Clinical Neuroscience

[Congenital absence of cerebellum]

VERES János1, BODÁNSZKY Hedvig1

JUNE 01, 1966

Clinical Neuroscience - 1966;19(06)

[In conclusion, it is a metameric developmental disorder, of which cerebellar agenesis is an extremely rare feature. Among the factors leading to intrauterine harm, heredity, X-ray, radium harm, mechanical impact and viral diseases cannot be proven. ]

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  1. Budapesti Orvostudományi Egyetem I. Kórbonctani és Kísérleti Rákkutató Intézete és II. Gyermekklinikája

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Clinical Neuroscience

[Experimental porphyrism and its relevance to human disease ]

LEHOCZKY Tibor, SÓS József, SELMECY László, HALASY Margit

[Authors have induced experimental porphyria in white rats. 13 animals with allyl isopropyl acetamide carbamide (Sedormid), 6 with griseofulvin (Likuden). This is the first successful experiment in the rat, having only been done in mice. The combined results of the two experiments: in all cases (19) very severe lesions were observed in the spinal cord and cortical neurons; spongiotic degeneration was observed in the white matter of the spinal cord of 16 animals, in the hippocampus and brainstem of 4 animals; in 2 cases demyelination was seen in the Burdach tracts of the spinal cord; finally, small haemorrhages were observed in the spinal grey horns of 3 animals. These experiments have demonstrated that the clinical signs described in experimental porphyria have a solid neurological basis. Their results are consistent with the neuropathological lesions reported in human disease, and thus their experiments are experimental evidence of human clinicopathological findings. ]

Clinical Neuroscience

[Evaluation of the treatment of depression (comparative, retrospective analysis)]

VARGA Ervin, JULES Angst, MICHAEL Shpherd

[We compared 3 common somatic treatments for depressive disorders [ES, Imipramine, Monoamine Oxidase Inhibitors (MAOIs)].]

Clinical Neuroscience

[Lethal mumps encephalitis in a six-year-old child]

NAGY József, JURÁSZ Gabriella

[The authors describe a case of mumpssencephalitis with lethal outcome in a 6-year-old child, together with detailed brain histology findings. The clinical picture was characterized by the absence of meningeal symptoms, the predominance of disturbance of consciousness and the late onset of neurological laesio. The parainfectious type of encephalitis is localized mainly in the immediate vicinity of ventricles III and IV, which explains the peculiarities of the clinical course. The parotid and submandibular salivary glands and interstitial inflammation of the testis are sub-symptoms of mumps and also prove the mumps origin of the encephalitis. ]

Clinical Neuroscience

[Addendum to the pathology of symptomatic narcolepsy]

POHL Ödön

[The author describes the case of a 52-year-old man who had a history of typhoid narcoleptic seizures with hypnagogic hallucinations for a year. The pathological findings showed a picture of an abortive, indeterminate polyoencephalitis with the focus of the inflammatory lesion located in the area paramediana posterior to the grey matter of the periventricular grey matter of the thalamus.]

Clinical Neuroscience

[Curing phantom pain with postcentral topectomy]

DEÁK György, TÓTH Szabolcs

[The authors describe the course of their 2 patients with phantom limb pain treated with postcentral topectomy. One of their patients has been pain-free for 5 years and, to their knowledge, this is the second longest pain-free period after topectomy in the literature. The worsening of their other patient after a temporary improvement was partly related to inflammation in the stump after surgery - as a peripheral excitation - and partly to the late surgery of a patient who was alcoholic and consumed alkaloids. Based on the literature and on their own studies of patients, they argue that the essence of phantom pain is a disturbance of the body pattern that is more crucial than peripheral pathological stimuli, and that is an unusual and unpleasant experience. They recommend early cortical or subcortical surgery to eliminate the pathological body schema in cases of ineffective conservative or peripheral surgical treatment. ]

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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.

