Diffusion tensor tractography imaging in pediatric epilepsy - A systematic review.

PURPOSE: Recent years brought several experimental and clinical reports applying diffusion tensor tractography imaging (DTI) of the brain in epilepsy. This study was aimed to evaluate current evidence for adding the DTI sequence to the standard diagnostic magnetic resonance imaging (MRI) protocol in pediatric epilepsy. MATERIAL AND METHODS: Rapid and qualitative systematic review (RAE, Rapid Evidence Assessment), aggregating relevant studies from the recent 7 years. The PubMed database was hand searched for records containing terms "tractography AND epilepsy." Only studies referring to children were included; studies were rated using "final quality of evidence." RESULTS: Out of 144 screened records, relevant 101 were aggregated and reviewed. The synthesis was based on 73 studies. Case-control clinical studies were the majority of the material and comprised 43.8% of the material. Low 'confirmability' and low 'applicability' referred to 18 and 17 articles (29.5% and 27.9%), respectively. The sufficient quality of evidence supported performing DTI in temporal lobe epilepsy, malformations of cortical development and prior to a neurosurgery of epilepsy. CONCLUSIONS: The qualitative RAE provides an interim estimate of the clinical relevance of quickly developing diagnostic methods. Based on the critical appraisal of current knowledge, adding the DTI sequence to the standard MRI protocol may be clinically beneficial in selected patient groups with childhood temporal lobe epilepsy or as a part of planning for an epilepsy surgery.

[Magnetic resonance imaging in a patient with an implantable cardioverter-defibrillator]. / Badanie rezonansem magnetycznym przeprowadzone bez powiklan u chorego z wszczepionym kardiowerterem-defibrylatorem.

The number of patients with cardiac pacemakers (PM), implantable cardioverter-defibrillators (ICD) and cardiac resynchronisation therapy PM systems is increasing. The number of magnetic resonance imaging (MRI) examinations is also growing and amounts to about 60 million tests per year worldwide. The presence of an ICD is still considered to be an absolute contraindication to MRI by most experts. We present a patient with an implanted ICD who successfully underwent brain MRI with use of special precautions.

The impact of MRI white matter hyperintensities on dementia in Parkinson's disease in relation to the homocysteine level and other vascular risk factors.

BACKGROUND: The role of white matter hyperintensities (WMH) and homocysteine (Hcy) and other vascular risk factors in the pathogenesis of Parkinson's disease (PD) dementia (PDD) remains unclear. OBJECTIVE: The aim of the study was to assess the impact of WMH, Hcy and other biochemical and vascular risk factors on PDD. METHODS: A total of 192 patients with PD and 184 age- and sex-matched healthy controls were included. A semistructured interview was used to assess demographic and clinical variables with respect to vascular risk factors (arterial hypertension, diabetes mellitus, atrial fibrillation, ischemic heart disease, obliterative atherosclerosis, hypercholesterolemia, smoking, alcohol intake). Unified Parkinson's Disease Rating Scale score, Hoehn-Yahr staging and the Schwab-England activities of daily living scale were used to assess motor abilities and activities of daily living. A complex neuropsychological examination with a battery of tests was used to classify patients into a group with dementia (PDD) and a group without dementia (PD). Neuroradiological examination of MRI scans included visual rating scales for WMH (according to the Wahlund and Erkinjunntti rating scales) and the Scheltens scale for hippocampal atrophy. Blood samples for Hcy, folate, vitamin B12, fibrinogen, lipids, glucose, creatinine, transaminases and thyroid stimulating hormone (TSH) were examined. RESULTS: Among all patients, 57 (29.7%) fulfilled the diagnostic criteria for dementia. Significantly higher Hcy plasma levels were noted in PD and PDD groups compared to controls (p < 0.05) and in PDD when compared to PD (p < 0.05). According to multivariate regression analysis, WMH (Erkinjuntti scale), high Hcy, low vitamin B12 and folate plasma levels were independent risk factors for PDD. Vascular risk factors did not play any role in the pathogenesis of PDD and WMH. CONCLUSIONS: WMH along with Hcy, folate and vitamin B12 may impact cognition in PD. Therapy with vitamin B12, folate and catechol-O-methyltransferase inhibitors may play a potential protective role against PDD.

Multiple primary cranio-spinal tumours in a 13-year-old female with neurofibromatosis type 2 management strategy.

