Clinical Neuroscience

[Common variable immunodeficiency with coexisting central nervous system sarcoidosis. Case report and literature review with implications for diagnosis and pathogenesis]


NOVEMBER 30, 2011

Clinical Neuroscience - 2011;64(11-12)

[We describe a patient with a history of longstanding primary generalised epilepsy, on anticonvulsant therapy, who presented with fever, headache, worsening seizures and hallucinations. Among various investigations, the patient had high CSF protein and ACE levels, leptomeningeal nodular enhancement on MRI brain and non-caseating granulomas in the brain and meninges on the biopsy. The patient was diagnosed with neurosarcoidosis. Subsequently, he was found to be panhypogammaglobulinaemic and was diagnosed with probable common variable immunodeficiency (CVID). The coexistence of common variable immunodeficiency and neurosarcoidosis is rare. Typically, non-caseating granulomas in CVID patients are localised in the lymphatic tissue and solid organs. To our knowledge, there are only five reports of the granulomas of the central nervous system (CNS) in CVID. We discuss the diagnostic difficulties in this case and review the literature.]



Further articles in this publication

Clinical Neuroscience

[Theoretical and practical considerations of rational polytherapy in epilepsy]


[Author analyses the consideration of rational polytherapy for epilepsy. Among the theoretical aspects he points the different effect of seizure inhibitory drugs on the epilepsy models but didn’t find data enough for the basis of any successful combination. Combinations of compounds having different way of action are more promising. Rational polytherapy can serve also the epileptic patients’ tailored therapy in the daily routine. There have already been some proved synergisms concerning drug interactions. Based on detailed analysis of side effects a possibility occurs for neutralization of side effects when anticonvulsants with side effects of opposite nature are combined. Considering both the side effect profiles and the different (somatic and psychic) habits of the patients we can create a special list of favourable combinations. Co-morbid states and their treatments play a significant role in the application of rational polytherapy. Combination of anticonvulsants of lower potential but without drug-interactions can be the choice in these cases. The non-epileptic indications of the anticonvulsants can also be utilized in polymorbid patients. Based on the theoretical and practical considerations the author defines the ten-step-cognitive-preparation-process in planning the optimal (poly)therapy. On speculative basis he suggests eight beneficial versions of seizure inhibitory rational polytherapy.]

Clinical Neuroscience

[The carrier model of neurology in Hungary: a proposal for the solution until 2020]

BERECZKI Dániel, CSIBA László, KOMOLY Sámuel, VÉCSEI László, AJTAY András

[Based on our previous survey on the capacities of neurological services and on the predictable changes in the neurologist workforce in Hungary, we present a proposal for the organization of the structure of neurological services in the future. We discuss the diagnostic groups treated by neurologists, the neurological services and their progressive organization. Using the current capacities as baseline, we propose patient groups to be treated by neurologists in the future, and the levels of services. Based on the tendencies seen in the last years we suggest to consider to allocate acute stroke services exclusively to stroke units in neurological departments, and we identify a few other diagnostic groups where neurology should have a larger share in patient care. We define three levels for inpatient care: university departments, regional/county hospitals, city hospitals. Instead of minimum criteria we assign outpatient and inpatient standards that are functional from the economic point of view as well. University departments cover all areas of neurological services, have a function in graduate and postgraduate training, and on a regional basis they participate in professional quality assurance activities at the county and city hospital levels, and would have a more independent role in residency training. As far as patient care is concerned, the task of the regional/county hospitals would be similar to that of university departments - without the exclusively university functions. A general neurological service would be offered at the city hospital level - the representation of all subspecialties of neurology is not required. Neurorehabilitation would be organized at special units of neurological wards at the city hospital level, at independent neurorehabilitation wards in regional/county hospitals, and also as an outpatient service offered at the patients’ home. The most significant organizational change would affect the outpatient neurological services. In addition to the special outpatient units associated with university departments and regional/county hospitals, the general neurological outpatient services would be organized as private practices, similarly to the current system of general practitioners, where the individual practices contract independently with the health insurance fund. Their task would be a general neurological service offered 30 hours per week, and also basic, screening neurophysiological and neurosonological examinations, with proper equipment and trained assistance. A transformation in residency training and a change in financing is needed for this plan to fulfill.]

Clinical Neuroscience

[Vascular or “lower body parkinsonism”. Rise and fall of one diagnosis]


[The “arteriosclerotic parkinsonism”, which is called vascular parkinsonism (VP), was first described by Critchley1. The broad based slow gait, reduced stride lenght, start hesitation, freezing and paratonia was mentioned as “lower body parkinsonism” (LBP) which can be associated by slow speech, dysexecutive syndrome, and hand tremor of predominantly postural character. In VP the DAT-scan proved normal dopamine content of the striatum in contrast with Parkinson’s disease (PD). Additionally, Lewy bodies of brainstem type were not found in VP. Probability of VP increases if central type pathologic gait is prominent; the hands are slightly involved, the MRI indicates transparent periventricular white substance and/or brain atrophy. In some cases differentiation of gait apraxia and parkinsonism could be challenging. There is no rigor of the lower limbs at rest in neither of them, the disturbance of movement is evoked by the gait itself. Three subtypes of “gait ignition failure” has been recently described: (1) ignition apraxia, (2) equilibrium apraxia and (3) mixed gait apraxia. The primary progressive freesing gait was considered as a Parkinson-plus syndrome. Freesing occurs more frequently in diseases with pakinsonism than in PD. The grade of ventricle dilatation and the frontal leukoaraiosis was similar in LBP and gait apraxia. In cases of normal pressure hydrocephalus the impaired gait may mimic PD. Pathologic gait in VP can be explained by the lesions of the senso-motor association pathways in dorsal paramedian white substance within the vulnerable borderzone region. These may be colocalized with the representation of the lower extremities in the posterior third of the supplementer motor area. Rektor2 proposed to change the name of LBP to “cerebrovascular gait disorder”. Notwithstandig central type gait disorder develops also in many degenerative diseases other than cerebro-vascular origin. The neuronal net controling the regulation of movement is widespread, therefore several cortical and subcortical lesions could elicit large variations of pathologic gait, ie.: ataxia, apraxia, ignition failure, akinesis etc. In conclusion: most of the central gait disorders regarding the pathology and their appearance can not be called “parkinsonism”; these are much closer related to the localization of lesions rather than to the diagnostic categories.]

