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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied the prognosis of twenty-five idiopathic status convulsivus (SC) patients. They were neurologically normal before the onset, and had the first episode of idiopathic SC, defined as a seizure with a duration of longer than 30 minutes, febrile in 18 cases and afebrile in 7 cases. We excluded acute encephalitis, encephalopathy and past history of epilepsy in all patients. The age of the first SC ranged from 3 months to five years and 3 months (median; 1 year and 9 months). They were followed successively for a period of 3 years to 15 years and two months (median 8 years and 7 months). The final diagnosis was epilepsy in 7 cases, epilepsy border in 11 cases, and febrile convulsion in 7 cases. One patient showed a remarkable learning disability, but no patients had psychomotor retardation. Antiepileptic drugs were given 24 patients, all of whom were well controlled, including 17 cases with successful withdrawal of these drugs. In our febrile convulsion cases, there was no more than one risk factor for the development of epilepsy (Awaya). The prognosis of febrile SC cases was favorable.
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PMID:[A follow-up study of idiopathic status convulsivus in childhood]. 826 Feb 4

A. Digital EEG is an established substitute for recording, reviewing, and storing a paper EEG record. It is a clear technical advance over previous paper methods. It is highly recommended. (Class III evidence, Type C recommendation). B. EEG brain mapping and other advanced QEEG techniques should be used only by physicians highly skilled in clinical EEG, and only as an adjunct to and in conjunction with traditional EEG interpretation. These tests may be clinically useful only for patients who have been well selected on the basis of their clinical presentation. C. Certain quantitative EEG techniques are considered established as an addition to digital EEG in: C.1. Epilepsy: For screening for possible epileptic spikes or seizures in long-term EEG monitoring or ambulatory recording to facilitate subsequent expert visual EEG interpretation. (Class I and II evidence, Type A recommendation as a practice guideline). C.2. OR and ICU monitoring: For continuous EEG monitoring by frequency-trending to detect early, acute intracranial complications in the OR or ICU, and for screening for possible epileptic seizures in high-risk ICU patients. (Class II evidence, Type B recommendation as a practice option). D. Certain quantitative EEG techniques are considered possibly useful practice options as an addition to digital EEG in: D.1. Epilepsy: For topographic voltage and dipole analysis in presurgical evaluations. (Class II evidence, Type B recommendation). D.2. Cerebrovascular Disease: Based on Class II and III evidence, QEEG in expert hands may possibly be useful in evaluating certain patients with symptoms of cerebrovascular disease whose neuroimaging and routine EEG studies are not conclusive. (Type B recommendation). D.3. Dementia: Routine EEG has long been an established test used in evaluations of dementia and encephalopathy when the diagnosis remains unresolved after initial clinical evaluation. In occasional clinical evaluations, QEEG frequency analysis may be a useful adjunct to interpretation of the routine EEG when used in expert hands. (Class II and III evidence as a possibly useful test, Type B recommendation). E. On the basis of current clinical literature, opinions of most experts, and proposed rationales for their use, QEEG remains investigational for clinical use in postconcussion syndrome, mild or moderate head injury, learning disability, attention disorders, schizophrenia, depression, alcoholism, and drug abuse. (Class II and III evidence, Type D recommendation). F. On the basis of clinical and scientific evidence, opinions of most experts, and the technical and methodologic shortcomings, QEEG is not recommended for use in civil or criminal judicial proceedings. (Strong Class III evidence, Type E recommendation). G. Because of the very substantial risk of erroneous interpretations, it is unacceptable for any EEG brain mapping or other QEEG techniques to be used clinically by those who are not physicians highly skilled in clinical EEG interpretation. (Strong Class III evidence, Type E recommendation).
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PMID:Assessment of digital EEG, quantitative EEG, and EEG brain mapping: report of the American Academy of Neurology and the American Clinical Neurophysiology Society. 922 9

