Clinical Neuroscience

[György Pfliegler, Ferenc Garzuly: Rare diseases - diagnostic challenges]

HORVÁTH Boldizsár

JULY 30, 2013

Clinical Neuroscience - 2013;66(07-08)

COMMENTS

0 comments

Further articles in this publication

Clinical Neuroscience

[Sacral insufficiency fractures]

FERENC Mária, PUHL Mária, VARGA Péter Pál

[Background - The spontaneous osteoporotic fracture of the sacrum, known as a sacral insufficiency fracture (SIF) was first described as an unrecognized syndrome of the elderly by Laurie, in 1982. Numerous case histories and a few series of cases have been discussed in medical journals; however, none have been reported in Hungary. Goal - To delineate the leading diagnostic steps in the recognition of SIF and review the therapeutic guidelines. Case histories, methods - Between January 2009 and the first six months of 2010 11 cases of SIF were diagnosed at the National Center for Spinal Disorders. We examined the clinical aspects of the illness, the radiological modalities, the fracture markings, the pace of recovery and duration. Results - The 11 patients were found to have various SIF predestining etiological factors and the following classic fractures - H-type, unilateral, horizontal, unilateral-horizontal and vertical as well as a bilateral pattern. In cases often not showing obvious clinical symptoms and in cases resulting in conventional radiological examinations of low sensitivity and specificity, we used mapping techniques in setting up the exact diagnosis. Conclusion - If we consider SIF from patient history and known risk factors, diagnostic procedure (primer original) may be shortened and a number of unnecessary tests (biopsy) may be avoided.]

Clinical Neuroscience

[Identification of new biomarkers (translational studies)]

KOMOLY Sámuel, KIEFER Zoltán

Clinical Neuroscience

[Survey of adults with epilepsy in Hungary: health related quality of life and costs]

PÉNTEK Márta, BERECZKI Dániel, GULÁCSI László, MIKUDINA Boglárka, ARÁNYI Zsuzsanna, JUHOS Vera, BAJI Petra, BRODSZKY Valentin

[Background and purpose - Disease burden of epilepsy in Hungary is underexplored. The aim of our study was to assess the quality of life and costs of adults with epilepsy. Methods - Cross-sectional questionnaire survey was performed in two hospital based outpatient neurology centres involving consecutive patients with epilepsy. Demography, clinical characteristics, health status (EQ-5D) and health care utilisation in the past 12 months were surveyed. Cost calculation was performed from the societal perspective. Results - Altogether 100 patients (women 58%) were involved, their mean age was 37.6 (SD=12.5) years. Disease duration was 15.0 (SD=12.1) years on average and 22 (22%) patients were disability pensioners. The EQ- 5D score was mean 0.83 (SD=0.24) which is significantly lower than the age-matched population norm (p=0.017). Pain/discomfort and anxiety/depression are the most problematic health dimensions. The annual cost per patient was mean 2421 (SD=3249) Euros (679 397 SD=911 783 HUF; conversion: 1 Euro=280.6 HUF), distribution between direct medical, direct non-medical and indirect costs was 33%, 18% or 49%. Patients with seizure in the past 12 months have higher cost on avergare than the asymptomatic subsample (3119 vs. 988 Euros/patient/year; 935 481 vs. 277 209 HUF/patient/year). Conclusion - Adults with epilepsy have significantly worse health status by the EQ-5D than the gender and age matched Hungarian general population. Disease related costs are significant especially in cases with seizure, productivity loss related costs are dominant. Our study provides basic data for clinical and sustainable health care financing decisions.]

