Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is still unknown. A case of a 12-year-old boy with Parry-Romberg syndrome and syringomyelia suffering from severe headache attacks and epileptic seizures is reported herein. Headache attacks were associated with bilateral autonomic symptoms and hyperventilation and were usually followed by complex partial and sometimes by secondary generalized tonic seizures. Detailed neuroimaging examinations were performed (magnetic resonance imaging [MRI] of the head, orbits, and spinal cord, MR angiography, and MR spectroscopy of the cerebellum). The EEG pattern revealed localized discharges contralaterally to the affected side. Antiepileptic treatment with carbamazepine was instituted with minimal effect. Modification of treatment (replacement with oxcarbazepine) was successful. In the reported patient interesting correlation of headache attacks, autonomic symptoms and epileptic seizures was observed. Additionally we believe it is the first report of coincident syringomyelia and Parry-Romberg syndrome.
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PMID:Diagnostic difficulties of paroxysmal symptoms in a boy with Parry-Romberg syndrome. 2062 66

Pathological high-frequency electrographic activity (pHFA, >80Hz) represents one of the major discoveries in epilepsy research over the past few decades. In this review we focus on the high-frequency activity recorded in vivo in chronic models of epilepsy. The presence of HFA particularly of fast ripples (250-600Hz)reflects epileptogenic reorganization of brain tissue, endogenous epileptogenicity and ability to generate spontaneous seizures. The spatial distribution of epileptic HFA can be used to localize epileptic foci. In some regions of brain the localizing value of epileptic HFA is weakened by frequency overlap with physiological HFA. In this situation, only detailed knowledge of the regional physiological activity may provide relevant information which frequencies provide localizing information. In the epileptic hippocampus, the activity from 250Hz to 600Hz frequency band (fast ripples) is always epileptic and can be used as reliable marker of epileptic tissue in all hippocampal subregions. The localizing value of HFA in the identification of the epileptic focus is discussed from an experimental and clinical perspective; as the information provided by HFA can improve presurgical diagnosis and surgical outcome. Finally, research into HFA has contributed to improved understanding and new insights into the cellular and network organization of epileptic foci and the pathophysiology of epilepsy.
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PMID:High-frequency activity in experimental and clinical epileptic foci. 2202 89

Localized scleroderma is a rare disease, characterized by sclerotic lesions. A variety of presentations have been described, with different clinical characteristics and specific prognosis. In scleroderma en coup de sabre (LScs) the atrophic lesion in frontoparietal area is the disease hallmark. Skin and subcutaneous are the mainly affected tissues, but case reports of muscle, cartilage, and bone involvement are frequent. These cases pose a difficult differential diagnosis with Parry-Romberg syndrome. Once considered an exclusive cutaneous disorder, the neurologic involvement present in LScs has been described in several case reports. Seizures are most frequently observed, but focal neurologic deficits, movement disorders, trigeminal neuralgia, and mimics of hemiplegic migraines have been reported. Computed tomography and magnetic resonance imaging have aided the characterization of central nervous system lesions, and cerebral angiograms have pointed to vasculitis as a part of disease pathogenesis. In this paper we describe the clinical and radiologic aspects of neurologic involvement in LScs.
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PMID:Neurologic involvement in scleroderma en coup de sabre. 2231 46

En coup de sabre (ECDS) and Parry-Romberg syndrome (PRS) are variants of linear morphea on the head and neck that can be associated with neurologic manifestations. Intracranial abnormalities on computed tomography (CT) and magnetic resonance imaging (MRI) are present in a significant proportion of individuals with these conditions. We describe 32 children from our institution with ECDS or PRS; neuroimaging was performed in 21 cases. We also review 51 additional cases from the literature. Nineteen percent of the children at our institution with ECDS or PRS had intracranial abnormalities on MRI, half of whom were asymptomatic. Hyperintensities on T2-weighted sequences were the most common finding, present in all children with intracranial abnormalities on MRI. Seizures (13%) and headaches (9%) were the most common neurologic symptom. Neurologic symptoms were not correlated with neuroimaging abnormalities, with two asymptomatic children having marked MRI findings and only two of nine symptomatic children having an abnormal MRI. Similarly the severity of the superficial disease did not predict neurologic involvement; a child with subtle skin involvement had striking MRI findings and seizures, whereas another with a bony defect had no brain parenchymal involvement. Neurologic symptoms and neuroimaging abnormalities are found in a surprisingly substantial percentage of children with ECDS and PRS. Early recognition of neurologic involvement is necessary because it affects treatment choices. Because clinical predictors of intracranial abnormalities are poor, strong consideration should be given to obtaining an MRI before treatment initiation to assist in management decisions and establish a baseline examination.
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PMID:A significant proportion of children with morphea en coup de sabre and Parry-Romberg syndrome have neuroimaging findings. 2310 74

Progressive facial atrophy or Parry-Romberg syndrome is characterized by slowly progressive facial atrophy involving skin, subcutaneous tissue, cartilage and bony structures. Apart from facial atrophy, it can be associated with diverse clinical manifestations including headache, partial seizures, trigeminal neuralgia, cerebral hemiatrophy and ocular abnormalities. The exact etiology is unknown although sympathetic system dysfunction, autoimmune disorders, focal scleroderma, trauma and genetic factors have been postulated. We hereby report a patient having marked left-sided facial atrophy and wasting of the tongue. Such an extensive wasting is not previously reported in the literature.
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PMID:A case of extensive left-sided facial atrophy of Romberg. 2416 57