INTRODUCTION: Neurofibromatosis type 2 (NF2) is an inherited, rare autosomal dominant syndrome characterised by the development of multiple benign cranial and spinal tumours, peripheral neuropathy, ophthalmological and cutaneous lesions. Herein, we report one case of NF2 treated with multivariate chemotherapy. MATERIAL AND METHODS: A 13-year-old female presented with multiple cranio-spinal tumours in MRI. First symptoms were progressive changes in vision, left-sided paresis, unilateral sensorineural hearing loss, and left hypoglossal nerve paresis. The patient underwent palliative, partial surgical resection of the tumour which was located in a posterior fossa. Histopathological examination showed a psammomatous meningioma located near the great foramen and schwannomas of VIII nerve in the cerebello-pontine angle. Clinical and radiological examination revealed a rapid progression of the disease. As such, multivariate chemotherapy was used. The patient died 4 years after diagnosis. CONCLUSION: NF2 patients with multiple tumours at diagnosis may not be treatable with surgery alone and, as a result, presentation with such a disease in childhood results in poor prognosis. The unification of management strategies in NF2 patients is highly desirable.

Cerebral vasomotor reactivity and extent of white matter lesions in middle-aged men with arterial hypertension: a pilot study.

BACKGROUND: Cerebrovascular reactivity (CVR) impairment and cerebral white matter lesions (WMLs) are associated in elderly or patients with overt cerebral ischemia. Such association has not been confirmed for asymptomatic middle-aged individuals with risk factors for stroke. We assessed the relationship between the CVR and the presence of WMLs in a middle-aged population-based cohort of hypertensive men. METHODS: Magnetic resonance imaging (MRI) and transcranial Doppler (TCD) examination were performed in 54 hypertensive men, all at 60 years of age, without a history of stroke, neurologic deficits, or carotid stenosis. The CVR of the middle cerebral artery (MCA) was expressed as the vasomotor reactivity reserve (VMRr). RESULTS: WMLs were detected in 22 men (40.7%); all WMLs were classified as mild (first grade of the Fazekas modified scale). The VMRr was lower in patients with WMLs (mean 55%; s.e. 3%) compared to those without WMLs (mean 65%; s.e. 3%; P = 0.03). The lower VMRr in patients with WMLs was consistent after controlling for confounders. A higher pulsatility index (PI) in subjects with WMLs (mean 1.08; s.e. 0.05) compared to those without WMLs (mean 0.90; s.e. 0.05; P = 0.01) was not consistent after controlling for confounders. CONCLUSIONS: The CVR was lower in middle-aged hypertensive men with WMLs compared to those without WMLs indicating that even a low load of WMLs may reflect some functional impairment of the cerebral microvasculature.

[Therapeutic difficulties in soft tissue sarcoma occurring in children with neurofibromatosis type 1 - own observations]. / Trudnosci terapeutyczne w miesakach tkanek miekkich u dzieci z nerwiakowlókniakowatoscia typu i- obserwacje wlasne.

UNLABELLED: Neurofibromatosis type I (NF1) is one of the most common genetic disorders in man, predisposing to benign and malignant tumours. The most common malignancies comprise nervous system tumours, less frequently soft tissue sarcomas (STS) and leukaemia - myelodysplasia syndrome. Herein we report five cases of STS diagnosed in children affected with NF1 (3 girls and 2 boys, age: 8 months -17 years). Neurogenic tumours were diagnosed in three children (malignant peripheral nerve-sheath tumour in two and malignant triton tumour in one), while soft tissue sarcomas of rhabdomyosarcoma origin were found in two patients. In four cases the primary tumours were highly locally advanced, unresectable and located in pelvis minor. All patients received protocols for soft STS: CWS-91, 96 and 2002. The paper presents the clinical symptomatology, the course and outcome in children with NF1 affected with STS. CONCLUSION: basing on our own observations STS in NF1 seems to have poor prognosis in spite of combined therapy. Since early diagnosis is essential, children with NF1 should remain under the care of the oncologist.

The influence of vascular risk factors and white matter hyperintensities on the degree of cognitive impairment in Parkinson's disease.

