Search results

Clinical Neuroscience

NOVEMBER 20, 2015

[Hyperglycaemic hemiballismus: implications from connectivity analysis for cognitive impairments]

KINCSES Tamás Zsigmond, VADÁSZ Dávid, NÉMETH Dezsõ, JANACSEK Karolina, SZABÓ Nikoletta, DÉZSI Lívia, BABOS Magor, VÖRÖS Erika, VÉCSEI László

[Hyperglycaemia induced movement disorders, such as hemiballism are rare disorders. The syndrome is characterised by the triad of hemiballism, contralateral T1-hyperintense striatal lesion and non-ketotic hyperglycaemia. Here we report a patient with untreated diabetes presenting with acute onset of hemiballism. MRI revealed T1 hyperintensity of the head of the caudate nucleus and the anterior putamen. The patient also had acantocytosis. Based on the detailed examination of the neuroradiological results and earlier findings we will imply on the pathomechanism. Based on previous findings microhemorrhages, extensive mineralisation, gemistocytic astrocytosis might play role in the development of the imaging signs. The connectivity pattern of the striatal lesion showed extensive connections to the frontal cortex. In coexistence with that the most severe impairment was found on the phonemic verbal fluency task measuring frontal executive functions. ]

Clinical Neuroscience

JANUARY 30, 2020

Myasthenia gravis, Guillain-Barré syndrome, or both?

ERDOGAN Cagdas, TEKIN Selma, ÜNLÜTÜRK Zeynep, GEDIK Korkut Derya

Myasthenia gravis (MG) and Guillain-Barré syndrome (GBS) are autoimmune disorders that may cause weakness in the extremities. The coexistence of MG and GBS in the same patient has rarely been reported previously. A 52-year-old male presenting with ptosis of the left eye that worsened with fatigue, especially toward evening, was evaluated in our outpatient department. His acetylcholine receptor antibody results were positive, supporting the diagnosis of MG. His medical history revealed a post-infectious acute onset of weakness in four extremities, difficulty in swallowing and respiratory failure, which was compatible with a myasthenic crisis; however, his nerve conduction studies and albuminocytologic dissociation at the time were compatible with GBS. With this case report, we aimed to mention this rare coincidental state, discuss possible diagnoses and review all other similar cases in the literature with their main features.

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

NOVEMBER 28, 2014

[The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation]

REMÉNYI Viktória, INCZÉDY-FARKAS Gabriella, GÁL Anikó, BEREZNAI Benjámin, PÁL Zsuzsanna, KARCAGI Veronika, MECHLER Ferenc, MOLNÁR Mária Judit

[Background - Mutations of both the PMP22 and EGR2 genes cause Charcot-Marie-Tooth (CMT) disease type 1. Deletion of the PMP22 gene, results in hereditary neuropathy with liability to pressure palsies. More publications exist about the interaction of PMP22 duplication and other CMTcausing gene mutations. In these cases the intrafamiliar discordant phenotypes draw the attention to the possible role of modifying genes. The gene-gene interactions between the PMP22 and EGR2 genes are not well understood. Case report - We report two brothers with late onset CMT1 due to a c. 1142 G>A (Arg381His) heterozygous substitution in the EGR2 gene. Additionally, the older brother with the less severe symptoms harbored the PMP22 gene deletion also. Conclusion - The coexistence of the two genetic alterations did not aggravate the clinical symptoms. Moreover, the PMP22 deletion appeared to have a beneficial modifying effect, thus implying potential gene-gene interaction of PMP22 and EGR2. PMP22 deletion may increase Schwann cells proliferation and compensate the dominant-negative effect of the Arg381His substitution in the EGR2 gene.]

