Clinical Neuroscience

[Multiple ischemic stroke in Osler-Rendu-Weber disease]

SALAMON András1, FARAGÓ Péter1, NÉMETH Viola Luca1, SZÉPFALUSI Noémi1, HORVÁTH Emese2, VASS Andrea3, BERECZKY Zsuzsanna4, TAJTI János1, VÉCSEI László1,5, KLIVÉNYI Péter1, ZÁDORI Dénes1

JANUARY 30, 2019

Clinical Neuroscience - 2019;72(01-02)

DOI: https://doi.org/10.18071/isz.72.0065

[Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curaçao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.]

AFFILIATIONS

  1. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, Neurológiai Klinika, Szeged
  2. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, Orvosi Genetikai Intézet, Szeged
  3. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, II. Sz. Belgyógyászati Klinika és Kardiológiai Központ, Szeged
  4. Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Laboratóriumi Kutató Tanszék, Debrecen
  5. MTA-SZTE Idegtudományi Kutatócsoport, Szeged

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Clinical Neuroscience

Evaluation of neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio in essential tremor

TAK Zeynal Abidin Ali, SENGUL Yildizhan

Introduction - Although essential tremor (ET) is the most common cause of tremor, the pathology and underlying mechanisms have not fully understood yet. In addition to kinetic tremor, patients may present several types of tremor, gait ataxia, hearing deficits and eye movement abnormalities. Non-motor symptoms and signs have also added to definition of ET. There is significant evidence indicating the neurodegenerative nature of the disease. New studies indicate that inflammation may have a place in the etiology. The neutrophil-to lymphocyte ratio (NLR) and the platelet-to lymphocyte ratio (PLR) have recently begun to be used as a marker of systemic inflammation. Our study aims at finding a clue for systemic inflammation in ET. Methods - 67 patients with ET and 40 healthy controls were recruited for the study. The total white blood cells (WBC), absolute neutrophil count, lymphocyte count and platelet count were retrieved. The NLR was calculated by dividing the neutrophil count by the lymphocyte count and the PLR was calculated by dividing the platelet count by the lymphocyte count. Results - Patient and control groups were similar in terms of age and gender. The mean age of patient group was 25.29 ± 8.24 years and that of control group was 26.77 ± 6.73 years. The NLRs were 1.85 ± 0.58 in the patient group and 1.96 ± 0.53 in the control group. For the patient group and the control group the PLRs were 103.52 ±32.80 and 91.26 ± 31.57 respectively. There were no statistically significant differences between the participants for both NLR and PLR. Conclusion - The pathophysiological mechanism for essential tremor (ET) remains unclear. However, there is an increasing amount of research being conducted on the subject. Discussions about ET’s definition as a neurodegenerative disease are ongoing. Although previous studies showed that neuroinflammation could be a part of etiology of disease, this study has failed to demonstrate systemic inflammation in ET.

Clinical Neuroscience

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Objective - There is a lack of research on the association between body image perception (BIP) and multiple sclerosis (MS). The aim of this study was to evaluate BIP in MS patients and its correlation with depression, anxiety, duration of the disease, and sociodemographic characteristics of the patients. Methods - Fifty patients with MS who applied to our outpatient clinic were examined. Forty-five healthy control were recruited for the study. All patients were diagnosed with MS according to 2010 revisions of McDonald criteria. Expanded Disability Status Scale (EDSS) was performed by the same neurologist for all patients. The participants were asked to complete a sociodemographic form, Body Cathexis Scale (BCS), Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI). Results - The mean BCS score was 86.54 ± 32.24 in MS patients and 155.00 ± 20.90 in the healthy subjects (p<0.001). While MS patients had significantly higher anxiety levels, depression scores were similar in both groups. The mean BAI score was 18.50 ± 14.03 for MS patients and 10.06 ± 7.96 in the control group (p=0.001). The BDI score of the patients was 13.77 ± 11.61 and 11.91 ± 8.65 for the controls (p=0.34). Early age of the disease onset, increased number of attacks, increased depressive symptoms, and higher anxiety levels were significantly correlated with higher BCS scores. Age and being single/ divorced/ widowed were also correlated with BCS scores. Conclusions - It is important to preserve the mental well-being of patients. Even in apparently healthy patients, the body perception may be severely impaired.

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Is isolated hand weakness associated with subtypes of stroke?

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Background and aim - Isolated hand weakness is an uncommon condition in stroke patients. It is frequently confused with peripheral nerve system (PNS) pathologies; misdiagnosis may delay identification of the etiology and treatment of stroke. Herein, we aimed to underline the necessity of keeping the diagnosis of stroke in mind in case of patients with isolated hand weakness and to assess the etiology of stroke. Materials and methods - A total of eight patients (four females and four males), who are presented with isolated hand weakness and had acute cortical infarction documented via cranial MRI, were enrolled in the study. Demographic characteristics, physical and radiological findings of the patients, as well as the lateralization and etiology of infarction were evaluated. Results - The mean age of the patients was 61.8 ± 12 years. Isolated hand weakness was in the dominant hand in four patients. According to the etiology and clinical signs, the stroke was cardioembolic in three patients and they had predominant radial-side (thumb and index) finger weakness. Large vessel atherosclerosis was present in three patients; two patients with predominant ulnar-side (little and ring) finger weakness and one patient with uniform finger weakness; there were two patients with stroke of undetermined etiology and they had uniform finger weakness. Conclusion - Keeping stroke in mind together with PNS pathologies in case of isolated hand weakness is critical for early diagnosis and treatment of the patients. In addition, cardioembolic focus should be considered in case of predominant radial-side finger weakness, whereas particular attention should be paid to carotid artery diseases in case of predominant ulnar-side finger weakness.

Clinical Neuroscience

[Selection of the optimal device-aided therapy in Parkinson’s disease]

KOVÁCS Norbert, ASCHERMANN Zsuzsanna, JUHÁSZ Annamária, HARMAT Márk, PINTÉR Dávid, JANSZKY József

[For the treatment of advanced Parkinson’s disease the deep brain stimulation (DBS) and the levodopa/carbidopa intestinal gel (LCIG) therapies are available in Hungary. Although they may have similar impact on the health-related quality of life and disabilities associated with the disease, they have different indications, and inclusion- and exclusion criteria. Consequently, the patient population treated with DBS and LCIG may be different. In the present review, the authors try to help the process of selection of the optimal device-aided therapy for the patients with advanced Parkinson’s disease. ]

Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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