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)

We analyzed 71 patients (45 males and 26 females) with Wilson's disease (WD) who were seen at our hospital from 1979 through 1990. The mean age at onset was 18.1 +/- 6.5 years, with 17.0 +/- 6.6 years for males and 20.2 +/- 5.7 years for females. The mean age at the time of diagnosis was 21.0 +/- 6.3 years. Hepatic WD was the most frequent mode of presentation in childhood with a mean age of 15.5 +/- 6.0 years, while neurologic WD tended to occur in adolescence with a mean age of 21.0 +/- 8.9 years. The ages of onset were 12.5 +/- 0.5 years for renal WD and 25.3 +/- 2.4 years for psychiatric WD. The common initial symptoms were neurologic and hepatobiliary. In addition, hematologic and renal disorders were also common during evaluation. The neurologic findings at the time of diagnosis were tremors (66.2%), dysarthria (56.3%), gait disturbances (46.5%), dystonia (42.3%) and decreased facial expressions (40.8%). Less frequent but notable neurologic presentations were psychosis (11.3%), epileptic seizures (5.6%) and hypokalemic periodic paralysis (1.4%). When compared with two previous large Chinese series, the present data show a male preponderance, an earlier age of onset for males and higher incidences of hepatic, hematologic and renal involvement. The possible reasons for the discrepancies between the present study and previous Chinese series are discussed.
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PMID:Wilson's disease: clinical analysis of 71 cases and comparison with previous Chinese series. 135 28

Although lenticular gray matter lesions in Wilson's disease (WD) may resolve following long-term decoppering therapy, response of cerebral white matter lesions to such a treatment has not been reported. A patient with WD developed dystonia of the left hand and focal seizures involving the left upper limb with occasional generalization. CT disclosed a low density area in the right frontal white matter. Initiation of penicillamine therapy resulted in worsening of clinical manifestations, further extension of the right frontal lesion, and development of a new left parietal lesion. However, after five years of continued penicillamine therapy, clinical improvements were noted, including disappearance of the left parietal lesion and almost complete resolution of the right frontal lesion. The present case suggests that cerebral white matter lesions in WD may also respond to long-term chelating therapy.
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PMID:Resolution of cerebral white matter lesions following long-term penicillamine therapy for Wilson's disease: report of a case. 135 51

Four unrelated children were thought to have valproate-associated hepatotoxicity. They presented with recurrent partial secondarily generalized status epilepticus and epilepsia partialis continua followed by mental and motor regression. Despite treatment with multiple antiepileptic medications, they continued to have seizures. After initiation of valproic acid (VPA), all 4 manifested liver failure within 3 months. Two of these children each had 1 sibling who was not exposed to VPA, but who developed the same clinical picture including liver failure. At the time of autopsy, all 6 children had similar neuropathological findings with focal areas of spongiosis and neuronal loss, diffuse gliosis, and Alzheimer type II cells. One VPA-treated patient underwent a successful liver transplantation only to die from relentlessly progressive neurological deterioration. We propose that many of the reported patients with VPA-associated hepatotoxicity represent undiagnosed patients with early childhood hepatocerebral degeneration, the Huttenlocher variant of Alpers' syndrome. This disease manifests by obstinate partial seizures, recurrent partial secondarily generalized status epilepticus, epilepsia partialis continua, psychomotor deterioration, and hepatic dysfunction that is exacerbated by VPA administration. The accelerated demise from liver failure in the nontransplanted patients before the central nervous system pathology fully evolves makes the diagnosis of this rare condition difficult. The occurrence of disease in the unexposed siblings suggests recessive inheritance.
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PMID:Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity. 147 67

Four patients with Wilson's disease had CT manifestations of cerebral white matter lesions involving frontal lobes in two patients but extending to other cerebral areas in the remaining two. Two patients with extensive white matter involvement were bed-ridden with generalized flexion rigidity and spasticity, but the other 2 patients led an independent life with minimal extrapyramidal symptoms. Three patients developed tonic focal seizures with or without secondary generalization. Scalp-recorded somatosensory evoked potentials (SEPs) over the affected hemispheres were absent but the spinal SEPs and brain stem auditory evoked potentials were preserved. The evoked potential data support the CT findings that the white matter involvement in Wilson's disease was primarily confined to the cerebral hemispheres.
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PMID:Clinical, CT and evoked potential manifestations in Wilson's disease with cerebral white matter involvement. 253 81