Clinical Neuroscience

SEPTEMBER 30, 2012

[Multiple sclerosis coexisting with spinal cord ependymoma: a case report]

EYLEM Degirmenci

[Background - In this paper, we report a coexistence of multiple sclerosis and an intradural spinal cord tumor. Case report - A 34-year-old woman who had a history of relapsing-remitting multiple sclerosis for the last 15-years presented with acute sensory loss and spasticity in her left lower limb and her spinal magnetic resonance imaging study revealed an intradural spinal cord tumor in the lumbar spine, further diagnosed as ependymoma. Conclusion - We call attention to this rare association of MS and a spinal cord tumor, emphasizing the need for investigation of new symptoms during the evolution of MS.]

Clinical Neuroscience

NOVEMBER 30, 2011

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

MAGDALENA Dziadzio, HORTOBÁGYI Tibor, DESMOND Kidd, RONNIE Chee

[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.]

Hypertension and nephrology

SEPTEMBER 20, 2011

[Coexistence of diabetes mellitus and (nephrogenic) diabetes insipidus]

RADÓ János

[In this report we describe a patient with nephrogenic diabetes insipidus associated with diabetes mellitus. The 44-year-old patient was seen by us for the first time when she was 5 years old in 1972, as a member of a family with nephrogenic diabetes insipidus associated with other congenital renal diseases. Surveying five generations by family history we found in four genarations (supported with investigations in three genarations) five patients suffering from the combination of renal tubular acidosis, polycystic kidney disease and nephrogenic diabetes insipidus. Nephrogenic diabetes insipidus was confirmed with blood and urine osmolality measurements performed during water deprivation as well as during administration of synthetic vasopressins. Renal tubular acidosis was confirmed with blood and urine gas analysis and bicarbonate and acid loadings. Polycystic kidney disease was diagnosed with physical findings, imaging and in the case of a deceased patient by necropsy. The autosomal dominant trait was obvious in the family characteristic to the distal renal tubular acidosis and polycystic kidney disease. The clinical picture was dominated by the polydipsia and polyuria. Significant interindividual differences were found in vazopressin resistance responsible for the nephrogenic diabetes insipidus. In our patient metabolic syndrome (diabetes mellitus, hypertension, obesity, abnormal lipid and uric acid levels) and disturbances in calcium metabolism (nephrolithiasis and osteomalacia) were associated with renal disorders. The 39 year long observation period (with some discontinuations) the patient was treated almost without pauses with bicarbonate, desmopressin, thiazide, NSAIDs supplemented with the administration of vitamin D3, antidiabetics etc. Despite of the listed and other diseases the patient’s mood is quite good, her physical condition is relatively satisfactory while she is working regularly physically.]

Lege Artis Medicinae

OCTOBER 20, 2010

[Concomitant occurrence of multiple myeloma and diffuse large B-cell lymphoma]

RADVÁNYI Mónika, ILLÉS Árpád, MÉHES Gábor, KAJTÁR Béla, FAZAKAS Ferenc, GARAI Ildikó, GERGELY Lajos

[We report a case of a 50-year-old male patient, in whom the coexistence of multiple myeloma and diffuse large B cell lymphoma was confirmed. In December 2007, the patient was admitted to the department of internal medicine with fatigue resulting from mild anemia. A tumor of the left testis was discovered, and after semicastration diffuse large B cell lymphoma was diagnosed by histopathological analysis (clinical stage: II/EB). Examination of the bone marrow revealed a plasmocytic infiltrate of 60%, while 36.1 g/l IgG-kappa paraprotein was found in the peripheric blood, fulfilling the diagnostic criteria of multiple myeloma (Durie-Salmon stage: I). The patient received six cycles of rituximab- CHOP-21 chemotherapy for diffuse large B cell lymphoma. Following a transient improvement, the multiple myeloma showed progression, therefore we switched to VTD protocol (bortezomib, thalidomid, dexamethason). The patient underwent high dose chemotherapy and autologous hematopoietic stem cell transplantation. Both hematologic diseases showed complete remission. Both tumour samples were tested for immunoglobulin heavy-chain rearrangement by polymerase chain reaction and DNA sequence analysis, according to which the possibility for clonal relationship between multiple myeloma and diffuse large B cell lymphoma could not be confirmed.]

