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Clinical Neuroscience

SEPTEMBER 30, 2020

[Pompe disease treated with enzyme replacement therapy in pregnancy]

GROSZ Zoltán, VÁRDI Visy Katalin, MOLNÁR Mária Judit

[Pompe disease is a rare lysosomal storage disease inherited in a recessive manner resulting muscular dystrophy. Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and severe cardio-respiratory failure are common leading to death within 2 years if left untreated, while the late-onset form is characterized with limb-girdle and axial muscle weakness accompanied with respiratory dysfunction. Pompe disease has been treated with regular intake of the missing enzyme since 2006, which significantly improved the survival and severity of symptoms in patients of both subtypes. The enzyme replacement therapy (ERT) is safe and well tolerated. However, limited data are available on its use in pregnancy. Our goal is to share our experience and review the literature on the safety of enzyme replacement therapy for Pompe disease during pregnancy and post partum.]

Clinical Neuroscience

JULY 30, 2020

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

JULY 30, 2020

[The complex intensive care and rehabilitation of a quadriplegic patient using a diaphragm pacemaker]

FODOR Gábor, GARTNER Béla, KECSKÉS Gabriella

[A 21 year female polytraumatized patient was admitted to our unit after a serious motorbike accident. We carried out CT imaging, which confirmed the fracture of the C-II vertebra and compression of spinal cord. Futhermore, the diagnostic investigations detected the compound and comminuted fracture of the left humerus and femur; the sacrum and the pubic bones were broken as well. After the stabilization of the cervical vertebra, a tracheotomy and the fixation of her limbs were performed. She spent 1.5 years in our unit. Meanwhile we tried to fix all the medical problems related to tetraplegia and respiratory insufficiency. As part of this process she underwent an electrophysiological examination in Uppsala (Sweden) and a diaphragm pacemaker was implanted. Our main goal was to reach the fully available quality of life. It is worth making this case familiar in a wider range of public as it could be an excellent example for the close collaboration of medical and non-medical fields.]

Clinical Neuroscience

MARCH 30, 2020

CANOMAD syndrome with respiratory failure

SALAMON András, DÉZSI Lívia, RADICS Bence, VARGA Tímea Edina, HORTOBÁGYI Tibor, TÖMÖSVÁRI Adrienn, VÉCSEI László, KLIVÉNYI Péter, RAJDA Cecília

CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, M-protein agglutination, disialosyl antibodies) syndrome is a rare polyneuropathy. IgM paraproteins react with ganglioside-containing disialylated epitopes resulting in dorsal root ganglionopathy and B-lymphocyte infiltration of cranial and peripheral nerves. Clinical features include ataxia, slight muscle weakness, areflexia, sensory- and cranial nerve symptoms. Case studies have reported the efficacy of rituximab and intravenous immunoglobulin (IVIg) treatments. We present the case of a 57-year-old man, who had difficulty walking, with numbness and clumsiness in all limbs. He had areflexia, vibratory sensation loss and ataxia. Laboratory tests showed IgM monoclonal components and disialosyl antibodies in the serum. Nerve conduction studies indicated severe sensorimotor demyelinating polyneuroradiculopathy. Despite IVIg and rituximab treatments, the patient’s disease course gradually worsened and he died of respiratory failure. Neuropathological examination revealed dorsal column- and dorsal root atrophy with mixed mononuclear cell infiltration. This article aims to draw attention to this syndrome, and the use of early potent immunosuppressive treatment to improve patients’ quality of life.

Clinical Neuroscience

JANUARY 30, 2020

[Current questions of multiple sclerosis: the secunder progressive form of the disease]

VÉCSEI László

[Recent data suggest that long-term worsening is common in relapsing-remitting multiple sclerosis patients and is largely independent of relapses or new lesion formation on brain MRI. The current definition of secunder progressive multiple sclerosis is worsening of disability independent of relapses over at least 6-month interval. Early focal inflammatory disease activity and spinal cord lesion are predictors of very-long term disease outcomes in relapse - onset multiple sclerosis. The potential of PET imaging to visualize hidden inflammation in MS brain in vivo is an important contribution for better understanding the progression of the disease. Therefore, PET imaging is a promising tool in detecting the conversion from relapsing remitting multiple sclerosis to secunder progressive form of multiple sclerosis. Furthermore, neuro-axonal damage is the pathological substrate of permanent disability in different neurological disorders including multiple sclerosis. The neurofilament proteins have promise in this context because their levels rise upon neuro-axonal damage not only in the cerebrospinal fluid but also in blood. Patients with increased serum levels of neurofilament at baseline, independent of other clinical and MRI variables, experience significantly more brain and spinal cord volume loss over 2 years and 5 years of follow-up. The kynurenine-pathway abnormalities may be associated with the swich from early-mild stage multiple sclerosis to debilitating progressive forms of the disease. Analysis of these metabolites in serum may have application as multiple sclerosis disease biomarkers. Free radical action has been suggested as a causal factor in the illness. Increased free radical production and consumption of the scavenger molecules were found during the active phase of the disease. Based on the clinical findings (EXPAND Study) and pathomechanism of the disease siponimod is approved by the US Food and Drug Administration for the treatment of relapsing remitting forms of multiple sclerosis, to include secunder progressive multiple sclerosis with active disease, relapsing-remitting multiple sclerosis and clinically isolated syndrome.]