The relationship between Wilson's disease and epilepsy is explored, both in the literature and in a series of 200 cases of Wilson's disease. Details of 44 literature and 14 personal cases of both disorders are presented. The prevalence on December 1, 1986 of epilepsy in the Cambridge series was 6.2%, ten times higher than that of epilepsy in the general population. Seizures in Wilson's disease occur at any stage of the disease, but often begin shortly after the start of treatment. Prognosis of seizures was comparable with the best quoted figures for idiopathic epilepsy: at 7 years 60% of cases had been seizure-free for at least 5 years, and 75% for at least 2 years. Possible mechanisms of seizures are discussed. Penicillamine-induced pyridoxine deficiency is probably not involved in more than a minority of cases. It is more likely that a direct effect of copper deposition is responsible for most of the seizures.
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PMID:Wilson's disease and epilepsy. 305 96

Lesions of cortex and white matter are present in Wilson's disease in approximately 10 p. cent of cases. Before Magnetic Resonance Imaging (MRI) only post-mortem examination evidenced them. We report the case of a 15 year-old girl in whom Wilson's disease was diagnosed after partial motor epileptic seizures. She later presented with progressive extrapyramidal and pyramidal signs, severe cognitive weakening and disorder of behaviour. MRI clearly showed cortical and subcortical lesions by an enhanced signal (T2 values). It showed as well the classical picture of lesion in the lenticular nuclei. With T1 values it showed an extensive cortical atrophy and a widening of the ventricules.
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PMID:[Wilson's disease: demonstration of lesions of the cortex and white matter by MRI]. 342 Mar 53

The therapeutic responses of seven children with Wilson's disease who presented with neurological disease were evaluated. Neurological abnormalities comprised intellectual deterioration in 7, conduct disorder in five, dystonia in three, choreoathetosis in three, seizures in one and hemiparesis in one. Lethargy and weight loss were present for several months in 6 children. Four children had clinically demonstrable liver disease which was fatal in two. Electroencephalography performed in two children was normal. Computed tomography (CT) of the brain in three children showed cerebral atrophy in all and areas of low attenuation in the basal ganglia which resolved on treatment in one. All patients were treated with penicillamine but, in four, triethylene tetramine (TETA) was substituted because of adverse effects. Neurological abnormalities in these patients were reversible.
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PMID:Neurological abnormalities in Wilson's disease are reversible. 356 99

From 1974 through 1982, fulminant hepatitis was diagnosed in 34 patients at our institution. Of these patients, only two survived (survival rate, 6%). This syndrome was caused by viruses (B and non-B hepatitis and herpes simplex) in 23 patients, hepatotoxic drug in 6, Wilson's disease (hepatolenticular degeneration) in 3, and industrial poisons in 2. Most of the patients died within 10 days after the onset of encephalopathy. The poor prognosis in our group of patients was probably related to the preponderance of older patients and cases caused by non-B hepatitis virus. In our patients, the clinical course was complicated by renal failure, ascites, bleeding, sepsis, pancreatitis, and seizures. The major cause of death was hepatic failure.
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PMID:Fulminant hepatitis: Mayo Clinic experience with 34 cases. 392 80

The role of divalent transition metal ions in neural function is poorly understood. In excess, these ions are associated with neurological disorders such as Wilson's disease, Pick's disease and epileptic seizures. We suggest that zinc ions, which are contained in nerve terminals, are extruded into the extracellular space during neuronal activity. Excessive levels of zinc may be released during intense neuronal activation, and contribute to the paroxysm and toxic damage observed. Zinc ions are contained in high concentrations in mossy fibres of the hippocampal formation, and it is the postsynaptic neurones of these fibres which are most susceptible to the toxic effects of kainic acid, a potent convulsant, or to chronic exposure to organometallic compounds. Here we demonstrate for the first time that Zn2+ is released into the extracellular space during excitation of hippocampal slices.
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PMID:Release of endogenous Zn2+ from brain tissue during activity. 671 66

Certain features of Wilson's disease (WD) in Asia have been found to be different from those in other continents. The higher prevalence rate in Japan is presumably due to a higher consanguinity rate. In Chinese there is a tight linkage between WD and two gene loci for esterase D and retinoblastoma in the long arm of chromosome 13. The high proportion of patients with hepatic presentation accounts for early onset of WD in the Japanese and Chinese series. Skeletal involvement, leg hyperpigmentation, dark complexion, amenorrhea, epileptic seizures, and cerebral white matter degeneration are relatively more common among WD patients in Asia. Excessive copper in the liver appears to have a protective effect against hepatocellular carcinoma and type B hepatitis. Electrophysiological studies suggest widespread functional disturbances of the CNS in WD. Side-effects from penicillamine are rather frequent and often lead to interruption of the therapy. Trien is found to be effective without adverse reactions. Oral zinc therapy may be a suitable alternative for long-term management of WD patients in developing Asian countries.
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PMID:Geographic variations in Wilson's disease. 841 43


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