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)

Patients who suffer from Down Syndrome may have a number of orthopedic and rheumatologic disorders. Recent life-table study of live-born individuals with Down Syndrome reports a survival rate of >50% to the age of 50. Therefore some osteoporotic-related disorders have to be considered. Femoral neck fracture is a typical disease when these patients are elderly, often due to traumatic episodes or to violent seizures. We report the case of a 50-year-old Down Syndrome patient who had progressive loss of mobility and standing capacity associated with mental confusion, first considered to be a neurological disturbance. He lived with his family and led a standard lifestyle for his condition with a normal ability to walk. The parents reported he had not fallen and that, before the episode, he had been able to walk and stand normally. After examination by a multidisciplinary team of physicians, the diagnosis was a bilateral femoral neck fracture. The patient was then treated with a one-stage bilateral hip hemiarthroplasty. The pathogenesis of osteoporosis Down Syndrome patients is multifactorial and includes a sedentary lifestyle and poor mobility, endocrine abnormalities, and anticonvulsant medications. The musculoskeletal disorders, however, are not the only medical problems these patients have to face. Because of the limited communicative skills, clinical symptoms and signs of early disease frequently go undetected or are misdiagnosed for long periods of time. For this reason we recommend annual systematic screening for health problems including screening for osteoporosis.
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PMID:Multidisciplinary investigation in Down syndrome: bear in mind. 1929 30

Epilepsy is rarely considered as a major component of Down syndrome. We evaluated the prevalence of epileptic seizures in 252 (97 girls and 155 boys) children and adolescents with Down syndrome evaluated at Department of Pediatric Neurology between 1994 and 2007. Results showed that 15 (6%) patients had epileptic seizures: 8 partial seizures; 1 infantile spasms, 1 Lennox-Gastaut syndrome, and 5 generalized tonic-clonic seizures. Electroencephalography was performed on all patients with Down syndrome. Focal changes, spikes, generalized slowing, and hypsarrhythmia were recorded. The electroencephalography was found to be abnormal in Down syndrome with epilepsy in 100%. Almost 60% of patients with Down syndrome and epilepsy had seizures, but 40% of the patients were seizures-free. Quantitative electroencephalography analysis revealed significant differences between children with Down syndrome and the control groups in the alpha, delta, and beta rhythms. Our findings are in accordance with other reports.
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PMID:Clinical and EEG features of epilepsy in children and adolescents in Down syndrome. 1933 85

We report here a 19-year-old woman with Down syndrome and end-stage renal disease who presented with left-sided weakness and fever. She had a massive pericardial effusion of unclear origin that required daily hemodialysis (HD) and cardiac intervention. She developed an acute right middle cerebral artery infarction with severe edema; her cerebral edema significantly improved with daily HD. Later in her hospitalization, she developed seizures and new onset of multiple acute embolic infarctions in left middle cerebral artery, left anterior cerebral artery (ACA), and right posterior cerebral artery (PCA) distributions with midline shift. However, we again noticed a dramatic decrease in cerebral edema with frequent HD. Although there is controversy about the use of dialysis in patients with stroke, our case suggests that daily HD may provide an alternate strategy for treating massive cerebral infarction. More studies are needed in these patients.
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PMID:Acute massive cerebral infarctions treated with hemodialysis. 1956 Jun 89

Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. It can be primary or secondary to genetic syndromes such as Down syndrome. We report a seven year-old girl with a Down syndrome that presented with a disturbance of consciousness, seizures and a right hemiparesia at the age of five. Magnetic resonance imaging showed old cortical ischemic lesions in both cerebral hemispheres and a recent infarction in the territory of the left middle cerebral artery. Brain angiography showed a proximal stenosis of both medial cerebral arteries and a net of collateral vessels, consistent with the diagnosis of moyamoya syndrome. The patient had also an antithrombin III deficiency. Aspirin was indicated and a surgical correction was recommended. However, prior to the procedure, the patient had a new infarction in the territory of the right middle cerebral artery, which caused a severe disability.
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PMID:[Moyamoya disease in a girl with Down syndrome. Report of one case]. 1991 72