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[Thiazide- or thiazide-like diuretics should be used in the treatment of patients with hypertension? Particularities of the situation in Hungary]

VÁLYI Péter

[Diuretics have remained the cornerstone of the antihypertensive treatment since their widespreading in the 1960s. According to the 2018 ESC/ESH Guidelines for the management of arterial hypertension, in the absence of evidence from direct comparator trials and recognizing that many of the approved single-pill combinations are based on hydrochlorothiazide, this drug and thiazide-like indapamide can be considered suitable antihypertensive agents. In the 2018 Hungarian guidelines indapamide is named as the most efficacious diuretic in the treatment of patients with hypertension. The aim of the publication is redefining thiazide- and thiazide-like diuretic use in the treatment of hypertensive patients, with particular attention to presently available hydrochlorothia­zide and indapamide, and their combination drugs in Hungary.]

Clinical Neuroscience

A rare entity of acquired idiopathic generalised anhidrosis which has been successfully treated with pulse steroid therapy: Does the histopathology predict the treatment response?

ÖKTEM Özdemir Ece, ÇANKAYA Şeyda, UYKUR Burak Abdullah, ERDEM Simsek Nazan, YULUG Burak

Acquired idiopathic generalised anhidrosis is an uncommon sweating disorder characterized by loss of sweating in the absence of any neurologic, metabolic or sweat gland abnormalities. Although some possible immunological and structural mechanisms have been proposed for this rare entity, the definitive pathophysiology is still un­clear. Despite some successfully treated cases with systemic corticosteroid application, the dose and route of steroid application are controversial. Here, we present a 41-year-old man with lack of genera­lised sweating who has been successfully treated with high dose pulse intravenous prednisolone. We have discussed his clinical and histopathological findings as well as the treatment options in view of the current literature.

Clinical Neuroscience

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation

ÇAKAR Emel Nafiye, GÖR Zeynep, YEŞIL Gözde

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal inherited metabolic disorder in which the β-oxidation of the long chain fatty acids is defective. The clinical presentation may be in various forms; it presents itself in the severe form during neonatal and infantile periods and as the less severe myopathic form in the school age and adolescence. While the severity of the rhabdomyolysis attacks varies, occasionally the clinical course may be complicated with acute renal failure. Acylcarnitine analysis may help in the diagnosis of CPT II, but its normality does not indicate the absence of the disease. If there is strong suspicion, genetic analysis should be performed on the cases. In this article, we present a 15-year-old male patient who had two rhabdomyolysis attacks triggered by infection and starvation. Acylcarnitine analysis of the case was normal, CPT II deficiency was considered when the history was evaluated, and CPT II gene c.137A>G (p.Gln46Arg) homozygous novel pathogenic mutation was detected. CPT II deficiency is one of the most common causes of metabolic rhabdomyolysis in patients with recurrent episodes of rhabdomyolysis.

Clinical Neuroscience

Wnt pathway markers in low-grade and high-grade gliomas

NAGY Ádám, TOMPA Márton, KRABÓTH Zoltán, GARZULY Ferenc , MARÁCZI Alexandra , KÁLMÁN Bernadette

Aberrant activation of the Wnt pathway contributes to differentiation and maintenance of cancer stem cells underlying gliomagenesis. The aim of our research was to determine as to what degrees some Wnt markers are expressed in gliomas of different grades, lineages and molecular subtypes. Nine grade II, 10 grade III and 72 grade IV surgically removed, formalin-fixed paraffin-embedded glioma specimens were included. Mutation status of IDH1 codon 132 was defined by immunohistochemistry and pyrosequencing in all tumors. Grade II and III astrocytic and oligodendroglial tumors were further tested for the expression of p53 and ATRX by immunohistochemistry, and codeletion of 1p19q by fluorescent in situ hybridization. Expression levels of the non-canonical Wnt5a and Fzd2, and the canonical Wnt3a and beta-catenin Wnt pathway markers were determined by immunohistochemistry, and compared between subgroups stratified according to grade, lineage and the presence or absence of IDH1 R132H/C mutations. In the normal brain – grade II-IV glioma comparisons, a gradual increase was observed for the expressions of Wnt5a, Wnt3a, Fzd2 and beta-catenin. In the astroglial and oligodendroglial lineages of grade II and III gliomas, only the Wnt5a expression was significantly higher in the astroglial subgroup. Stratification according to the IDH1 status resulted in a significant increase of the Wnt3 expression in the wild type grade II-IV gliomas. These data extend previous observations and show a correlation of Wnt pathway activity with glioma grade. Further investigations of the Wnt marker expression regulation according to glioma lineage or IDH gene mutational status are in progress by using more exact molecular approaches.