IgG4-related (IgG4-RD) disease is a relatively newly identified, chronic autoimmune disorder that can affect any organ system. The disease is relatively rare. It has mostly systemic presentation, however it can also appear in isolated form in one single organ. In our report, we demonstrate an elderly male patient’s case with IgG4-RD presented in the form of diffuse meningeal inflammation and hypertrophic pachymeningitis with one-sided cranial nerve and intraventricular involvement.
Objective – Stroke-like lesions (SLLs) are pathognomonic for mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome but occur in other mitochondrial and non-mitochondrial disorders as well. This mini-review aims at summarising and discussing recent findings to open up future perspectives how to manage this fleeting phenomenon.
Results – Typically, SLLs are dynamic lesions, which increase in size and intensity to regress after a nadir. SLLs are incongruent with a vascular territory, originate frequently from the cortex to spread subcortically, can be monofocal or multifocal, run through an acute (attack) and chronic (remission) stage, and may either completely disappear or end up as laminar cortical necrosis, white matter lesion, subcortical atrophy, cyst, or the toenail sign. On cerebral CT, SLLs are hypodense. SLLs can be best visualized on multimodal MRI showing up as hyperintensity on T2, FLAIR, DWI, and PWI, and as hypointensity on OEF-MRI. On MR-spectroscopy, SLLs typically present with a decreased N-acetyl-aspartate peak and an increased lactate peak. DTI in acute SLLs reveals reduced connectivity, increased global efficiency, and reduced focal efficiency. Tc-HMPAO SPECT of SLLs indicates hyperperfusion and L-iomazenil SPECT reduced tracer uptake. FDG-PET typically shows hypometabolism within a SLL.
Conclusion – SLLs present with typical findings on various imaging modalities but the combination of cerebral CT, multimodal MRI, MRS, and PET clearly delineate a SLL from other acute or chronic cerebral lesions.
Autosomal dominant cerebellar ataxias (ADCA), also known as spinocerebellar ataxias (SCA) are a group of progressive neurodegenerative diseases with remarkable clinical and genetic heterogeneity. In the last ten years 20 genes were identified in the background of SCAs. One of these genes was STUB1 (STIP1 homology and U-box containing protein 1) (chromosome 16p13, NM_005861.4) encoding a multifunctional E3 ubiquitine ligase (CHIP)1. In 2013, STUB1 was identified as a causative gene of autosomal recessive spinocerebellar ataxia 16 (SCAR16), but in 2018 Genis et al. published that heterozygous mutations of this gene can cause the autosomal dominantly inherited SCA48 as well1,2. 28 French, twelve Italian, three Belgian, two North-American, one Spanish, one Turkish, one Dutch, one German and one British SCA48 families have been reported so far2-9. Based on these publications, SCA48 is a late-onset, progressive disorder characterized by cerebellar dysfunction, cognitive impairment, psychiatric features, dysphagia, hyperreflexia, urinary tract symptoms and movement disorders including Parkinsonism, chorea, dystonia and rarely tremor. The brain MRI in all SCA48 patients demonstrated vermian and hemispheric cerebellar atrophy which was more pronounced in the posterior areas (lobules VI and VII) of the cerebellum in most of the cases2-9. Besides this, T2- weighted imaging (T2WI) hyperintensity of dentate nuclei (DN) was reported in some Italian patients10. Moreover, the most recent publication described alterations on DAT-scan imaging in some French families9. Neurophysiological examinations did not find any central or peripheral nervous system abnormalities2,3,5. Neuropathologic findings revealed definite cerebellar atrophy and cortical shrinkage with variable severity6,7. The histopathological assessment denoted Purkinje cell loss, p62-positive neuronal intranuclear inclusions in some cases and tau pathology in one patient6-7. In this paper we describe the clinical and genetic characterization of the first Hungarian SCA48 case with a novel heterozygous STUB1 gene missense mutation.