Metabotropic glutamate receptor 5 (mGluR(5)) regulates the translation of amyloid precursor protein (APP) mRNA. Under resting conditions, mRNA is bound to and translationally repressed by the fragile X mental retardation protein (FMRP). Upon group 1 mGluR activation, FMRP dissociates from the mRNA and translation ensues. APP levels are elevated in the dendrites of primary neuronal cultures as well as in synaptoneurosomes (SN) prepared from embryonic and juvenile fmr-1 knockout (KO) mice, respectively. In order to study the effects of APP and its proteolytic product Abeta on Fragile X syndrome (FXS) phenotypes, we created a novel mouse model (FRAXAD) that over-expresses human APPSwe/Abeta in an fmr-1 KO background. Herein, we assess (1) human APP(Swe) and Abeta levels as a function of age in FRAXAD mice, and (2) seizure susceptibility to pentylenetetrazol (PTZ) after mGluR(5) blockade. PTZ-induced seizure severity is decreased in FRAXAD mice pre-treated with the mGluR(5) antagonist MPEP. These data suggest that Abeta contributes to seizure incidence and may be an appropriate therapeutic target to lessen seizure pathology in FXS, Alzheimer's disease (AD) and Down syndrome (DS) patients.
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PMID:MPEP reduces seizure severity in Fmr-1 KO mice over expressing human Abeta. 1991 29

As the mechanisms underlying neuronal development and degeneration become clarified, a number of common effectors and signaling pathways are becoming apparent. Here we describe the identification of Abeta, long considered a pathologic mediator of Alzheimers Disease and Down Syndrome, as similarly over-expressed in the neurodevelopmental disease, Fragile X Syndrome. We also show that mGluR5 inhibitors, currently employed for the treatment of Fragile X, reduce Abeta production in rodent models of Fragile X and AD as well as reduce disease phenotypes including seizures. Thus seemingly disparate neurologic diseases may share a common pathologic instigator and be treatable with a common, currently available class of therapeutics.
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PMID:Fragile X Syndrome and Alzheimer's Disease: Another story about APP and beta-amyloid. 2008 9

A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome.
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PMID:A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome. 2016 73

Amyloid-beta protein precursor (AbetaPP) is overexpressed in Alzheimer's disease (AD), Down syndrome (DS), autism, and fragile X syndrome. Seizures are a common phenotype in all of these neurological disorders, yet the underlying molecular mechanism(s) of seizure induction and propagation remain largely unknown. We demonstrate that AD (Tg2576) and DS (Ts65Dn) mice exhibit audiogenic seizures, which can be attenuated with antagonists to metabotropic glutamate receptor 5 (mGluR5) or by passive immunization with anti-amyloid-beta antibody. Our data strongly implicates AbetaPP or a catabolite in seizure susceptibility and suggests that mGluR5 mediates this response.
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PMID:Alzheimer's disease and Down syndrome rodent models exhibit audiogenic seizures. 2041 55

We describe a girl with microcephaly, short stature, coarse face, severe growth and developmental delay, seizures, hypertonia, bilateral flexion contractures of the knees, and a de novo 21;21 translocation trisomy 21 in peripheral blood lymphocytes. Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation using whole chromosome painting probe 21 (WCP21). Chromosome analysis which was also performed on skin fibroblasts and revealed mosaicism for a translocation trisomy 21 cell line (22.3%) as well as a second cell line consisting of one normal chromosome 21 and a small ring chromosome 21 derived from the translocation 21q21q (61%) and a third line consisting of monosomy 21 (16.7%). FISH analyses by LS121 probe for the critical (21q22.2-22.3) region of Down syndrome (DS) on interphase blood cells resulted with 30% two signals and 70% three signals, skin fibroblasts showed 84% single signal, 9% two signals and 7% three signals. The size of ring chromosome 21 in skin fibroblasts was very small and probably there was a large, more proximally located deletion including chromosome 21q22 band. We consider that the atypical DS phenotype of the patient originated from the small ring chromosome 21 and the monosomy 21 in the skin fibroblasts and other tissues not available for analysis. Therefore, the clinical findings of the patient were most similar to monosomy 21 mosaicism syndrome.
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PMID:Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy. 2042 31

Late Onset Myoclonic Epilepsy in Down Syndrome (LOMEDS) is a recognized entity usually preceded by cognitive deterioration. We report two patients with LOMEDS and cognitive decline, aged 52 and 44 years. Continuous video-EEG recording showed generalised spike and slow wave complexes as an ictal correlate of the myoclonic jerks in both patients. Low dose levetiracetam resulted in rapid, sustained seizure freedom in both patients with no reported adverse events. As for other myoclonic epilepsies, levetiracetam appears to be effective for the treatment of LOMEDS, and may be considered as a first line agent for this disorder.
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PMID:Improvement of myoclonic epilepsy in Down syndrome treated with levetiracetam. 2048 13


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