Clinical Neuroscience

Sur la sémiologie des idioties amaurotiques du type Tay-Sachs en survie prolongée

L. van Bogaert, J. J. Martin

JANUARY 01, 1968

Clinical Neuroscience - 1968;21(01)

Etude clinique d'une idiotie amaurotique de Tay-Sachs à évolution prolongée sous l'angle des signes de décérébration, des réflexes primitifs et des manifestations d'automatisme médullaire.

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Clinical Neuroscience

[Pemphigus cases with lesions found in the spinal ganglia ]

BALÓ József

[Based on our experience with zoster cases, we have examined the spinal ganglia of 82 cases of pemphigus over the last 20 years to see if there are any phenomena that could explain the skin lesions. The lesions found, partly macroscopic but mainly histopathological, suggest that such a link between lesions in the spinal ganglia and skin disease exists. In addition to the acute signs of inflammation, there are also lesions that can be classified as chronic, such as those involving nerve fibres, nuclei, supporting tissue of the ganglia and lesions of the meninges. Diseases of the spinal ganglia are projected onto the skin, which makes pemphigus a cutaneous trophoneurosis. In addition to the morphological phenomena, the question is what aetiological factors are involved in its creation. This remains to be determined in the future. ]

Clinical Neuroscience

Observations upon the So-colled Idiots Savants

CRITCHLEY Macdonald

In drawing the foregoing generalisations it is necessary to realise their limitations. We must agree with the conclusions arrived at by Mitchell, who recognised at least three psychological categories: (1) the “calculating prodigies — who may be persons of inferior intellectual calibre and who rely upon ingenious shortcuts; (2) arithmetical prodigies like Colburn, and Dase, with a moderately well developed knowledge of arithmetic; and (3) mathematical geniuses, such as the elder Bidder. These are endowed with exceptional abilities, and their knowledge of pure mathematics is profound.

Clinical Neuroscience

Thorium granulomas in the brain

FREEMAN Walter

Thorotrast was used in 1936 and 1937 to demonstrate the lesions of prefrontal lobotomy. Four patients came to autopsy after 10-22 years, and in each, one or more thorium granulomas were found. These masses ranged from 6 X 8 mm to 8X12 mm in size, were composed of hyaline material enclosed by a thick capsule of mixed connective and glia tissue, and surrounded in part by large phagocytes filled with thorium dioxide particles. Dense connective tissue developed in sulci where thorotrast escaped into the subarachnoid spaces, and marked gliosis with desquamation of the ependyma occurred when it entered the ventricles. The phagocytes in the cases with longer survival often showed vacant cavities where the nuclei should have been. Neurons in the vicinity showed no obvious lesions. The material was described as containing "a very strong thorium source.” It is believed that the alpha particles given off by the thorium are responsible for the formation of the granulomas and, after many years, for the death of the phagocytes. Thorium can safely be used in the brain only for the demonstration of cysts and abscesses which can then be completely removed. A case of such employment was described by Lehoczky in 1939.

Clinical Neuroscience

Télangiectasies de la moelle dorsale révélées à l'âge de 75 ans par une myelopathie transverse, avec une digression sur l'atrophie spinale segmentaire

GARCIN Raymond, LAPRESLE Jean

L'observation que nous rapportons tire son intêret de la révélation extrêmement tardive (75 ans) d'un angiome de la moelle de type capillaire, resté jusque là cliniquement muet. Elle illustre la longue latence possible des mal formations vasculaires de la moelle, et elle montre qu'il faut toujours penser à cette étiologie devant une affection médullaire dont la cause nous échappe.

Clinical Neuroscience

[Maladies infectieuses extraneurales du système nerveux complications]

KÖRNYEY István

[Overview of neurological complications of common infectious diseases it is most useful to start from the following classification of encephalomyelitis based on its pathophysiological features, although only certain types are associated with our thymus: 1. meningo-encephalitis; 2. metastatic nodular encephalitis (abscess); 3. diffuse encephalitis, mainly involving the cerebral cortex; 4. polioencephalomyelitis, with pre-dilection areas of the brainstem disease of the prefrontal lobes of the brain; 5. panencephalitis; 6. leukoencephalitis.]

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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

[The Comprehensive Aphasia Test in Hungarian]

ZAKARIÁS Lilla, RÓZSA Sándor, LUKÁCS Ágnes

[In this paper we present the Comprehensive Aphasia Test-Hungarian (CAT-H; Zakariás and Lukács, in preparation), an assessment tool newly adapted to Hungarian, currently under standardisation. The test is suitable for the assessment of an acquired language disorder, post-stroke aphasia. The aims of this paper are to present 1) the main characteristics of the test, its areas of application, and the process of the Hungarian adaptation and standardisation, 2) the first results from a sample of Hungarian people with aphasia and healthy controls. Ninety-nine people with aphasia, mostly with unilateral, left hemisphere stroke, and 19 neurologically intact control participants were administered the CAT-H. In addition, we developed a questionnaire assessing demographic and clinical information. The CAT-H consists of two parts, a Cognitive Screening Test and a Language Test. People with aphasia performed significantly worse than the control group in all language and almost all cognitive subtests of the CAT-H. Consistent with our expectations, the control group performed close to ceiling in all subtests, whereas people with aphasia exhibited great individual variability both in the language and the cognitive subtests. In addition, we found that age, time post-onset, and type of stroke were associated with cognitive and linguistic abilities measured by the CAT-H. Our results and our experiences clearly show that the CAT-H provides a comprehensive profile of a person’s impaired and intact language abilities and can be used to monitor language recovery as well as to screen for basic cognitive deficits in aphasia. We hope that the CAT-H will be a unique resource for rehabilitation professionals and aphasia researchers in aphasia assessment and diagnostics in Hungary. ]

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.

Lege Artis Medicinae

[Focus on Lege Artis Medicinae (LAM)]

VASAS Lívia, GEGES József

[Three decades ago, LAM was launched with the goal of providing scientific information about medicine and its frontiers. From the very beginning, LAM has also concerned a special subject area while connecting medicine with the world of art. In the palette of medical articles, it remained a special feature to this day. The analysis of the history of LAM to date was performed using internationally accepted publication guidelines and scientific databases as a pledge of objectivity. We examined the practice of LAM if it meets the main criteria, the professional expectations of our days, when publishing contents of the traditional printed edition and its electronic version. We explored the visibility of articles in the largest bibliographic and scientific metric databases, and reviewed the LAM's place among the Hun­ga­rian professional journals. Our results show that in recent years LAM has gained international reputation des­pite publishing in Hungarian spoken by a few people. This is due to articles with foreign co-authors as well as references to LAM in articles written exclusively by foreign researchers. The journal is of course full readable in the Hungarian bibliographic databases, and its popularity is among the leading ones. The great virtue of the journal is the wide spectrum of the authors' affiliation, with which they cover almost completely the Hungarian health care institutional sys­tem. The special feature of its columns is enhanced by the publication of writings on art, which may increase Hungarian and foreign interest like that of medical articles.]