Background and purpose:
Haematopoietic stem cell transplantation (HSCT) is one of the most effective treatment methods for many malignant and non-malignant diseases. In this study, we aimed to detect electroencephalographic (EEG) anomalies at an early stage in patients who underwent allogeneic and autologous HSCT and required the management of potentially life-threatening non-convulsive seizures.
.Methods:
The study was conducted with 53 patients. The age, gender, HSCT type (allogeneic or autologous), and treatment regimens applied before and after HSCT were recorded. All patients underwent EEG monitoring twice, once on the first day of hospitalization and again one week after conditioning regimens began and HSCT was performed.
.Results:
When the pre-transplant EEG findings were examined, 34 (64.2%) patients had normal EEGs and 19 (35.8%) had abnormal EEGs. After transplantation, 27 (50.9%) had normal EEG findings, 16 (30.2%) had a basic activity disorder, 6 (11.3%) had a focal anomaly, and 4 (7.5%) had a generalised anomaly. In the allogeneic group, the anomaly rate in post-transplant EEGs was significantly higher than that in the autologous group (p<0.05).
.Conclusion:
It is important to consider the likelihood of epileptic seizures in the clinical follow-up of HSCT patients. EEG monitoring is crucial for the early diagnosis and treatment of such non-convulsive clinical manifestations.
.Trigeminal neuralgia is a severe neuropathic disorder, affecting the distribution area of the trigeminal nerve and often impairs the quality of life of patients. More and more scholars agree that one of the pathogenesis of trigeminal neuralgia is due to the demyelinating lesion caused by vascular compression or arachnoid bundle wrapping on the root exit zone of trigeminal nerve. In this regard, the most effective method is microvascular decompression, which can relieve the compression of the offending vessels and the thickened arachnoid on the trigeminal nerve. However, it still has some disadvantages, such as the possibility of fatal complications. In recent years, with the advancement of neurosurgical treatment technology, new progress has been made in microvascular decompression. This article mainly introduces the surgical techniques and new methods of the microvascular decompression.
Background and purpose: Reading is a part of the language processes; a strong interaction can be found between them so the damage of the one has a strong impact on the other. It is worth to put emphasis on the exploration of reading disorders which occur with aphasia to have a better outcome of the rehabilitation process. The aim of our study is to explore the main characteristics of aqcuired reading disorders to have a more specialized and individualized language therapy.
Methods: 19 ischemic stroke patients with aphasia took part in our study. All participants were right-handed with a lesion of left arteria cerebri media infarct. Due to the Hungarian version of Western Aphasia Battery 10 mild and 9 moderate participated. Reading abilities were investigated with our reading battery which consisted four main tasks: grapheme-phoneme correspondence, reading words, lexical access and reading comprehension. Tobii X120 device was used for recording and analyzing patients' eye-movements.
Results: Significant positive correlations were found between the four subscales of Western Aphasia Battery and some part of the reading tasks. Eye-movements were analyzed, especially fixation count and total fixation duration. The severity of language disorder had a strong impact on fixation count and fixation duration. The more serious the language disorder was the more eye movements were detected.
Conclusion: Our data support the idea that the severity of aphasia had a strong impact on reading processes and eye-movements. Eye-tracking device can help to have a deeper insight in the background brain mechanisms during reading. Our results contribute to have a more accurate diagnostic process to have a more specialized language therapy with better outcome.
Background and purpose: Peripheral nerve blockade techniques have been developed for both acute and prophylactic treatment of migraine. Our aim was to compare pain parameters between the groups of patients who only had greater occipital nerve blockade (GON), and those who also had blockade to the supraorbital nerve (SON) and infraorbital nerve (ION) together with greater occipital nerve blockade, in order to reduce pain more effectively in migraine patients.