Clinical Neuroscience

[CONGRESS CALENDAR]

Clinical Neuroscience

[Transcranial Doppler assessment of cerebral vasomotor reactivity in evaluating effects of vinpocetine in cerebral small vessel disease: a pilot study]

JOVANOVIC B. Zagorka, PAVLOVIC M. Aleksandra, PEKMEZOVIC Tatjana, MIJAJLOVIC Milija, NADEŽDA Šternić Čovičković

[Background - There are still dilemmas about the vasodilating effect of vinpocetine, a synthetic ethyl alkaloid vincamine. The method of measuring cerebral vasomotor reactivity (VMR) by transcranial Doppler (TCD) technique before and after administration of the medication was used to estimate the degree of arterioles vasodilatation. The aim of this study was to test of the vasodilating effect of vinpocetine in patients with cerebral small vessel disease (SVD) by measuring cerebral VMR. Material and methods - Thirty patients with SVD were on 3-month-long oral treatment with 15 mg vinpocetine daily. Cerebral VMR was determined by breath holding test. The breath holding index (BHI) was calculated in standard manner and values >0.69 were considered normal. At the baseline, before treatment (I), BHI, modified Rankin scale (mRS) score, Mini Mental State Examination (MMSE) score were determined. One month later (II) BHI was assessed again, while after 3 months of treatment (III) we analyzed BHI, mRS score and MMSE score. Results - The average age of patients was 61.4±11.5 years (range 40 to 77 years), 18 (60%) female and 12 (40%) males. Values of BHIs were increased during treatment at the right MCA (I) 1.18±0.53, (II) 1.26±0.54, (III) 1.37±0.41, with statistical significance between I and III measurement (p<0.05). An increase was noted on the left MCA (I) 1.25±0.53, (II) 1.31±0.55 and (III) 1.32±0.42, but it did not reach statistical significance (p>0.05). Mean MMSE score significantly increased from baseline 27.4±2.3 to 28.5±2.0 after three months of treatment (p<0.001). Functional status showed a statistically significant improvement with mRS score increasing from 2.1±1.0 to 1.1±0.6 (p<0.001). Conclusion - This pilot study showed that 3-month-long oral treatment with vinpocetine 15 mg daily had tendency to increase BHI, indicating improvement of cerebral VMR. It is possible that higher doses of vinpocetine are needed to achieve substantial increase of VMR.]

All articles in the issue

Related contents

Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

[What happens to vertiginous population after emission from the Emergency Department?]

MAIHOUB Stefani, MOLNÁR András, CSIKÓS András, KANIZSAI Péter, TAMÁS László, SZIRMAI Ágnes

[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]

Clinical Neuroscience

Neuroscience highlights: Main cell types underlying memory and spatial navigation

KRABOTH Zoltán, KÁLMÁN Bernadette

Interest in the hippocampal formation and its role in navigation and memory arose in the second part of the 20th century, at least in part due to the curious case of Henry G. Molaison, who underwent brain surgery for intractable epilepsy. The temporal association observed between the removal of his entorhinal cortex along with a significant part of hippocampus and the developing severe memory deficit inspired scientists to focus on these regions. The subsequent discovery of the so-called place cells in the hippocampus launched the description of many other functional cell types and neuronal networks throughout the Papez-circuit that has a key role in memory processes and spatial information coding (speed, head direction, border, grid, object-vector etc). Each of these cell types has its own unique characteristics, and together they form the so-called “Brain GPS”. The aim of this short survey is to highlight for practicing neurologists the types of cells and neuronal networks that represent the anatomical substrates and physiological correlates of pathological entities affecting the limbic system, especially in the temporal lobe. For that purpose, we survey early discoveries along with the most relevant neuroscience observations from the recent literature. By this brief survey, we highlight main cell types in the hippocampal formation, and describe their roles in spatial navigation and memory processes. In recent decades, an array of new and functionally unique neuron types has been recognized in the hippocampal formation, but likely more remain to be discovered. For a better understanding of the heterogeneous presentations of neurological disorders affecting this anatomical region, insights into the constantly evolving neuroscience behind may be helpful. The public health consequences of diseases that affect memory and spatial navigation are high, and grow as the population ages, prompting scientist to focus on further exploring this brain region.

