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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myoclonus, seizures and progressive dementia are the main clinical features in Lafora's disease. This is the first reported case in which the diagnosis has been made by axillary skin biopsy in a patient with myoclonus but no other neurological symptoms.
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PMID:Diagnosis by axilla skin biopsy in an early case of Lafora's disease. 827 Sep 46

This is a report of an autopsied case of dentatorubropallidoluysian atrophy (DRPLA) with atypical neuropathological findings. The patients was a 31-year-old female. Her clinical symptoms were epileptic seizures, cerebellar ataxia, choreoathetosis and dementia. A neuropathological examination revealed the fibrillary gliosis in various areas of the CNS and severe degeneration in the cerebellar cortex and nucleus fasciculi dorsalis in addition to a marked degeneration of the dentatorubropallidoluysian systems. The present case is diagnosed neuropathologically as DRPLA associated with the findings of chronic diphenylhydantoin intoxication and epileptic brain damage.
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PMID:An autopsied case of dentatorubropallidoluysian atrophy with atypical pathological features. 148 57

Involvement of the central nervous system (CNS) is common in patients with advanced disease due to human immunodeficiency virus (HIV). Symptoms range from lethargy and apathy to coma, incoordination and ataxia to hemiparesis, loss of memory to severe dementia, and focal to major motor seizures. Involvement may be closely associated with HIV infection per se, as in the AIDS dementia complex, but is frequently caused by opportunistic pathogens such as Toxoplasma gondii and Cryptococcus neoformans or malignancies such as primary lymphoma of the CNS. The clinical presentations of attendant and direct CNS involvement are remarkably non-specific and overlapping, yet a correct diagnosis is critical to successful intervention. Toxoplasmic encephalitis is one of the most common and most treatable causes of AIDS-associated pathology of the CNS. A great deal has been learned in the last 10 years about its unique presentation in the HIV-infected patient with advanced disease. Drs. Benjamin J. Luft of the State University of New York at Stony Brook and Jack S. Remington of the Stanford University School of Medicine and Palo Alto Medical Foundation's Research Institute have studied T. gondii for many years and are two of the leading experts in the field. This commentary comprises an update of their initial review (J Infect Dis 1988;157:1-6) and a presentation of the current approaches to diagnosing and managing toxoplasmic encephalitis in HIV-infected patients.
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PMID:Toxoplasmic encephalitis in AIDS. 152 Jul 57

Prenatal screening can already detect some late onset diseases such as Huntington's Disease and eventually will detect even more such diseases. Aborting a fetus with minor or moderately serious genetic indications which become apparent in later life poses serious moral concerns. Women who have undergone prenatal screening tend to base decisions about aborting a fetus on severity of the genetic defect, the probability of its occurrence, and the age of onset of the condition. Parents would rather not bring suffering into the world. Yet even humans born in good health do not escape suffering. Society is moving toward a preference for infants who, at the physical level, are perfect, but does not consider other levels of human existence. Almost everyone considers selective abortion of a fetus with a grave defect which would manifest early and cause a life of severe suffering is acceptable. Yet some people with varying degrees of suffering lead very creative and rewarding lives, e.g., the talented Russian writer, Fyodor Dostoyevsky, had a seizure disorder. He experienced a high feeling of bliss prior to a seizure. Another example is the famous artist, Toulouse-Lautrec, who was born with a normal body but, due to 2 accidents which broke his legs, his legs did not develop and he suffered greatly. Huntington's Disease, a severe disease lasting about 10 years and involving personality changes, jerky movements, paranoia, dementia, inability to think cognitively, and eventual death, shows up between the ages of 30-50. The 1st 30-50 years of life have the potential to be fulfilling. Besides normal people can also suffer and experience dementia in old age. Parents may not even live long enough to see the suffering and certainly are not as burdened as parents of children with early onset diseases. Thus abortion for Huntington's Disease is almost unjustifiable.
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PMID:Huntington's disease: prenatal screening for late onset disease. 833 37

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
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PMID:Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 153 98

Magnetic resonance spectroscopy (MRS) is a flexible tool with real clinical utility. Examples from our experience in over 250 cases of clinical proton MRS are presented. Shorter echo time and reproducible water suppression increases the number of metabolites which can be detected and identified. Case reports illustrate the significance of altered ratios of N-acetylaspartate, choline, total creatine, myo-inositol, glutamate, glutamine, lactate, glucose, ketones, and, as an incidental finding, ethanol. Significant new information has resulted by applying proton MRS in chronic hepatic encephalopathy, diabetes mellitus and severe hypoxic encephalopathy ('near-drowning'). Potentially useful measurements have been made in normal brain maturation, ethanol related diseases, dementia (normal-pressure hydrocephalus), urea cycle defect and neuronal disease presenting as seizures. Metabolite imaging, particularly with proton, is clinically valuable, documenting the heterogeneity of biochemical disorders in seemingly focal lesions. A new method of specific 31-phosphorus--phosphocreatine imaging provides information in partially denervated skeletal muscle and is expected to have applications in brain.
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PMID:Clinical tools for the 90s: magnetic resonance spectroscopy and metabolite imaging. 156 13

