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

A 17 days old male infant, who had features of Down Syndrome, presented with fever, refusal to feed and seizures. He had papular, crusted skin lesions, moderate hepatosplenomegaly and a rapid downhill course. Peripheral blood and bone marrow aspirate showed features of acute leukaemia. Congenital Leukaemia is a rare malignancy associated with a very poor prognosis. Paradoxically, many cases of Congenital Leukaemia, especially in infants with Down Syndrome, show spontaneous remission.
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PMID:Congenital leukaemia in Down Syndrome--a case report. 1278 86

Non-Asian individuals with Down syndrome are much more likely to develop epileptic seizure disorders than individuals without Down syndrome. Examination of nutrient and metabolite levels in patients with these two seemingly disparate disorders reveals numerous similarities. Compared to individuals without these disorders, individuals with Down syndrome and individuals with seizures may have lower levels of vitamin A, vitamin B1, folate, vitamin B12, vitamin C, magnesium, manganese, selenium, zinc, carnitine, carnosine, choline, and possibly serine. Excesses of copper, cysteine, phenylalanine, and superoxide dismutase are also sometimes encountered in both disorders. In addition to common nutritional lower levels and excesses, disorders of metabolism involving vitamin B6, vitamin D, calcium, and tryptophan may play a common role. This paper hypothesizes that nutritional factors may account for the high joint occurrence of these conditions. Further examination of these data may provide insights into nutritional, metabolic and pharmacological treatments for both conditions.
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PMID:Down syndrome and epilepsy: a nutritional connection? 1472 2

People with developmental disability, mental retardation, or intellectual disability are living longer and becoming prone to age-related health problems and diseases of old age much like the general population. This worldwide trend is also seen in Israel, where today 39.8% of persons with intellectual disability in residential care are 40 years old and above. There is a need for service and staff providers to receive training; a need for more research and better service for this aging population. This review presents health concerns for older persons with different levels of intellectual disability, health concerns in persons with Down syndrome, and persons with epileptic seizures and cerebral palsy in relation to general practice and family medicine. The review is concluded with recommendations on health and aging in adults with intellectual disabilities and the call for formalized training in the topic for specialists in family medicine.
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PMID:Health needs of adults with intellectual disability relevant for the family physician. 1524 99

While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more effectively. We investigated the correlation between specific chromosome aberrations and epilepsy by sending questionnaires to the members of Kyoto Multi-institutional Study Group of Pediatric Neurology. Seventy-six patients were collected from 10 institutions. Chromosome abnormalities included: Down syndrome (n = 19); Angelman syndrome (n = 8); Prader-Willi syndrome (n = 4); 4p- syndrome (n = 3); 1q- syndrome (n = 2); 5p- syndrome (n = 2); Miller-Dieker syndrome (n = 2); 18q- syndrome; (n = 2); Klinefelter syndrome; (n = 2); and 32 other individual chromosomal aberrations. Overall, the severity of mental retardation correlated with the severity of epilepsy. We could abstract characteristic features of epilepsy in some syndromes. In Angelman and Prader-Willi syndromes, febrile seizures occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple. Paroxysmal discharge of the occipital region and diffuse high voltage slow wave on electroencephalography were characteristic in Angelman syndrome. In Down syndrome, West syndrome and focal epilepsy were common and the prognosis of epilepsy in West syndrome with Down syndrome was good. In 4p- syndrome, febrile seizures were often seen, and unilateral or generalized clonic or tonic-clonic status epilepticus were characteristic. For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy.
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PMID:Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. 1566 53

Epilepsy is among the most frequent finding in many chromosome aberrations. While most chromosome aberrations can be associated with different seizure types, there are few aberrations which feature specific seizures and EEG patterns. Among the 400 different chromosomal imbalances described with seizures and EEG abnormalities, eight have a high association with epilepsy. These comprise: the monosomy 1p36, Wolf-Hirschhorn syndrome (4p-), Angelman syndrome, Miller-Dieker del 17p13.3, the inversion duplication 15 syndrome, ring 20 and ring 14 syndromes, Down's syndrome. These chromosomal regions where aberrations have an evident association with epilepsy may be useful targets for gene hunters. On the other hand, a better characterisation of epileptic syndrome in these disorders may lead to a better and specific treatment.
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PMID:[Epilepsy in chromosome aberrations]. 1580 38