Clinical Neuroscience

Simultaneous subdural, subarachnoideal and intracerebral haemorrhage after rupture of a peripheral middle cerebral artery aneurysm

BÉRES-MOLNÁR Anna Katalin, FOLYOVICH András, SZLOBODA Péter, SZENDREY-KISS Zsolt, BERECZKI Dániel, BAKOS Mária, VÁRALLYAY György, SZABÓ Huba, NYÁRI István

The cause of intracerebral, subarachnoid and subdural haemorrhage is different, and the simultaneous appearance in the same case is extremely rare. We describe the case of a patient with a ruptured aneurysm on the distal segment of the middle cerebral artery, with a concomitant subdural and intracerebral haemorrhage, and a subsequent secondary brainstem (Duret) haemorrhage. The 59-year-old woman had hypertension and diabetes in her medical history. She experienced anomic aphasia and left-sided headache starting one day before admission. She had no trauma. A few minutes after admission she suddenly became comatose, her breathing became superficial. Non-contrast CT revealed left sided fronto-parietal subdural and subarachnoid and intracerebral haemorrhage, and bleeding was also observed in the right pontine region. The patient had leucocytosis and hyperglycemia but normal hemostasis. After the subdural haemorrhage had been evacuated, the patient was transferred to intensive care unit. Sepsis developed. Echocardiography did not detect endocarditis. Neurological status, vigilance gradually improved. The rehabilitation process was interrupted by epileptic status. Control CT and CT angiography proved an aneurysm in the peripheral part of the left middle cerebral artery, which was later clipped. Histolo­gical examination excluded mycotic etiology of the aneu­rysm and “normal aneurysm wall” was described. The brain stem haemorrhage – Duret bleeding – was presumably caused by a sudden increase in intracranial pressure due to the supratentorial space occupying process and consequential trans-tentorial herniation. This case is a rarity, as the patient not only survived, but lives an active life with some residual symptoms.

Clinical Neuroscience

Life threatening rare lymphomas presenting as longitudinally extensive transverse myelitis: a diagnostic challenge

TOLVAJ Balázs, HAHN Katalin, NAGY Zsuzsanna, VADVÁRI Árpád, CSOMOR Judit, GELPI Ellen, ILLÉS Zsolt, GARZULY Ferenc

Background and aims – Description of two cases of rare intravascular large B-cell lymphoma and secondary T-cell lymphoma diagnosed postmortem, that manifested clinically as longitudinally extensive transverse myelitis (LETM). We discuss causes of diagnostic difficulties, deceptive radiological and histological investigations, and outline diagnostic procedures based on our and previously reported cases. Case reports – Our first case, a 48-year-old female was admitted to the neurological department due to paraparesis. MRI suggested LETM, but the treatments were ineffective. She died after four weeks because of pneumonia and untreatable polyserositis. Pathological examination revealed intravascular large B-cell lymphoma (IVL). Our second case, a 61-year-old man presented with headache and paraparesis. MRI showed small bitemporal lesions and lesions suggesting LETM. Diagnostic investigations were unsuccessful, including tests for possible lymphoma (CSF flow cytometry and muscle biopsy for suspected IVL). Chest CT showed focal inflammation in a small area of the lung, and adrenal adenoma. Brain biopsy sample from the affected temporal area suggested T-cell mediated lymphocytic (paraneoplastic or viral) meningoencephalitis and excluded diffuse large B-cell lymphoma. The symptoms worsened, and the patient died in the sixth week of disease. The pathological examination of the presumed adenoma in the adrenal gland, the pancreatic tail and the lung lesions revealed peripheral T-cell lymphoma, as did the brain and spinal cord lesions. Even at histological examination, the T-cell lymphoma had the misleading appearance of inflammatory condition as did the MRI. Conclusion – Lymphoma can manifest as LETM. In cases of etiologically unclear atypical LETM in patients older than 40 years, a random skin biopsy (with subcutaneous adipose tissue) from the thigh and from the abdomen is strongly recommended as soon as possible. This may detect IVL and provide the possibility of prompt chemotherapy. In case of suspicion of lymphoma, parallel examination of the CSF by flow cytometry is also recommended. If skin biopsy is negative but lymphoma suspicion remains high, biopsy from other sites (bone marrow, lymph nodes or adrenal gland lesion) or from a simultaneously existing cerebral lesion is suggested, to exclude or prove diffuse large B-cell lymphoma, IVL, or a rare T-cell lymphoma.