Platelet microparticles (PMPs) are vesicles derived from platelet membranes that are too small (less than 0.5 micron) to be detected in routine platelet counting. They arise in association with platelet activation and other unknown causes. Elevated PMPs have been observed in idiopathic thrombocytopenic purpura (ITP), a disorder in which autoantibody interacts with platelets and the opsonized platelets are destroyed by macrophages. However, the clinical significance of PMP has been unknown. Using flow cytometry, we examined PMP concentrations in 62 patients with ITP and in 33 normal control subjects to assess the clinical significance of PMP in ITP. When compared with PMP levels in control subjects, PMP levels were significantly higher (p less than 0.005) in patients with ITP, but considerable variation among individual patients was observed. Patients with platelet counts less than or equal to 60,000 were evaluated for correlation of PMP levels with manifestations of thrombocytopenias; patients without symptoms (free of petechiae or mucosal bleeding) are found to have significantly higher PMP levels (p less than 0.05) than patients with symptoms, suggesting hemostatic protection by PMP. Additionally, we identified a group of patients with ITP who experienced neurologic complications resembling transient cerebral ischemic attacks (TIAs): recurrent episodes of dizzy spells or weakness in mild cases, and coma, seizure, or progressive dementia in advanced cases. Small cerebral infarcts were demonstrated by computed axial tomography scan or magnetic resonance imaging in spite of severe thrombocytopenias. Patients with this syndrome are often found to have higher PMP levels (p less than 0.005) when compared with the group free of neurologic complications. It is concluded that PMPs play an important role in hemostasis in patients with thrombocytopenia, and that high concentrations of hemostatically active PMP can be thrombogenic in certain clinical settings. Quantitation and characterization of PMP is important in assessment and management of patients with thrombocytopenia.
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PMID:Clinical significance of platelet microparticles in autoimmune thrombocytopenias. 158 78

A 46 year old woman had a relapsing-remitting course of hemiparesis, disorientation, paraparesis and seizures, followed by progressive dementia, spasticity and ataxia. Computed tomography at onset showed a parietotemporal hypodense area with diffuse mottled enhancement obliterating the lateral ventricle. Subsequent scans demonstrated symmetric periventricular non-enhancing hypodensities, progressive ventricular enlargement and atrophy. Adult metachromatic leukodystrophy was diagnosed on the basis of low leukocyte arylsulphatase A level and metachromatic material accumulation at neural nerve biopsy.
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PMID:Adult metachromatic leukodystrophy with an unusual relapsing-remitting course. 158 77

All inpatients aged greater than 55 years with dementia in the Dundee Psychiatric Service were surveyed for seizure occurrence by interviewing staff and reviewing records. Of 208 patients, 19 (9.1%) were recorded as having seizures. The seizures were major in 92% and occurred at a rate of approximately 2.3 seizures per patient per year. Patients with epilepsy were significantly younger than a control group of dementia inpatients and were significantly more cognitively impaired on the survey Clifton Assessment Procedure for the Elderly (CAPE), but not on the Mini Mental State Examination. Of 111 reported accidents, only 5 appeared to be associated with epilepsy. Although epileptic seizures are relatively common in patients with severe dementia, they rarely caused severe problems.
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PMID:Epileptic seizures in elderly patients with dementia. 162 80

In a 53-year old male suffering from paretic neurosyphilis, SPECT-investigations were performed before and after treatment with high doses of Penicillin G. The patient was admitted for disturbances of speech and concentration, memory disorder and tonic-clonic seizures. Mental examination showed a mild dysphoria and irritability in mood, but no disturbance of orientation, no euphoria or expansive delusions, and no paranoia. Mini-Mental-State examination was within the normal range (28 points); no abnormalities were found on neurologic examination, and CT and MRI investigations showed normal findings. The diagnosis was verified by CSF-examination (pleocytosis, elevated protein, positive Lues reactions). SPECT investigation with Tc 99m HMPAO (20 mCi, single-head rotating camera) revealed a pronounced bilateral parieto-temporal uptake deficiency as observed in patients with dementia of Alzheimer's type. After 18 months the clinical symptoms had remitted, and laboratory findings were improved. On the other hand, the bilateral parieto-temporal uptake deficiency in SPECT remained unchanged. Possible causes of these findings are discussed in relation to neuropathologic findings. It can be concluded that bilateral parieto-temporal uptake deficiency in SPECT is a nonspecific finding and that there is no correlation between clinical improvement and SPECT pattern in paretic neurosyphilis.
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PMID:[Lack of specificity of single photon emission computerized tomography in dementia--results of a case of progressive paralysis]. 163 20


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