Clinical Neuroscience

MARCH 20, 2007

[ASSOCIATION OF APOLIPOPROTEIN E POLYMORPHISM WITH AGE-RELATED MACULAR DEGENERATION AND ALZHEIMER’S DISEASE IN SOUTH-WESTERN HUNGARY]

KOVÁCS Á. Katalin, PÁMER Zsuzsanna, KOVÁCS Attila, FEKETE Sándor, MISETA Attila, KOVÁCS Bálint, KOVÁCS L. Gábor

[Background - Age-related macular degeneration (AMD) and Alzheimer dementia (AD) show similarities (advanced age, formation of deposits of similar content). Recently apolipoprotein E 2 (apoE 2) has been associated with AMD, while apoE4 with AD. The question of coexistence, especially with respect to the genetic background has not been studied earlier. We investigated, therefore, the occurrence of AMD in AD patients and compared their lipid profile and apoE polymorphism. Methods - 49 AMD, 32 AD and 27 control patients were examined (risk factors, visual acuity, slit lamp biomicroscopy, fundoscopy). Following measurement of triglyceride, total and HDL cholesterol levels, apoE mutation analysis was performed. Results - AMD was found in 8% of the cooperating AD patients. The prevalence of the apoE 4 isoforms in the AMD, AD and the control patients was 2%, 47% and 22%, while that of apoE 2 was 17%, 6% and 7%, respectively. The prevalence of apoE 3 isoform was 82%, 41% and 71%, respectively. Triglyceride, total and HDL cholesterol were in the reference range; however, AD patients were characterized by a lower total cholesterol value. Conclusions - The new finding of this publication is the rare occurrence of AMD among AD patients. The higher frequency of apoE 4 among the AD population, and the higher frequency of apoE 2 among AMD patients in the South-Western region of Hungary confirms the findings of other investigators.]

Clinical Neuroscience

AUGUST 20, 2003

[Positron emission tomography in presurgical localization of epileptic foci]

JUHÁSZ Csaba

[The success of cortical resection for intractable epilepsy of neocortical origin is highly dependent on the accurate presurgical delineation of the regions responsible for generating seizures. In addition to EEG and structural imaging studies, functional neuroimaging such as positron emission tomography (PET) can assist lateralization and localization of epileptogenic cortical areas. In the presented studies, objectively delineated focal PET abnormalities have been analyzed in patients (mostly children) with intractable epilepsy, using two different tracers: 2-deoxy-2-[18F]fluoro-D-glucose (FDG), that measures regional brain glucose metabolism, and [11C]flumazenil (FMZ), that binds to GABAA receptors. The PET abnormalities were correlated with scalp and intracranial EEG findings, structural brain abnormalities, as well as surgical outcome data. In patients with extratemporal foci and no lesion on MRI, FMZ PET was more sensitive than FDG PET for identification of the seizure onset zone defined by intracranial EEG monitoring. In contrast, seizures commonly originated from the border of hypometabolic cortex detected by FDG PET suggesting that such areas are most likely epileptogenic, and should be addressed if subdural EEG is applied to delineate epileptic cortex. In patients with cortical lesions, perilesional cortex with decreased FMZ binding was significantly smaller than corresponding areas of glucose hypometabolism, and correlated well with spiking cortex. Extent of perilesional hypometabolism, on the other hand, showed a correlation with the life-time number of seizures suggesting a seizurerelated progression of brain dysfunction. FMZ PET proved to be also very sensitive for detection of dual pathology (coexistence of an epileptogenic cortical lesion and hippocampal sclerosis). This has a major clinical importance since resection of both the cortical lesion and the atrophic hippocampus is required to achieve optimal surgical results. Finally, the author demonstrated that in patients with neocortical epilepsy, FDG PET abnormalities correctly regionalize the epileptogenic area, but their size is not related to the extent of epileptogenic tissue to be removed. In contrast, complete resection of cortex with decreased FMZ binding predicts good surgical outcome suggesting that application of FMZ PET can improve surgical results in selected patients with intractable epilepsy of neocortical origin.]