Clinical Neuroscience

JANUARY 30, 2020

The effects of the level of spinal cord injury on life satisfaction and disability

GULSAH Karatas, NESLIHAN Metli, ELIF Yalcin, RAMAZAN Gündüz, FATIH Karatas, MÜFIT Akyuz

Introduction - Spinal Cord Injury (SCI) may often lead to significant disability in affected individuals and reduce life satisfaction. Herein we aimed to investigate the effects of the level of injury on disability and life satisfaction as well as the relation between life satisfaction and disability. Methods - Patients with at least one-year history of SCI were included. Demographic-clinical data of patients were recorded. The Craig Handicap Assessment and Reporting Technique-Short Form (CHART-SF) was used for quantifying the degree of patients’ disability. Life satisfaction was assessed by the Satisfaction with Life Scale (SWLS). Results - Of the 76 patients, 21 (27.6%) were tetraplegic and 55 (72.4%) were paraplegic. SWLS was found to be similar in tetraplegic vs. paraplegic patients (P=0.59), whereas CHART parameters such as physical independence, mobility, occupation, and total CHART value were significantly higher in paraplegic patients (P=0.04, P=0.04, P=0.001 and P=0.01, respectively). Social integration was found similarly high in both groups. There was a positive correlation between elapsed time after the injury and CHART physical independence, occupation and the level of economic sufficiency (P<0.01, P<0.01, P=0.01). Excluding the economic sufficiency (P=0.02), there was not any other association between the rest of CHART parameters and SWLS. Conclusions - According to our findings, although the level of injury seems to be influential on disability, it seems to have no significant effect on life satisfaction. Since the only thing that positively affects life satisfaction is economic sufficiency, more emphasis should be placed on regulations that increase the return to work in patients.

Clinical Neuroscience

SEPTEMBER 30, 2019

Coexistence of cervical vertebral scalloping, pedicle deficiencies and dural ectasia in type I neurofibromatosis

YALDIZ Mahizer

Neurofibromatosis type 1 (NF-1; also known as Von Recklinghausen’s disease) is a common autosomal dominant disease that occurs in the general population at the rate of 1 in 3000. Many NF-1 patients present with spinal malformations. A 54-year-old female patient was admitted to the Outpatient Clinic of Dermatology with gradually increasing swelling and spots on the body that had been present for a long period of time. Cervical vertebral scalloping, pedicle deficiencies and dural ectasia (DE) were also detected. She was diagnosed with NF-1. NF-1 is routinely seen in dermatology practice. Coexistence of NF-1 with vertebral scalloping, pedicle deficiencies and DE rarely occurs. Our case is the second reported instance in the literature of NF-1 with a spinal anomaly in the cervical region, and the first reported instance of the coexistence of NF-1 with cervical vertebral scalloping, pedicle deficiencies and DE.

Clinical Neuroscience

MAY 30, 2019

[In memoriam Mátyás Papp]

KOVÁCS Tibor

[Mátyás Papp died on 4th of April, 2019, at the age of 92, following a long disease. He was working for nearly 60 years in the Department of Neurology, Semmelweis University. He was known about his works on the inclusion bodies in multiple system atrophy (Papp-Lantos bodies). He was a honorary member of the International Society of Neuropathology. ]

Lege Artis Medicinae

MARCH 20, 2019

[Physiological-pathological muscle atrophy in elderly - interventions potencially inhibiting this progressive process ]

SZÉKÁCS Béla, MOLNÁR Andrea, BESENYEI Attila, MARTONY Zsuzsanna

[In old and very old age, one of the most prevalent signs of aged body’s decline is the progressive loss of muscle mass and function. First itself the physiological aging process can be dominant in the complex causative background but later it is usually intertwined with pathological mechanisms. The importance of muscle system is extremely high in the physiological regulation of various vital life processes The paper also points out the far-reaching consequences of sarcopenia syndrome that leads to general weakness, falls, traumas, acceleration of co-morbidities, rapidly declining self independence, ultimately frailty syndrome, and death. The initial body mass index has been recently replaced by a more adequate, more complex diagnostic approachment of sarcopenia that evaluates both muscle mass/strength and physical performance. Prevention or breaking the process of sarcopenia needs complex intervention which includes special fast protein rich diet with leucin and vitamin D combined with frequent physical exercise. ]

Clinical Neuroscience

MARCH 30, 2019

[Prognostic factors of surgically treated spinal meningeomas and long-term surgical outcomes ]

CZIGLÉCZKI Gábor, NÉMETH Fanni, BERÉNYI György, BANCZEROWSKI Péter

[Introduction, the aim of article - The spinal meningeomas are one of the most common types of spinal tumors. In the treatment of spinal meningeomas, the surgical removal is the gold standard method. There are many factors that have impacts on surgical outcomes such as age, preoperative neurological condition, the extent of resection and histological grade. The aim of our article is to analyze surgical experiences, prognostic features and long-term surgical outcomes of spinal meningeomas. Patients and methods - Retrospective database of surgically treated patients with spinal meningeomas between 2008 and 2016 was made in the National Institute of Clinical Neuroscience, Budapest, Hungary. Demographic data, preoperative neurological symptoms, radiological discrepancies, pathological results (histology, grade), types of treatments and postoperative results were examined. All of our patients were followed clinically and radiologically in the postoperative courses. Results - All of the 153 patients were surgically treated. We have examined 112 women and 41 men. The average age of the patients was 65.5 years. In 98.7% of the cases, the postoperative control examinations (postoperative 6th week) showed a significant improvement in sensorial and motorial functions. The neurological improvements were evident right after the surgeries. In 2 cases (1.30%), no changes were observed in the preoperative symptoms. Recurrence was noticed in 4 cases (2.61%). Conclusion - According to our results, the spinal meningeomas can be sufficiently treated with early diagnosis and total surgical removal. Most of the patients become asymptomatic and the rate of recurrence is quite low.]