Clinical Neuroscience

[Subarachnoid hemorrhage in Hungary. Analysis based on the reports of the hospitals to the National Health Insurance Fund in 2009]

KOZÁK Norbert, SZABÓ Sándor, AJTAY András, BERECZKI Dániel

[Background and purpose - We analyzed the statistical characteristics of subarachnoid hemorrhage (SAH) in Hungary in 2009. Methods - Using data supplied by the hospitals about their inpatient services to the National Health Insurance Fund with ICD-10 code I60. Results - 1403 SAH hospital cases were recorded in 1028 patients. That is much more than we expected from previous data. 63.6% were women, hospital case fatality was 12.2%. The average hospital stay was 6.47 days. 763 CT examinations were done (74.2% of the patients). Hypertension was recorded in 61.3% of the patients. The incidence was increasing with age till the age group of 51- 60 years, and decreased beyond that. In 531 patients the source of bleeding could be verified. Aneurysm of the anterior communicating artery was more frequent in men, aneurysm of the middle cerebral artery (MCA) and internal carotid artery in women. In total MCA aneurysm was the most frequent. Arteriovenous malformation was present in 7.6% of the patients. SAH was most frequent in January and February, rarest in April and August. Conclusion - SAH is more frequent in Hungary than previously thought.]

Clinical Neuroscience

[A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome]

VASTAGH Ildikó, GÁL Anikó, REMÉNYI Viktória, SEMJÉN Judit, LUKÁCS Tímea

[We report an unusual case of juvenile ischaemic stroke syndrome associated with the A8344G mutation in tRNALys gene of mitochondrial DNA. The clinical phenotype of patient was typical for MELAS (mitochondrial ecephalomyopathy with lactate acidosis and stroke like episodes). The MELAS has been related to mutation A3243G in most cases, but some other mitochondrial DNA mutations were described in the background of this syndrome as well. A 22-years-old man and his family were investigated. Throughout clinical investigation as well as Doppler sonography, neuroradiological, and immunserological examinations were performed. Molecular studies included the analysis of the Leiden, prothrombin G20210A and the most common mitochondrial DNA mutations. The DNA analysis of the proband revealed a heteroplasmic A8344G substitution in the T-loop of the tRNALys gene. The mutation could not been detected in her mother blood. We can conclude that A8344G mutation of the mitochondrial DNA resulted in juvenile ischemic stroke, which is associated only rarely to this genetic alteration. In young age onset of a stroke-like episode with undetermined etiology the mtDNA alterations always have to be excluded.]

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Clinical Neuroscience



[Two cases of uncommon manifestation of central nervous system sarcoidosis are reported. A 42 year-old man had a spinal cord sarcoidosis. MRI of the spinal cord showed myelopathy in the cervico-thoracic region, and the T2-weighted image showed increasing signal intensity. Neurological symptoms did not correllate with radiological abnormalities. Neurological manifestation was paucisymptomatic. Half a year later steroid and azatioprin therapy led to almost complet radiological and clinical regression. In the second case we present a 49 year-old woman who had left side internuclear ophthalmoplegia and the brainstem lesion. The patient was proven to have sarcoidosis. In this case no abnormalities were found in brain MRI. Neurological symptoms could not be detected by MRI, probably caused by brainstem parenchymal lesions consisting of microgranulomatosis that is sarcoid "brainstem encephalitis". Neurological symptoms improved after steroid treatment in this case too. In both of the cases pulmonary lymphadenopathy helped to diagnose sarcoidosis. In our cases there were interesting correllations between neurological symptoms and MRI abnormalities. At the spinal cord sarcoidosis the radiological abnormalities were more striking than the clinical manifestation. In the other case we found distinct brainstem symptoms but could not detect MRI abnormalities.]

Lege Artis Medicinae

[The possibilities and practice of immunoglobulin replacement in adults with antibody deficiency]

KRIVÁN Gergely

[Primary antibody deficiencies can occur at any age, but in a significant number of patients the correct diagnosis has not been established yet and thus their treatment has not been initiated. In patients with primary antibody deficiency, lifelong immunoglobulin replacement therapy has no alternatives. Immunoglobulin replacement therapy applied at adequate doses can prevent infections and provide a good quality of life for patients. In addition to intravenous preparations that have been used for decades, new preparations for subcutaneous administration are available now in Hungary as well. Subcutaneous preparations have fewer systemic side effects, can be used at home and, with weekly infusions, can provide more constant IgG levels, which can be beneficial in preventing infections.]

Hypertension and nephrology

[About the care of patients with hyperuricaemia and gout]

[This consensus document is intended to provide guidance for the effective and efficient treatment of asymptomatic individuals with high uric acid levels and gout patients.]