In a cross-sectional study of 24 Oriental children with systemic lupus erythematosus (SLE) with a mean age of 11.25 years, 75% were found to have clinical and neurophysiological evidence of cerebral lupus. Seizures were the most common manifestation affecting 11 (61%) of the cases, followed by psychosis in five (27.7%), encephalopathy in five (27.7%), headaches in five (27.7%), personality changes in four (22.2%), stroke in three (16.6%), movement disorders in three (16.6%) and myelitis in one child (5.5%). Four children had cerebral lupus as the presenting manifestation of SLE. Twenty-one children had an electroencephalogram (EEG) of which 11 were normal. Abnormalities detected in the rest included focal sharps, slowing of background and electrodecremental changes. There was a poor correlation of EEG with the clinical presentation. Sixteen children with cerebral lupus had a computed tomogram (CT) of which three were normal. The commonest abnormality was cerebral atrophy with or without infarcts. Only four of the cases had lupus anticoagulant but compliment was reduced in 13. Sixteen of the cases also had renal involvement. Treatment was generally with steroids with only two patients receiving cyclophosphamide for cerebral relapse. Eight children (44%) made a full recovery. Learning disability was the most frequent sequelae affecting one-third of children seen at a 1-year follow up. Four (22%) had epilepsy, two (11%) had motor deficits and one child had optic atrophy. One child died of cerebral haemorrhage during a hypertensive crisis.
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PMID:Childhood cerebral lupus in an Oriental population. 1039 44

Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding methyl-CpG binding protein 2 (MeCP2), was recently discovered. Here we explore the spectrum of phenotypes resulting from MECP2 mutations. Both nonsense (R168X and R255X) and missense (R106W and R306C) mutations have been found, with multiple recurrences. R168X mutations were identified in six unrelated sporadic cases, as well as in two affected sisters and their normal mother. The missense mutations were de novo and affect conserved domains of MeCP2. All of the nucleotide substitutions involve C-->T transitions at CpG hotspots. A single nucleotide deletion, at codon 137, that creates a L138X stop codon within the methyl-binding domain was found in an individual with features of RTT and incontinentia pigmenti. An 806delG deletion causing a V288X stop in the transcription-repression domain was identified in a woman with motor-coordination problems, mild learning disability, and skewed X inactivation; in her sister and daughter, who were affected with classic RTT; and in her hemizygous son, who died from congenital encephalopathy. Thus, some males with RTT-causing MECP2 mutations may survive to birth, and female heterozygotes with favorably skewed X-inactivation patterns may have little or no involvement. Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.
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PMID:Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 1057 5

The paper gives a brief review of human molybdenum metabolism and toxicity and presents the first known case of acute clinical poisoning with molybdenum from the dietary molybdenum (Mo) supplement in a male patient in late thirties. In over 18 days, the patient had consumed a cumulative dose of 13.5 mg Mo (300-800 micrograms Mo/day). Followed the development of acute psychosis with visual and auditory hallucinations, a series of petit mal seizures, and one life threatening grand mal attack. The symptoms remitted several hours after the start of chelation therapy with calcium ethylene diamine tetraacetic acid (CaEDTA). A battery of neuropsychological tests and Spectral Emission Computer Tomography demonstrated evident frontal cortical damage of the brain. One year after the Mo poisoning, the patient was diagnosed toxic encephalopathy with executive deficiencies, learning disability, major depression, and post-traumatic stress disorder. The paper strongly advocates issuance of and strict adherence to written warnings on the instruction labels not to mix potentially harmful neurotoxic substances, such as molybdenum, with other nutriceuticals and to instructions stating maximal single and cumulative doses. Molybdenum is a new and unwelcome member of the "metal madness" family.
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PMID:A case report of acute human molybdenum toxicity from a dietary molybdenum supplement--a new member of the "Lucor metallicum" family. 1064 45

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that manifests in females, typically after the first year of life. It is a leading cause of mental retardation and autistic behavior in girls and women; a hallmark of the disease is incessant hand movements in the form of wringing, twisting, or clapping. It was recently discovered that RTT is caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. MECP2 assists in the transcriptional silencing process via DNA methylation; we hypothesize that disruption of this gene alters the normal developmental expression of various other genes, some of which must account for the peculiar neurologic phenotype of RTT. Molecular studies have identified MECP2 mutations in up to 80% of classic RTT patients; mutation type has some effect on the phenotypic manifestation of RTT, but the pattern of X inactivation seems to determine phenotypic severity. Favorable (skewed) X inactivation can so spare a patient from the effects of mutant MECP2 that they display only the mildest learning disability or no phenotype at all. The unmitigated impact of mutant MECP2 can be inferred from the few males who have been born into RTT kindreds with such severe neonatal encephalopathy that they did not survive their second year. MECP2 mutations thus manifest in a far broader array of phenotypes than classic RTT. This discovery should prove helpful in diagnosing cases of mild learning disability or severe neonatal encephalopathies of unknown cause and also should provide insight into the pathogenesis of RTT.
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PMID:Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. 1118 Feb 22