Methods: 50 patients diagnosed with migraine were included in our study. 22 patients underwent only bilateral GON blockade (GONB), and 28 patients underwent bila-teral GON blockade and bilateral SON and ION blocka-des (MCNB). In both groups, the number of headache days and visual analog scale scores of the patients were noted in the first month before the injection, in the first, second and third months after the injections (injections were applied to patients 3 times with one-month intervals).
Results: While the number of headache days before injection was 9.6 days/month in the GONB group and 9.3 days/month in the MCNB group, it was 6.2 days/month and 5.2 days/month after the first injection, 5.3 days/month and 3.8 days/month after the second injection, and 3.9 days/month and 2.8 days/month after the third injection, respectively (p < 0.01). While the visual analog scale scores of both groups were 8.1 before injection, it decreased to 5.9 and 6.0, respectively, after the third injection.
Conclusion: There was no significant difference in the reduction of pain parameters between only GON blockade and SON and ION blockades in addition to GON blockade.
Background and purpose: Multifocal motor neuropathy (MMN) is a rare, immune-mediated illness attacking ex-clusively motor nerves. It is known that oxidative stress is present in peripheral neuropathies, but it has not been investigated MMN.
Methods: We measured in our prospective study the L-arginine, symmetric and asymmetric dimethylarginine (SDMA, ADMA) serum concentrations of 10 patients and 10 controls before and after intravenous immunoglobulin treatment (IVIG), as markers of the L-arginine/NO pathway involved in chronic inflammation and oxidative stress. The functions of motor nerves were tested in all patients and the serum antiganglioside antibody levels were de-tec-ted, as well.
Results: MMN patients showed significantly higher ADMA (p = 0.0048; 0.98 and 0.63, respectively) and SDMA le-vels (p = 0.001; 0.88 and 0.51, respectively) than healthy controls, while L-arginine was not different. Controlling for the covariant age, ADMA (B = -0.474; p = 0.041) or SDMA (B = -0.896; p < 0.0005) serum levels proved to be the significant predictors of the presence of MMN. IVIG therapy decreased significantly ADMA concentrations (p = 0.025; 0.98 and 0.84, respectively) and showed a trend to reduce SDMA levels (p = 0.1; 0.88 and 0.74, respectively). The dimethylamine levels did not correlate with the number of affected nerves, disease duration, or the presence of ganglioside antibodies. The conduction block-related peripheral motor dysfunction improved right after the IVIG treatment.
Conclusion: Dimethylamine levels are elevated in the serum and are responsive to IVIG therapy in MMN. These findings support the presence of oxidative stress in MMN.
We herein present the exceptional case of a patient, who injured a sciatic nerve due to avulsion of proximal hamstring tendon in a motorcycle accident. The 63-year-old man was diagnosed firstly with an incomplete fracture of distal femur. A foot drop on the right side was observed when the full-length cast was removed two months later. The patient was referred to the neurology clinic and was diagnosed with a sciatic nerve lesion at the proximal level of the biceps femoris. Magnetic resonance imaging of the thigh showed a proximal avulsion of hamstring muscles tendon. The patient did not improve by short-term physiotherapy and neurosurgical intervention. Sciatic nerve injury can be a result of proximal hamstring avulsion in events such as motorcycle accidents even in the absence of complete or major femur fracture.
In advanced Parkinson's disease, oral medication can often no longer achieve sufficient therapeutic success. As one of the device aided therapies, the intrajejunal levo-dopa administration has been established as valuable treatment option. A modern form of the well-known intestinal levodopa pump offers the opportunity to continue the oral triple combination of levodopa, carbidopa and entacapone that many patients already use. Since February 2021 this modern option is available in Austria and Germany which also contains entacapone, whereby levo-dopa can be saved. In many other countries, including Hungary, approval is expected in the near future. The pump and cartridge are significantly smaller and lighter than in the LCIG pump which should improve the accep-tance of the therapy. The higher acceptance of the smaller pump and the improved user-friendliness has already been reported in an observational study from Sweden. The unwanted effects of entacapone have to be considered.
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