia at the Uzsoki Teaching Hospital of the Semmelweis University in Budapest, Hungary between 17 March and 22 April 2021. As a part of standard medical treatment, patients received anti-COVID-19 therapies as favipiravir, remdesivir, baricitinib or a combination of these drugs; and 110 of them received 20 mg fluoxetine capsules once daily as an adjuvant medication. Multivariable logistic regression was used to evaluate the association between fluoxetine use and mortality. For excluding a fluoxetine-selection bias potentially influencing our results, we compared baseline prognostic markers in the two groups treated versus not treated with fluoxetine. Out of the 269 participants, 205 (76.2%) survived and 64 (23.8%) died between days 2 and 28 after hospitalisation. Greater age (OR [95% CI] 1.08 [1.05–1.11], p<0.001), radiographic severity based on chest X-ray (OR [95% CI] 2.03 [1.27–3.25], p=0.003) and higher score of shortened National Early Warning Score (sNEWS) (OR [95% CI] 1.20 [1.01-1.43], p=0.04) were associated with higher mortality. Fluoxetine use was associated with an important (70%) decrease of mortality (OR [95% CI] 0.33 [0.16–0.68], p=0.002) compared to the non-fluoxetine group. Age, gender, LDH, CRP, and D-dimer levels, sNEWS, Chest X-ray score did not show statistical difference between the fluoxetine and non-fluoxetine groups supporting the reliability of our finding. Provisional to confirmation in randomised controlled studies, fluoxetine may be a potent treatment increasing the survival for COVID-19 pneumonia.