Clinical Neuroscience

[The significance of orbital congestion in the diagnosis of closed head injury]

ÁFRA Dénes1, NAGY Vilmos1

JUNE 01, 1965

Clinical Neuroscience - 1965;18(06)

[Parietal congestion occurred in 43 of 259 closed head injury cases 1-6 weeks after the accident. During the subacute phase, 9 of 44 intracranial haematomas presented with congestive papilledema, while 11 of 103 patients without a space-occluding haemorrhage presented with the same fundus lesion. In the chronic period congestion of the fundus always occurred in the presence of subdural haematoma with one exception. The examination findings of the injured patients without haematoma with congestion included moderate disturbance of consciousness, neurological nodal symptoms, corresponding EEG abnormalities and abnormal CSF values. The contrast studies performed gave normal images with two exceptions. Moderate vascular dislocation in one patient and marked vascular dislocation in the second patient on AP angiogram resolved after 14 days of contrast. The subacute subocular lesion can be interpreted as a symptom of diffuse or circumscribed posttraumatic cerebral oedema, which always plays a role in the clinical picture. The suspicion of intracranial haemorrhage necessarily requires a contrast study (carotid angiography). ]

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Clinical Neuroscience

[Changes in the fibre contingent and caliberspectrum of spinal anterior roots in amyotrophic lateral sclerosis]

SZENDRŐI Mária, BOZSIK György

[Authors have processed 88 spinal anterior peduncles from 10 ALS cases. The fibre count and caliber measurement data showed that the cervical and thoracic anterior roots were most affected. Lesions were more modest in the lower thoracic and lumbar segments. The reduction in the number of root fibres was very marked in some cases. In ALS, the caliberspectrum varies, with the decrease in the number of thicker fibres (8-10 Y) being the earliest and most significant.]

Clinical Neuroscience

[Cerebral blood flow studies using the isotope dilution method]

SZÁNTÓ József, GALLYAS Ferenc

[The authors present cerebral circulation data from a few patients in whom characteristic circulatory dynamics abnormalities were found, using their modified version of the isotope fluctuation circulation test method to demonstrate the performance of the method. The method allows a large number of circulatory data to be determined simultaneously (circulation times, blood flow through the brain, brain blood volume, cardiac output, circulating blood volume). From the shape and the relative position of the dilution curves, it is also possible to deduce circulatory dynamic abnormalities: e.g. thrombosis of the carotid intima-media, vascular malformations and, from the confusion in the arterial phasis, pathological processes of arterial origin in one hemisphere.]

Clinical Neuroscience

[Effect of local hypothermia on brain electrical activity. Application of Peltier effect cooling head ]

PÁSZTOR Emil, TOMKA Imre, DEÁK György

[1. The Peltier effect cooling head is suitable for localized but well-controlled surface cooling of the brain. 2. Based on theoretical calculations and practical measurements, the limits of the deep penetration of surface cooling are determined. 3. Provided new data on the effects of surface cooling on brain electrical activity and strychnine spike activity. 4. We investigated the effect of local cooling on epileptiform electrical activity during surgery in a patient with temporal epilepsy.]

Clinical Neuroscience

[Polyarteritis nodosa manifesting as neuro-radiculo-myelitis]

KÖNYVES-KOLONICS László, PÉLEY Domokos, HARASZTI Antal

[Authors describe a monosystemic case of polyarteritis nodosa localized only to the nerves. Clinically, in addition to the typical general symptoms and the typical course of the disease, organ symptoms were observed only in the nervous system. Detailed pathological and histopathological examination was consistent with clinical signs. Typical pathological lesions were found in the brachial vaso-anatritis of the brachial plexus, the veins of the cerebellar cortex, the bridge and the upper segments of the spinal cord.]

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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

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

Cholinesterase inhibitors and memantine for the treatment of Alzheimer and non-Alzheimer dementias

BALÁZS Nóra , BERECZKI Dániel, KOVÁCS Tibor

In aging societies, the morbidity and mortality of dementia is increasing at a significant rate, thereby imposing burden on healthcare, economy and the society as well. Patients’ and caregivers’ quality of life and life expectancy are greatly determined by the early diagnosis and the initiation of available symptomatic treatments. Cholinesterase inhibitors and memantine have been the cornerstones of Alzheimer’s therapy for approximately two decades and over the years, more and more experience has been gained on their use in non-Alzheimer’s dementias too. The aim of our work was to provide a comprehensive summary about the use of cholinesterase inhibitors and memantine for the treatment of Alzheimer’s and non-Alzheimers’s dementias.

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

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.