BACKGROUND AND PURPOSE: Vascular risk factors may contribute to deterioration of cognitive functions in Alzheimer's disease and vascular (or mixed) dementia. Parkinson's disease (PD) is an age-related disorder and vascular risk factors potentially might be the main co-morbidity responsible for motor and cognitive impairment. However, only a few studies focused on this problem have been published. The aim of the study was to assess the contribution of vascular risk factors and white matter abnormalities in magnetic resonance imaging (MRI) on cognitive impairment in PD patients. MATERIAL AND METHODS: Sixty consecutive patients (M: 35, F: 25), mean age 68.36 years (SD: 7.25, range: 51-81) with diagnosis of idiopathic PD underwent a semi-structured questionnaire on demographics and vascular risks factors, neurological, neuropsychological and neuroimaging (MRI) examinations with quantitative assessment according to the scale by Wahlund et al. According to cognitive status they were divided into 3 groups: without cognitive disability (I, n=17), with mild cognitive impairment (II, n=25) and with dementia (III, n=18). RESULTS: There were no significant differences between groups in terms of the number of vascular risk factors (except for the ischaemic heart disease difference between group I and III) and severity of white matter hyperintensities in MRI studies. CONCLUSIONS: Vascular risk factors along with white matter vascular abnormalities probably do not contribute to cognitive impairment in patients with PD. This is in concordance with previously published studies.

[Neurofibromatosis type 1 in children. Experiences of the Gdansk Paediatric Oncohaematology Centre. Preliminary results]. / Nerwiakowlókniakowatosc typu 1 u dzieci. Obserwacje osrodka gdanskiego. Doniesienia wstepne.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a frequent genetic disorder of autosomal-dominant pattern. The incidence is about 1 per 3000 live births. Patients with NF1 are predisposed to malignancies including soft tissue sarcomas and leukaemias. The aim of the study was assessment of the most frequent symptoms on the basis of long term observation of children with NF1 and presentation of implemented diagnostic and therapeutic procedures. MATERIAL AND METHODS: In our department there are 149 children (71 boys and 78 girls) aged from 7 months to 18 yrs with diagnosed or suspected NF1. Each child is carefully followed up every 6 months on outpatient basis. Paediatric, neurological and opthalmological examinations are performed during the first visit and in cases of any new symptoms. Number of Lisch nodules, vision field, audiogram, dermatological evaluation of skin abnormalities as well as orthopaedic examination are also investigated. In any case of NF1 without neurological symptoms, MRI of the brain and spine is carried out every 2 years. Moreover, each child is consulted in the Genetic Clinic. RESULTS: Cafe-au-lait spots were observed in all 149 children, freckling of the armpits in 40, peripheral neurofibromas in 30, Lisch nodules in 2 patients. Secondary symptoms and complications such as mental retardation (9 cases) and epilepsy (10 cases), cognitive disorders and learning disabilities (21), abnormalities in MRI examination (53), benign or malignant CNS tumours (9), scoliosis (99) were diagnosed. In 5 patients malignant neoplasms occurred (3.4%) including: RMS--2 cases, Triton tumour--1 case, MPNST--1 case. Two children died of disease progression, one of treatment complications (sepsis) and two children are alive. CONCLUSIONS: 1. Patients with NF1 need regular specialist medical care. 2. Continuous education of the families with this disease is necessary. 3. Diagnostic and therapeutic procedures recommended for patients with NF1 need to be implemented at different levels of health care.

Regional cerebral blood flow in Parkinson's disease as an indicator of cognitive impairment.

OBJECTIVE: To investigate the pattern of regional cerebral blood flow (rCBF) deficits in Parkinson's disease patients in relation to cognitive decline and to assess the clinical usefulness of single photon emission tomography (SPET) scanning in differentiation between Parkinson's disease patients with dementia and those without cognitive deficits. METHODS: We performed Tc-ECD SPET in 60 patients with idiopathic Parkinson's disease (F: 25, M: 35), with average age of 68.4 years (SD+/-7.3, range 51-81 years). All patients were examined neurologically with the assessment of stage and severity of Parkinson's disease (Hoehn-Yahr scale, UPDRS, Schwab-England scale). Detailed neuropsychological examination was performed in each Parkinson's disease patient. On the basis of DSM-IV criteria of dementia and the results obtained in psychological examination, the whole group was divided into three subgroups: I, with no cognitive changes (n = 17); II, with mild cognitive impairment (n = 25); and III, with dementia (n = 18). RESULTS: There was noticeable significant decrease of perfusion in all areas in Parkinson's disease patients when compared to the age-matched control group of healthy volunteers (n = 20). In group III, perfusion was significantly decreased (when compared to groups I and II), particularly in parietal and temporal areas with the predominance of the left side. Regression analysis revealed two independent factors related to dementia: decrease of perfusion within left temporal lobe and its increase within left thalamus. CONCLUSION: Parkinson's disease patients with dementia showed left temporo-parietal hypoperfusion as compared to a group of patients without dementia, which resembles perfusion deficits described in Alzheimer's disease. The hypoperfusion of the left temporal lobe with increase of rCBF within the left thalamus might be clinically useful in discrimination of Parkinson's disease patients with dementia against those without cognitive impairment.