Rett syndrome, a neurodevelopmental disorder that is a leading cause of mental retardation in females, is caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). MECP2 mutations have subsequently been identified in patients with a variety of clinical syndromes ranging from mild learning disability in females to severe mental retardation, seizures, ataxia, and sometimes neonatal encephalopathy in males. In classic Rett syndrome, genotype-phenotype correlation studies suggest that X chromosome inactivation patterns have a more prominent effect on clinical severity than the type of mutation. When the full range of phenotypes associated with MECP2 mutations is considered, however, the mutation type strongly affects disease severity. MeCP2 is a transcriptional repressor that binds to methylated CpG dinucleotides throughout the genome, and mutations in Rett syndrome patients are thought to result in at least a partial loss of function. Abnormal gene expression may thus underlie the phenotype. Discovering which genes are misregulated in the absence of functional MeCP2 is crucial for understanding the pathogenesis of this disorder and related syndromes.
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PMID:Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. 1126 31

The aim of this study was to describe and analyze gross and fine motor function and accompanying neurological impairments in children with cerebral palsy (CP) born between 1991 and 1998 in western Sweden. A population-based study comprised 411 children with a diagnosis of CP ascertained at 4 to 8 years of age. Gross Motor Function Classification System (GMFCS) levels were documented in 367 children (205 males, 162 females). Bimanual Fine Motor Function (BFMF) classification levels of 345 of the children and information on learning disability, epilepsy, visual and hearing impairments, and hydrocephalus from 353 children were obtained. For spastic CP, a new classification according to the Surveillance of Cerebral Palsy in Europe of uni- and bilateral spastic CP was applied. GMFCS was distributed at Level I in 32%, Level II in 29%, Level III in 8%, Level IV in 15%, and Level V in 16%. The corresponding percentages for BFMF were 30.7%, 31.6%, 12.2%, 11.9%, and 13.6% respectively. Learning disability was present in 40%, epilepsy in 33%, and severe visual impairment in 19% of the children. Motor function differed between CP types. More severe GMFCS levels correlated with larger proportions of accompanying impairments and, in children born at term, to the presence of adverse peri/neonatal events in the form of intracranial haemorrhage/stroke, cerebral infection, and hypoxic-ischaemic encephalopathy. GMFCS Level I correlated positively to increasing gestational age. We conclude that the classification of CP should be based on CP type and motor function, as the two combine to produce an indicator of total impairment load.
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PMID:Gross and fine motor function and accompanying impairments in cerebral palsy. 1670 Sep 30

The purpose of this study was to investigate the frequency and clinical outcome of patients with encephalopathic electroencephalograms (EEGs) in a neurophysiology department based in a general hospital. We performed a retrospective review of all EEGs obtained during an 18-month period in a large tertiary referral hospital. The referral reasons for EEG, the diagnoses reached, and patient outcomes were reviewed according to EEG severity. One hundred and twenty-three patients with encephalopathic EEGs were reviewed. The most common referral reason found was for an assessment of a possible first-onset seizure. The most common diagnosis found was one of dementia or learning disability. Of patients who were followed-up for a median of 19 months, 20.7% had died. The mortality rate generally increased according to the severity of the encephalopathy on EEG. However, 21.4% of those patients with excessive theta activity only on EEG had died. This study highlights an increased mortality even in the apparently 'milder' degrees of EEG abnormalities.
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PMID:Aetiology and prognosis of encephalopathic patterns on electroencephalogram in a general hospital. 1838 3

Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay. Abnormal hair, hepatomegaly, and hepatic fibrosis are unique features of this disorder. Twelve patients with argininosuccinate lyase deficiency were ascertained between 4 and 6 weeks of age by urine amino acid screening. One infant in a previously identified family was diagnosed shortly after birth. Diagnosis was confirmed by enzyme assay in red blood cells and/or skin fibroblasts. At the time of last follow-up, patients had been followed for 13-33 years. All patients were asymptomatic at detection, 7 had slightly increased blood ammonia, and all were initially treated with low-protein diet. Utilization of (14)C-citrulline by intact skin fibroblasts measured by (14)C incorporation into macromolecules was 74-135% of the control mean for 7 of the 8 patients studied. Nine patients had normal development, 4 had learning disability, 6 had EEG abnormalities, 3 had seizure disorder. None had any episodes of hyperammonemic coma. None had hepatomegaly. Patients detected by screening had higher enzyme activity measured by the (14)C-citrulline incorporation assay than comparison groups of patients with neonatal-onset and with late-onset detected by clinical disease. The ability to utilize (14)C-citrulline by intact fibroblasts seems to correlate with clinical outcome and may have prognostic value. It is likely that early diagnosis and treatment contributed to the relatively mild clinical course of the study group.
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PMID:Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. 1963 76


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