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Neurologic Abnormalities (neurologic + abnormality)

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Medical Sciences	100%

Selected Abstracts

Symptomatic Epilepsies Imitating Idiopathic Generalized Epilepsies

EPILEPSIA, Issue 2005
Hirokazu Oguni
Summary:, The diagnosis of idiopathic generalized epilepsies (IGEs) is not generally difficult if one follows the clinical and electroencephalogram (EEG) definitions of each subsyndrome that constitutes IGEs. In contrast, symptomatic epilepsies develop based on organic brain lesions and are easily diagnosed by the presence of developmental delay, neurologic abnormalities, and a characteristic seizure and EEG pattern. However, in clinical practice, it is sometimes difficult to differentiate IGEs from symptomatic epilepsies, especially when the clinical course from the onset of epilepsy is too short to exhibit typical clinical and EEG findings of either epilepsy type, or when patients with symptomatic epilepsies have atypical features that imitate the clinical characteristics of IGEs. The neurodegenerative or metabolic disorders at times start during the clinical course with epileptic seizures and later show typical neurologic abnormalities. The newly recognized metabolic disorder of glucose transporter type 1 deficiency syndrome (Glut-1 DS) may start with myoclonic seizures at an age of less than 1 year and imitate benign myoclonic epilepsy in infancy early in the clinical course. Progressive myoclonus epilepsies (PMEs) that develop at 1,4 years of age at times imitate epilepsy with myoclonic-astatic seizures with respect to the presence of astatic seizures and an epileptic encephalopathic EEG pattern. In addition, young children with focal cortical dysplasia may also have similar clinical and EEG patterns, although the latter may become localized after treatment. Approximately 15% of patients with juvenile myoclonic epilepsy (JME) are resistant to antiepileptic drugs (AEDs) and may require extensive study to make a differential diagnosis from symptomatic epilepsies. PMEs that develop during adolescence may imitate JME early in the clinical course; however, a detailed history and the differentiation between myoclonic seizures and myoclonus would help to distinguish both conditions. The diagnosis of IGEs is very demanding for patients with atypical features with regard to seizure type, EEG findings, and response to appropriate AEDs. [source]

Lower urinary tract dysfunctions in patients with spinal cord tumors

NEUROUROLOGY AND URODYNAMICS, Issue 1 2004
Tomoyuki Uchiyama
Abstract Aims The objective of this study was to elucidate the incidence and pathophysiology of lower urinary tract dysfunctions (LUTS) in patients with spinal cord tumors. Methods Urinary questionnaire and urodynamic studies were done in 76 patients with spinal cord tumors. Results The patients included 56 with cervical-thoracic (C1 to T11) and 20 with lumbosacral tumors. The lumbosacral tumors consisted of 12 epiconus/conus medullaris (below T11) and 8 cauda equina tumors. These tumors were further subdivided into intramedullary, intradural extramedullary, and dumbbell-type. More than 83% of the patients had urinary symptoms. Patients with cervical-thoracic tumors commonly had voiding symptoms (75%). Detrusor hyperreflexia (39%), and detrusor areflexia on voiding (21%) were the main urodynamic features. Patients with epiconus/conus medullaris tumors commonly had voiding symptoms as well (58%), but decreased urge to void (50%), detrusor-sphincter dyssynergia (42%), and detrusor areflexia on voiding (32%) were the main features. Patients with cauda equina tumors commonly had storage symptoms (88%), of which sensory urgency was most common (63%). Severe LUTS occurred in the epiconus/conus medullaris tumors and in the intramedullary tumors. These dysfunctions tended to appear late and rarely appeared as the initial symptom in the course of the disease. There was no significant relationship between neurologic abnormalities and LUTS. Urodynamics showed that spinal cord tumors cause a variety of LUTS, depending on the location and the type of the tumor. Conclusion Spinal cord tumors are commonly accompanied by LUTS. Clinical and urodynamic evaluation is crucial to diagnosis and management since there is little relationship between symptoms and findings. Neurourol. Urodynam. 23:68,75, 2004. © 2003 Wiley-Liss, Inc. [source]

Evaluation and management of pulmonary disease in ataxia-telangiectasia

PEDIATRIC PULMONOLOGY, Issue 9 2010
Sharon A. McGrath-Morrow MD
Abstract Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A-T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A-T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well-studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A-T are also outlined. Pediatr. Pulmonol. 2010; 45:847,859. © 2010 Wiley-Liss, Inc. [source]

Neurologic signs and symptoms in fibromyalgia

ARTHRITIS & RHEUMATISM, Issue 9 2009
Nathaniel F. Watson
Objective To determine the type and frequency of neurologic signs and symptoms in individuals with fibromyalgia (FM). Methods Persons with FM (n = 166) and pain-free controls (n = 66) underwent systematic neurologic examination by a neurologist blinded to disease status. Neurologic symptoms lasting at least 3 months were assessed with a standard questionnaire. We used logistic regression to evaluate the association of neurologic symptoms and examination findings with FM status. Within the FM group we examined the correlation between self-reported symptoms and physical examination findings. Results Age- and sex-adjusted estimates revealed that compared with the control group, the FM group had significantly more neurologic abnormalities in multiple categories, including greater dysfunction in cranial nerves IX and X (42% versus 8%) and more sensory (65% versus 25%), motor (33% versus 3%), and gait (28% versus 7%) abnormalities. Similarly, the FM group had significantly more neurologic symptoms than the control group in 27 of 29 categories, with the greatest differences observed for photophobia (70% versus 6%), poor balance (63% versus 4%), and weakness (58% versus 2%) and tingling (54% versus 4%) in the arms or legs. Poor balance or coordination, tingling or weakness in the arms or legs, and numbness in any part of the body correlated with appropriate neurologic examination findings in the FM group. Conclusion This blinded, controlled study demonstrated neurologic physical examination findings in persons with FM. The FM group had more neurologic symptoms than did the controls, with moderate correlation between symptoms and signs. These findings have implications for the medical evaluation of patients with FM. [source]

Reliability and validity of the Childhood Cancer Survivor Study Neurocognitive Questionnaire

CANCER, Issue 8 2008
Kevin R. Krull PhD
Abstract BACKGROUND. Up to 40% of childhood cancer survivors may experience neurocognitive impairment in 1 or more specific domains. As such, regular monitoring has been recommended for patients exposed to cranial irradiation and/or antimetabolite chemotherapy. This study reports the results of a questionnaire developed to identify those survivors who may be experiencing neurocognitive problems. METHODS. Participants for this study were 7121 members of the Childhood Cancer Survivor Study cohort (6739 survivors and 382 siblings). These participants completed a new neurocognitive questionnaire designed to assess functions commonly affected by cancer therapy, as well as a standard measure of emotional functioning. A measure of cognitive and emotional functioning was also completed on a subset of the patients roughly 7 years before the current questionnaire. Responses to the questionnaires among subgroups of survivors were then analyzed to examine the reliability and validity of the new neurocognitive questionnaire. RESULTS. Four reliable factors were identified that assessed task efficiency, emotional regulation, organization, and memory skills. These neurocognitive factors accurately discriminated survivors who were at "high risk" for neurocognitive dysfunction, because of neurologic abnormalities or a history of intensive focal cranial irradiation, from healthy "low-risk" survivors and siblings. CONCLUSIONS. The questionnaire demonstrated excellent reliability, as well as construct and discriminative validity. It appears to be a practical and efficient tool for monitoring neurocognitive outcomes in adult survivors of pediatric cancer. Cancer 2008. © 2008 American Cancer Society. [source]