Neuropathologically, Alzheimer-type abnormalities are demonstrated in patients with Down syndrome (DS), both demented and nondemented and more than a half of patients with DS above 50 years develop Alzheimer's disease (AD). The apolipoprotein E epsilon4 allele, oestrogen deficiency, high levels of Abeta1-42 peptide, elevated expression of BACE2, and valine polymorphism of prion protein gene are associated with earlier onset of dementia in DS individuals. Advanced AD alone may be an important risk factor for new-onset seizures in older adults and age above 60 years is a recognized risk factor for poor outcome from convulsive and nonconvulsive status epilepticus. DS patients aged over 45 years are significantly more likely to develop Alzheimer's disease than those less than 45 years and up to 84% demented individuals with DS develop seizures. Late-onset epilepsy in DS is associated with AD, while early-onset epilepsy is associated with an absence of dementia. In AD patients with a younger age of dementia onset are particularly susceptible to seizures. DS adults with epilepsy score significantly higher overall on the adaptive behaviour profile. Language function declined significantly more rapidly in AD patients with seizures and there is a good correlation between the severity of EEG abnormalities and cognitive impairment whereas in DS slowing of the dominant occipital rhythm is related to AD and the frequency of the dominant occipital activity decreases at the onset of cognitive deterioration.
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PMID:Down syndrome, Alzheimer's disease and seizures. 1586 85

Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 +/- 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.
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PMID:Secondary tics and tourettism. 1596 46

Children with an autism spectrum disorder (ASD) often are evaluated with electroencephalogram (EEG) studies to assess their risk for seizures or other underlying abnormalities. Their risk is estimated at 7% - 42%. EEG studies were conducted on a subgroup of children while following established practice parameters for evaluating children for ASD. Abnormal EEG results were obtained in 85 (27%) of the 316 children evaluatedfor ASD. Within the subset of abnormal results, 64 children had autism, 10 had an ASD or milder presentation, 6 had another developmental disorder, 3 had Rett syndrome, had Down syndrome, and 1 had Wolf-Hirshhorn syndrome. The abnormal EEG findings included epileptiform abnormalities in 55 patients (65%), and slowing in only 13 patients (15%). The focality of the epileptiformfindings included 26 (30%) in the temporal areas, 24 (28%) in the central area, 20 (23%) in the frontal area, and 7 (8%) in the occipital area. These findings confirm the importance of ongoing medicalfollow-up for children with ASDs, especially for those with abnormal EEG results.
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PMID:Electroencephalogram abnormalities in children with autism spectrum disorders. 1600 17

We retrospectively reviewed the medical records of neonates with chromosomal abnormalities and epilepsy who had been admitted to the neonatal intensive care unit (NICU) and followed up at the outpatient clinic of Dokkyo University School of Medicine. Chromosomal anomalies were diagnosed in 128 of 5789 patients admitted from 1978 through 2001. Seventy-one neonates had trisomy 21, 29 had trisomy 18, 8 had trisomy 13, and 20 had other chromosomal anomalies. Seizures occurred in five patients with trisomy 21 and in one patient each with trisomy 18, 6q-, 13q-, 21q-, and mosaicism trisomy 13. Two patients with 4p- [Wolf-Hirschhorn syndrome] were admitted to the NICU, but were not followed up at our outpatient clinic. The boy with 6q- (46,XY,-6, +der(6)t(6;11)(q25.1;q23.3)mat) had agenesis of the corpus callosum and multiple congenital anomalies as well as intractable epilepsy. The girl with 13q- (46, XX, t(2,4)(q24.2;p14), del (13)(q21.2q31.2)) had infantile spasms at 12 months, which were well controlled with nitrazepam and vitamin B6. The girl with mosaic trisomy 8q; (46, XX, der(8) (qter-->q11.2::p23.3-->qter)/46, XX), was not born at our hospital, but showed unique clinical features. She had intractable epilepsy characterized by episodes of vomiting and staring with astatic seizures. Computed tomography of the brain revealed bilateral calcification in the globus pallidus, associated with bursts of high-amplitude slow waves on electroencephalography. One of the two patients with del(15)(q12)[Angelman syndrome] had giant-amplitude visual evoked potential, suggesting hyperexcitability of the visual cortex.
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PMID:An analysis of epilepsy with chromosomal abnormalities. 1602 55

Tuberous sclerosis complex (TSC) is a common genetic disorder in which affected individuals develop mental retardation, developmental brain defects and seizures. The TSC gene products, hamartin and tuberin, form a complex, of which tuberin is assumed to be the functional component being involved in a wide variety of different cellular processes. Here we report that tuberin protein levels are decreased in the frontal cortex of patients with Alzheimer's disease. In addition, tuberin levels are also decreased in Down syndrome brain samples positive for beta-amyloid plaques and neurofibrillary tangles. Analysis of NeuN revealed that this regulation is not a consequence of differences in the amount of postmitotic neurons. This first connection of tuberin to another common disease beside TSC stimulates new approaches to investigate the molecular development and to establish new therapeutic strategies.
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PMID:Tuberin--a new molecular target in Alzheimer's disease? 1634 38


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