Clinical Neuroscience

[Sarcoidosis of the skeletal muscle ]

HORÁNYI Béla1, MOLNÁR Sándor1, STIPULA Magda1

FEBRUARY 01, 1967

Clinical Neuroscience - 1967;20(02)

[From the material of our clinic, 2 cases of muscle sarcoidosis confirmed by muscle biopsy are described, the first of which can be classified as a typical, so-called myopathic form, the second as an asymptomatic form (found as a sub-symptom of general sarcoidosis). We have discussed the clinical, laboratory, electromyographic and pathological aspects of muscular sarcoidosis.]

AFFILIATIONS

  1. Budapesti Orvostudományi Egyetem Neurológiai Klinika

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Clinical Neuroscience

Die Bedeutung der Kinderneuropsychiatrie für die Kindererziehung

GERHARD Göllnitz

Nach einem Überblick über die neuropsychiatrischen Probleme von Kindern mit verschiedenen genetischen Ursprüngen und Bildungsdefiziten hebt der Autor die besondere Bedeutung der Früherkennung hervor. Neben der Prophylaxe sind die frühzeitige Erkennung von Entwicklungsstörungen und eine frühzeitige Therapie die einzige Möglichkeit, eine wirksame medizinische Intervention zu gewährleisten. Der Autor stellt ein in Rostock entwickeltes Verfahren zur Früherkennung vor. Diese Regelung sollte auf Kinder im Alter von 6, 15 Monaten und 3 Jahren angewendet werden.

Clinical Neuroscience

[Alcoholism as a social psychiatric and health policy problem]

JUHÁSZ Pál

[Alcohol consumption is also on the rise in Hungary, with wine consumption up by 3% and beer and spirits by 30% in the last four years. The village's consumption of pálinka is higher than the national average, at 3.8 litres per capita per year instead of 5.9 litres per capita per year, due to insufficient supplies of wine and beer. Alcoholism is not the same as alcohol consumption. The social origins of alcoholism are: liberal attitudes towards excessive alcohol consumption, insufficient health education, frequent neurotic conditions, cynical - nihilistic world view and the social 'sub-depression' that goes with it, and shortcomings in child-rearing. The study points out, by discussing certain aspects, that only a broadly organised health policy can be effective in the fight against alcoholism. ]

Clinical Neuroscience

[Angiospasm and hypothalamic laesio associated with rupture and surgery of cerebral aneurysms]

OROSZ Éva, PÁSZTOR Emil, JUHÁSZ János

[Our work is based on the observations of 190 patients with verified carotid aneurysms. The aim of our study was to investigate angiospasm and hypothalamic damage associated with aneurysmal rupture. Clinical data and angiograms of 144 patients were processed for angiospasm. We found that the vasospasm associated with aneurysm rupture is not always accompanied by rupture, decreases proportionally with time since the haemorrhage and usually the degree of spasm, although not always, parallels the clinical picture. The spasm detected on angiography is in the majority of cases not only proximal to the aneurysm, but also circumscribed, if not often more extensive, and even detected in the contralateral vessels. The presence of spasm may be perceived as an aggravating factor for operability. Analysing the deaths of patients with aneurysms who died with or without surgery in our institute, we found that in 23 cases the cause of death was hypothalamic damage. We analyse in detail the specific clinical picture, which we call acute hypothalamic lesion, which differs from the symptoms of chronic hypothalamic laesio known from the literature. We support our clinical observations with pathological material (not detailed in this communication). The clinical picture of acute hypothalamic lacrosis after aneurysm rupture, associated with spasm on angiography, almost invariably implies a lethal prognosis, whether the patient is operated or treated conservatively.]

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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.

Clinical Neuroscience

[The importance of patient reported outcome measures in Pompe disease]

MOLNÁR Mária Judit, MOLNÁR Viktor, LÁSZLÓ Izabella, SZEGEDI Márta, VÁRHEGYI Vera, GROSZ Zoltán

[In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Pompe disease is a genetically determined lysosomal storage disease featuring severe limb-girdle and axial muscle weakness accompanied with respiratory insufficiency, in which enzyme replacement therapy (ERT) now has been available for 15 years. In our present study, patient reported outcome measures (PROMs) for individuals affected with Pompe disease were developed which included questionnaires assessing general quality of life (EuroQoL, EQ-5D, SF36), daily activities and motor performance (Fatigue Severity Score, R-PAct-Scale, Rotterdam and Bartel disability scale). Data were collected for three subsequent years. The PROM questionnaires were a good complement to the physician-recorded condition assessment, and on certain aspects only PROMs provided information (e.g. fatigue in excess of patients’ objective muscle weakness; deteriorating social activities despite stagnant physical abilities; significant individual differences in certain domains). The psychological effects of disease burden were also reflected in PROMs. In addition to medical examination and certain endpoints monitored by physicians, patient perspectives need to be taken into account when assessing the effectiveness of new, innovative treatments. With involvement of patients, information can be obtained that might remain uncovered during regular medical visits, although it is essential in determining the directions and priorities of clinical research. For all orphan medicines we emphasize to include patients in a compulsory manner to obtain general and disease-specific multidimensional outcome measures and use them as a quality indicator to monitor treatment effectiveness.]

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.

Clinical Neuroscience

The effect of starting a meal with salt and date palm on taste impairment caused by COVID-19

ALTUN Yasar , BULBULOGLU Semra

This study was conducted to examine the effect of starting a meal with salt and date palm on the sense of taste in COVID-19 patients. This study was conducted using a randomized controlled method. Patient and disease information forms and Visual Analog Scale were used for data collection. Salt and date palm were used to stimulate the sense of taste in two different experimental groups. No procedure was made in the control group except for the practice of the clinic. The results were analyzed using SPSS version 25. The mean ages of all groups were between 43.42 ± 8.60 and 47.22 ± 12.04 years. Fever, sore throat, dry mouth, cough, muscle weakness, and similar symptoms were present in all groups. Significant improvements were found in patients with hypoageusia and ageusia after date palm and salt application (p<0.01). For taste impairment caused by COVID-19, consumption of date palm and tasting very little salt for therapeutic purposes may help to alleviate taste impairment. Based on the data obtained from this study, the pathophysiology of the effects of date palm and salt on taste complications should be investigated.

Clinical Neuroscience

How to manage MuSK antibody-positive myasthenic crisis during pregnancy?

ÇETİNER Mustafa , AKDAĞ Gönül , AKKOYUN ARIKAN Fatma, CANBAZ KABAY Sibel

Myasthenia gravis (MG) is an autoimmune disease that is characterised by the formation of antibodies against acetylcholine receptors in the postsynaptic membrane of the neuromuscular junction. The course of the disease cannot be predicted during pregnancy. A subtype of MG with positive muscle-specific receptor tyrosine kinase (anti-MuSK) antibodies exhibits more localised clinical characteristics and a poor response to treatment compared with the disease subtype that involves positivity for acetylcholine receptor antibodies. Myasthenic crisis is more frequently observed in anti-MuSK-positive myasthenia patients. Anti-MuSK-positive myasthenic crisis management is very difficult and a risky situation during pregnancy. The reported case was 30 years old, female, 9 weeks pregnant and musk antibody positive. She stopped her treatment without asking her doctor because she was planning pregnancy in the 6-month period before her hospitalization. She was intubated for a long time in the intensive care unit due to myasthenic crisis and was very resistant to treatment. During this period, her pregnancy was terminated due to fetal anomaly. Plasmapheresis, IVIg and immunosuppressive treatments were applied. Our patient was discharged after a period of about 10 weeks. We share our treatment management.