[Purpose] The objective of this study was to determine the effects of virtual reality-based balance training on balance of the elderly. [Methods] The subjects were 32 healthy elderly people aged between 65 and 80, who were divided into a VR (virtual reality) training group (n=17) and a control group (n=15). The VR training group engaged in a 30-minute exercise session using Wii Fit three times a week for eight weeks, while the control group received no intervention. The balance of the two groups was measured before and after the intervention. [Results] According to the Romberg Test conducted to examine the effects of the training on balance, both the area covered by the body's center of pressure movement, and movement distances per unit area of the body's center of pressure envelope significantly decreased in the VR training group. Moreover, the two groups showed significant differences in balance. [Conclusion] Virtual reality training is effective at improving the balance of the healthy elderly. Thus, virtual reality training can be proposed as a form of fall prevention exercise for the elderly.
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PMID:The Effects of Virtual Reality-based Balance Training on Balance of the Elderly. 2476 45

Parry-Romberg syndrome (PRS) is a variant of morphea usually characterized by a slowly progressive course. Clinical and radiological involvement of the central nervous system may be observed in PRS. We describe 2 patients with PRS and neurological symptoms (one with trigeminal neuralgia associated with deafness, and the second with hemifacial pain associated with migraine without aura) in conjunction with abnormal cerebral MRI including white matter T2 hyperintensities and enhancement with gadolinium. Despite the absence of specific immunosuppressive treatments, both patients have presented stable imaging during follow-up without any clinical neurologic progression. We have performed a large review of the medical literature on patients with PRS and neurological involvement (total of 129 patients). Central nervous system involvement is frequent among PRS patients and is inconsistently associated with clinical abnormalities. These various neurological manifestations include seizures, headaches, movement disorders, neuropsychological symptoms, and focal symptoms. Cerebral MRI may reveal frequent abnormalities, which can be bilateral or more often homolateral to the skin lesions, localized or so widespread so as to involve the whole hemisphere: T2 hyperintensities, mostly in the subcortical white matter, gadolinium enhancement, brain atrophy, and calcifications. These radiological lesions do not usually progress over time. Steroids or immunosuppressive treatments are controversial since it remains unclear to what extent they are beneficial and there is often no neurological progression.
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PMID:Neurological Manifestations in Parry-Romberg Syndrome: 2 Case Reports. 2618 54

Neurologic involvement is well recognized in Systemic Scleroderma and increasingly reported in Localized Scleroderma. MRI brain abnormalities are often associated with symptoms such as seizures or headaches. In some cases they may be clinically silent. We describe a 23 years old female with head, trunk and limbs scleroderma who developed Parry-Romberg Syndrome. Brain MRI showed ipsilateral temporal lobe atrophy without any prominent neurologic symptoms. Neuropsychological examination revealed Mild Cognitive Impairment. During the 7 years of follow up we have noticed progression of face atrophy but no progression of brain atrophy. Cognitive functions have been stable. This case highlight that major MRI brain abnormalities in LS may occur with only subtle clinical manifestation such as Mild Cognitive Impairment.
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PMID:Mild Cognitive Impairment as a single sign of brain hemiatrophy in patient with Localized Scleroderma and Parry-Romberg Syndrome. 2715 52

We describe a case of Parry Romberg syndrome/en coupe de sabre in a woman whose disease started as seizures at age 8 but was diagnosed at the age 39. During these 31 years she got married, completed a first degree at university, had two successful pregnancies and has been gainfully employed. The features of generalized tonic-clonic seizures, autoimmune abnormalities, ocular abnormalities, morphea en coup de sabre and brain imaging abnormalities were present. Areas of parietal lobe cerebral calcification were encountered on the computed tomographic scan and bilateral periventricular white matter changes on the magnetic resonance imaging with frontal, temporal and parietal lobe brain atrophy ipsilateral to the facial hemiatrophy. Clinical, immunologic and neuroradiological abnormalities are discussed. In some cases, this illness can run a benign and stable course.
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PMID:The Chronic Encephalopathy of Parry Romberg Syndrome and En Coupe De Sabre with a 31-Year-History in a West Indian Woman: Clinical, Immunologic and Neuroimaging Abnormalities. 2776 Dec 27

Parry-Romberg syndrome is a rare disorder characterized by a progressive facial hemiatrophy of the skin, subcutaneous tissue, musculature, bone, and cartilage. It is often associated with neurological symptoms such as trigeminal neuropathy, paresthesia of the face, migraine, and seizures and can be paired with ocular problems and ipsilateral progressive body atrophy. Here, we present a young woman with progressive facial hemiatrophy, who was referred for FDG-PET/CT. Hypometabolism was observed in the left cingulate and postcentral gyrus, left cerebellum, and right basal ganglia. Hypometabolism may be observed before anatomical changes and therefore facilitate early diagnosis.
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PMID:Brain Glucose Metabolism in Parry-Romberg Syndrome. 2816 52


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