[The influence of vascular risk factors and white matter hyperintensities on the degree of motor impairment in Parkinson's disease]. / Wplyw naczyniowych czynników ryzyka i neuroradiologicznych zmian naczyniopochodnych w mózgu na nasilenie zaburzen ruchowych w chorobie Parkinsona.

BACKGROUND AND PURPOSE: The aim of the study was to assess the prevalence of vascular risk factors and white matter hyperintensities (WMH) in patients with Parkinson's disease (PD) and its impact on clinical features such as motor impairment. MATERIAL AND METHODS: 60 patients with PD [25 women and 35 men; mean age 68.4 (51-81) years, mean duration of disease 8.4 (1-27) years] with good response to L-Dopa were studied. Besides neurological examination, the degree of motor impairment was evaluated in all patients using UPDRS, Hoehn-Yahr, and Schwab-England scales. All patients underwent MRI to assess the degree of WMH using Age Related White Matter Changes (ARWMC) Wahlund scale. Moreover, the prevalence of classic vascular risk factors included arterial hypertension, diabetes mellitus t. 1 and 2; plasma cholesterol, cardiovascular diseases, alcohol abuse and smoking was assessed. RESULTS: Presence of at least one vascular risk factor was noted in 19 patients (31.7%). No significant differences were found between the groups of patients with and without vascular risk factors with regard to all clinical parameters and total ARWMC score. These factors did not differ between the groups of patients with more than 3 vascular risk factors and other patients. WMH (ARWMC > or =1) occurred in 33 patients (55%). No significant differences in all analysed clinical factors and the total number of vascular risk factors between the groups with (ARWMC > or =1) and without (ARWMC=0) WMH were found. The group of patients with at least one focus with score of 2 in the Wahlund scale did not differ significantly in all analysed clinical parameters from the rest of the patients. CONCLUSIONS: Our data suggest that the severity of WMH and incidence of vascular risk factors are not significantly related with the degree of motor disability in PD.

Camptocormia or Pisa syndrome in multiple system atrophy.

Although a mild stooped posture is a hallmark of parkinsonism, extreme trunk forward flexion is not common. This phenomenon was described in different etiological entities and called camptocormia. Other similar presentations called Pisa syndrome and antecollis were described mainly in extrapyramidal disorders. Authors present two cases of probable multiple system atrophy (MSA) with predominant parkinsonism and Pisa syndrome (or camptocormia). Both of them were previously misdiagnosed as idiopathic Parkinson's disease (PD) and one was reported 1 year earlier. The typical clinical presentation fulfilling the diagnostic criteria for multiple system atrophy, rapid progression with lack of responsiveness to L-DOPA and apomorphine and typical MRI putaminal pathology observed in both cases allowed us to make a diagnosis. Accuracy of clinical diagnosis in multiple system atrophy is still very poor. Therefore, unusual or rare clinical presentations may support the final diagnosis. The camptocormia, Pisa syndrome and antecollis may represent the continuum of the same motor phenomenon and most of the authors refer them to unusual form of axial dystonia. According to many clinical presentations on different forms of camptocormia/Pisa syndrome authors conclude that not etiology, but the localization of specific lesion, probably within putamen is responsible for that form of dystonia. In cases of parkinsonism and severe forward flexion of trunk multiple system atrophy, diagnosis should be considered.

Cerebral blood flow changes in patients with dementia with Lewy bodies (DLB). A study of 6 cases.

