Clinical Neuroscience

[The significance of diagnostic errors in brain tumours]

GÁTAI György1

JANUARY 01, 1966

Clinical Neuroscience - 1966;19(01)

[A more significant reduction in errors can only be achieved if the sources of error are made known and if education, organisation and the various disciplines are involved and assisted. We must take every opportunity to give the issue publicity commensurate with its importance. This is the third, but not the last, reason for discussing the diagnostic problems of brain tumours and the importance of early diagnosis. ]

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  1. Országos Idegsebészeti Tudományos Intézet

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Further articles in this publication

Clinical Neuroscience

[Investigating factors in the development of neuromorbidity in female phonophonists]

BÁLINT István, HÓDOS Tibor

[The authors used a statistical analysis to determine the place of the textile industry, and within it the spinning mills, in the structure of the industry's neuro-morbidity. This showed that spinning mills have been ranked second or third for several years with high rates of neuro-morbidity. An investigation of the role of occupational factors in causing this neuro-morbidity was carried out in one of the spinning mills with a high neuro-morbidity rate. The most relevant components of physical stress, static work, are identified as high temperatures, high relative humidity, insufficient lighting, high noise exposure, which are now technologically unjustified. Measurement data are provided for these. The dominant factor in psychological stress is considered to be the need for sustained attention and the need for constant attention-sharing. The lack of breaks between work periods is considered to be an indication of inadequate work and rest patterns. The results of the attention span and hand tremor tests of neurotic and control groups showed that neurotics were significantly more fatigued in the middle of the shift than controls. As a call to reduce the overall workload, the instrumental test results of the control subjects at the end of the shift were found to differ only non-significantly from those of the neurotics. ]

Clinical Neuroscience

[Amino acid distribution in cerebrospinal fluid (I.) Arginine]

SZILÁGYI Á. Katalin, PATAKY István

[Colorimetric arginine determinations were performed in CSF cerebrospinalis and serum, which were found normal by routine laboratory methods. It was concluded that the conflicting values in the world literature could be explained by the site of CSF collection and the amount of CSF taken, because the arginine content of cysternal CSF is higher than that of lumbar CSF. A correlation has been found between the arginine level in lumbar CSF and the serum level found in the same individual. There also appears to be a numerical correlation between CSF arginine levels and age (decreasing progressively with advancing age), but this correlation is not statistically proven. ]

Clinical Neuroscience

[Changes in brain bioelectrical activity in experimental hyperoxia]

SZÁM István, NIKOLITS Ilona, GOTTSEGEN György

[The electroencephalogram of experimental rats exposed to oxygen at 3.7 atm - recorded by means of built-in cortical electrodes - shows coarse, non-specific amplitude and frequency changes and spike discharges. The onset of EEG changes precedes the onset of respiratory and cardiac impairment and the earliest phase of the development of 'hyperoxic' pulmonary oedema; arterial blood 02 saturation is also normal at this time. The sequestration of CO2 produced by the animals, and thus the prevention of CO2 rebreathing, delays the onset of EEG changes and partially prevents the development of spike potentials. Impaired bioelectrical activity in the brain is the earliest symptom of oxygen toxicity. ]

Clinical Neuroscience

[Large intracerebral aneurysm case]

EPSTEIN Ottó, VAATAY Irén

[The authors describe a case of a large intracerebral aneurysm in the right frontal lobe, which probably caused at least two small haemorrhages and neurological symptoms. In the end, it produced mainly psychiatric lesions in addition to milder neurological symptoms, and these required the patient to be admitted to a psychiatric ward. Death was caused by intercurrent bronchopneumonia, whereas at autopsy the aneurysm was intact and the symptoms observed were causally related to the location and size of the aneurysm and the pressure it exerted. ]

Clinical Neuroscience

[Carotid angiography in elderly and arteriosclerotic patients]

SZEGEDY László, HAITS Géza

[Authors report on 422 carotid angiographies performed in elderly patients with cerebrovascular damage. No complications were observed in any of the 482 angiographic studies. 64 patients showed marked improvement after angiography. Authors analyze the problems of angiography in vascular patients based on literature data and their own patient records. ]

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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

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.]

Lege Artis Medicinae

[Diagnosis and treatment of microvascular coronary heart disease. Specialities of conditions in Hungary]

SZAUDER Ipoly

[Invasive investigations show that in two-thirds of patients the myocardial ischaemia persists without obstructive coronary disease and any other heart conditions (INOCA). The underlying cause may be microvascular dysfunction (CMD) with consecutive microvascular coronary disease (MVD) and microvascular or epicardial vasospastic angina (MVA). The modern practice of clinical cardiology while using the developed non-invasive cardiac imaging permits exact measuring of the coronary flow with its characteristic indices. All of these improve the diagnosing of CMD-induced myocardial ischemia and provide opportunity to determine primary MVD cases. Since the recognition and treatment of MVD is significantly underrep­resented in the Hungarian medical care, the primary stable microvascular angina (MVA) is described in detail below with its modern invasive and non-invasive differential diagnosis and treatment, concerning especially its frequency provoked by high blood pressure and female coronary heart diseases. There are highlighted all recommended diagnostic procedures available under domestic conditions.]

Clinical Neuroscience

Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.