Clinical Neuroscience

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

HORVÁTH Boldizsár

JULY 30, 2013

Clinical Neuroscience - 2013;66(07-08)

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Clinical Neuroscience

[Orthorexia nervosa and it’s background factors]

VARGA Márta, DUKAY-SZABÓ Szilvia, TÚRY Ferenc

[The place of orthorexia nervosa (ON) - described by Bratman in 1997 - is not clearly defined in the diagnostic systems. However, the increasing number of clinical experiences and research data gives us more and more information about the epidemiology, and the social and individual characteristics of ON. The general population shows a 6.9% prevalence of ON; healthcare professionals are at high risk of ON with the prevalence rate of 35-57.6%. Education, the choice of profession, socioeconomic status and the internalization of the ideals of society are significant factors in the development of ON, while sex, age and body mass index do not seem to be determining variables in this respect. The lack of common criteria and proper research results on ON makes it impossible to generalize data on the general population. Further studies with larger representative samples and assessment instruments with good psychometric properties are necessary to make research data on ON comparable.]

Clinical Neuroscience

[Prenatal diagnosis of central nervous system malformations]

LANGMÁR Zoltán, NÉMETH Miklós, CSABA Ákos, SZIGETI Zsanett, JOÓ József Gábor

[The prenatal diagnosis of fetal malformations have been the subject of numerous publications in the literature. This has dramatically increased in the last 15 years, mainly due to the advent of high-resolution ultrasound. In addition adequate guidelines issued by professional organizations have encouraged the universal approach to the imaging of fetal anatomy as well as malformations. One of the most significant groups of the fetal anomalies is the central nervous system malformation. Due to its prevalence and severity the praenatal diagnostics of central nervous system malformations got basic significance. In this review we attempted to summarize the recent informations concerning the praenatal diagnostics of the central nervous system anomalies.]

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

[Exploration of quality of life goals in rehabilitation of persons after spinal cord injury]

TÓTH Katalin, PUTZ Miklós, KULLMANN Lajos

[Background and purpose - Surveyed references indicate improvement of rehabilitation outcomes if based on exploration of personal rehabilitation goals or quality of life goals. Purpose of our study is mapping of quality of life goals of persons entering rehabilitation by structured interviews, and study of applicability of the method. Methods - Structured interviews have been performed with persons consecutively admitted for their first rehabilitation intervention, meeting inclusion criteria. World Health Organization’s quality of life measure brief version and disability module served as guideline for the interviews. For study any negative effect on rehabilitation of our approach we have compared rehabilitation outcomes of consecutively admitted persons immediately before starting our study (58) and those with closed rehabilitation intervention (53). For this purpose the Functional Independence Measure was used. Finally content analysis of the interviews has been performed. Results - In 24 cases complications and psychological instability have prevented the inclusion, seven persons did not agree into participation in the study. Of the 71 interview participants the rehabilitation of 53 persons concluded. Their rehabilitation outcomes are better as of the control group significant difference has been measured in the social functions domain. Quality of life of included persons decreased during the rehabilitation process insignificantly, the autonomy domain showed insignificant improvement, the inclusion domain did not change. Content analysis revealed the outstanding role of the family among quality of life goals. Conclusions - Reported results indicate that exploration of quality of life goals of persons in early phase of rehabilitation after spinal cord injury is feasible. The selected quality of life measure may well support the interviews.]

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.]

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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.]

Hypertension and nephrology

[Association between cyclothymic affective temperament and hypertension]

NEMCSIK János, BATTA Dóra, KŐRÖSI Beáta, RIHMER Zoltán

[Affective temperaments (cyclothymic, hypertymic, depressive, anxious, irritable) are stable parts of personality and after adolescent only their minor changes are detectable. Their connections with psychopathology is well-described; depressive temperament plays role in major depression, cyclothymic temperament in bipolar II disorder, while hyperthymic temperament in bipolar I disorder. Moreover, scientific data of the last decade suggest, that affective temperaments are also associated with somatic diseases. Cyclothymic temperament is supposed to have the closest connection with hypertension. The prevalence of hypertension is higher parallel with the presence of dominant cyclothymic affective temperament and in this condition the frequency of cardiovascular complications in hypertensive patients was also described to be higher. In chronic hypertensive patients cyclothymic temperament score is positively associated with systolic blood pressure and in women with the earlier development of hypertension. The background of these associations is probably based on the more prevalent presence of common risk factors (smoking, obesity, alcoholism) with more pronounced cyclothymic temperament. The scientific importance of the research of the associations of personality traits including affective temperaments with somatic disorders can help in the identification of higher risk patient subgroups.]

Clinical Neuroscience

Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

Clinical Neuroscience

Acute effect of sphenopalatine ganglion block with lidocaine in a patient with SUNCT

KOCATÜRK Mehtap, KOCATÜRK Özcan

Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing/short-lasting unilateral neuralgiform headache with cranial autonomic features (SUNCT/SUNA) is a rare severe headache. At the time of an attack, it can hinder a patient from eating and requires acute intervention. The sphenopalatine ganglion is an extracranial parasympathetic ganglion with both sensory and autonomic fibers. Sphenopalatine ganglion block has long been used in the treatment of headache, particularly when conventional methods have failed. Here, we present a patient who was resistant to intravenous lidocaine, but responded rapidly to sphenopalatine ganglion block during an acute episode of SUNCT/SUNA.