BACKGROUND: The aim of this study was to show the application of cerebral blood flow SPECT (rCBF SPECT) study in dementia with Lewy bodies (DLB). MATERIAL AND METHODS: (99m)Tc-ECD regional cerebral blood flow SPECT scanning was performed using a triple head, high resolution gamma camera on a group of six patients who ful- -filled criteria for clinical diagnosis of DLB. All patients were examined neurologically by a neurologist specialized in movement disorders. Detailed neuropsychological examination was performed on each patient with a psychological tests battery by an experienced neuropsychologist. Qualitative and quantitative analysis was performed utilizing an asymmetry index for unilateral perfusion deficits and a comparison to cerebellar perfusion to assess regional cerebral perfusion. A control group of 20 patients was studied to assess normal values, utilizing an asymmetry index for unilateral perfusion deficits, and a comparison to cerebellar perfusion was performed to assess regional cerebral perfusion. RESULTS: In four cases rCBF SPECT images showed patterns of bilateral hypoperfusion of the temporal, parietal and occipital lobes. In two other cases parietal deficits were observed. CONCLUSIONS: Functional neuroimaging with the use of CBF SPECT may contribute to clinical diagnosis of DLB.

[Solid tumours of the vertebral column and spinal cord in children. Reasons and consequences of diagnostic delay]. / Guzy lite kregoslupa i kanalu kregowego u dzieci. Przyczyny i konsekwencje opóznien rozpoznania.

INTRODUCTION: Primary or secondary tumours of spinal cord and vertebral column have various histological structure, various degree of malignancy and various growth dynamics. Such localisation of neoplastic disease creates problems, connected with the risk of irreversible damage of neurological functions. It is essential to make a proper diagnosis very early. AIM: An analysis of initial clinical symptoms and reasons for diagnostic delay in children with neoplasms of the vertebral column and spinal cord. This can facilitate and accelerate diagnostic and therapeutic process. MATERIAL AND METHODS: 20 children treated from 1994 to 2004 in Department of Paediatrics, Haematology, Oncology and Endocrinology in the Medical University of Gdansk, were investigated. Patients were divided into 2 groups. In group I, there were 11 children with neuroblastoma and peripheral primitive neuroectodermal tumour (PNET). The primary focus of the neoplasm was localised beyond the vertebral column with secondary infiltration of the spinal cord. Nine children were included in-group II, with primary focus in the spinal cord: glioma (2), ependymoma (1), meningioma (1) and localised in bones of the vertebra: osteosarcoma (2), chondrosarcoma (1), Ewing sarcoma (1) and those eosinophilic granuloma (1). Patients were admitted to hospital late. In group I, advanced stage of disease (III and IV) was found in 5, and stage IV in 6 children. In the early stage of the disease in-group II, pain and neurological symptoms were predominant. Duration of symptoms was longer than in-group I. It was from 6 weeks to 12 months. In both groups diagnostic delay was noted in 13 out of 20 patients. RESULTS: In spite of using obligatory treatment protocols diagnostic delay contributed to permanent neurological complications in 65% of patients.

[Regional cerebral blood flow single photon emission tomography (SPECT) and magnetic resonance imaging (MRI) may be useful in the diagnosis of patients with cortico-basal degeneration, progressive supranuclear palsy and multiple system atrophy]. / Badanie mózgowego przeplywu krwi metoda SPECT oraz badanie MRI moga byc uzyteczne w ustalaniu rozpoznania zwyrodnienia korowo--podstawnego, postepujacego porazenia ponadjadrowego i zaniku wieloukladowego.

Differential diagnosis of idiopathic Parkinson's Disease is still very difficult. Even in movement disorders centers 25% of patients with clinical diagnosis of Parkinson's disease is misdiagnosed with other neurodegenerative disorders. Clinical symptoms of so called atypical parkinsonian disorders may emerge late in the course of the disease, not at the same time and good or moderate response to levodopa at early stages may be a source of misdiagnosis. Most difficult to differentiate seems to be Progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and multiple system atrophy (MSA). Authors present in selected cases usefulness of neuroimaging with rCBF SPECT and MRI in clinical diagnosis of these disorders. For PSP typical (although not pathognomonic) is decrease of metabolism and flow in frontal lobes (hypofrontalism), and in CBD asymmetrical, contralateral to the side of dominating symptoms cerebral (frontal, parietal, temporal and within striatum) atrophy. In MSA more useful (but not seen in all cases) is MRI examination with hyperintensities in putamen, pons and cerebellum or cerebellar atrophy. Due to low sensitivity of clinical criteria other tests (EMG of anal sphincter or clonidine test) with specially neuroimaging examination may be helpful in establishing of the diagnosis.