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

Disulfiram is known to produce toxic encephalopathy and peripheral neuropathy. The case of a 37-year-old alcoholic who attempted to commit suicide by taking 22.5 g disulfiram is described. During the first 6 days after the intoxication he was stuporous and had cerebellar ataxia and dysarthric speech. Then he became comatose, and as he recovered from coma, he showed peripheral neuropathy including diplegia faciei and severe tetraparesis. Denervation potentials were detected in both facial muscles and distal muscles of the upper and lower limbs, while conduction velocity was normal. Axonal degeneration was verified by sural nerve biopsy. In addition neurofilamentous axonopathy was documented. The recovery from his paresis lasted 2 years.
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PMID:[Polyneuropathy caused by disulfiram poisoning]. 686 Jan 22

Prospective follow-up studies were done on 62 term infants who were treated as neonates for clinical evidence of postasphyxial encephalopathy. Computed tomographic studies were done during the first two weeks of life and repeated at six months of age. All children were followed a minimum of 18 months, at which time they underwent a psychometric and a neurologic evaluation. Major neurodevelopmental sequelae consisted of: hydrocephalus; spastic quadriplegia, hemiplegia, or diplegia; or a mean Bayley score less than 70. Major sequelae were present in 29 (47%) of the children: all were severely handicapped. Five other children scored between 70 and 85 on the Bayley test. Computed tomographic scans were highly predictive of status at 18 months. Eleven of the 15 with intraventricular or parenchymal hemorrhage were severely handicapped. Eighteen of 20 with extensive areas of hypodensity of the white and gray matter (neonatal CT) were abnormal at 18 months. All but two were severely handicapped. The results suggest that CT studies are very useful in the care of the asphyxiated term infant who has clinical signs of encephalopathy.
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PMID:The prognostic value of computed tomography as an adjunct to assessment of the term infant with postasphyxial encephalopathy. 729 58

To evaluate the topographical neurological distribution, patterns of abnormal tone and related functional neuromotor impairment after grade 3 and grade 4 intraventricular/periventricular haemorrhage (IPVH), 33 children with previous grade 3 or 4 IPVH of mean gestational age 30.9 weeks (range 25-40 weeks) and mean birth weight 1743 g (range 866-3600 g) were examined neurologically at 4.7 years (range 0.75-10.8 years). Neurological signs were absent in 10/33 cases which were equally distributed between the grade 3 and grade 4 IPVH groups. The largest single topographical neurological distribution was hemiparesis in 8/23, followed jointly by diplegia (cerebral paraplegia) in 6/23 and triplegia in 6/23 cases and finally quadriplegia in 3/23 cases. Grade 4 IPVH tended to result in asymmetrical syndromes, accounting for 7/8 cases of hemiparesis and 5/6 cases of triplegia, whereas all 3/3 cases of quadriplegia followed grade 3 IPVH. The 6/23 cases of diplegia were shared between the grade 3 and grade 4 IPVH groups. Tone was normal in 7/8 of the hemiparetic subjects. Dystonia was the commonest tone abnormality, affecting 8/23 children with neurological disturbance, followed by ataxia/hypotonia in 4/23 and mixed dystonia/hypotonia in 3/23. Only 1/23 cases had signs of spasticity. Spasticity is rare following severe IPVH. Diplegic children had a better functional neuromotor grade than hemiparetic children, who in turn did better than triplegic children. Ataxia hypotonia resulted in better functional outcome than dystronia, which in turn was more favourable than mixed tone patterns. Cranial imaging by ultrasound (US) or computed tomographic (CT) scanning proved an unreliable prognostic indicator except in the case of hemiparesis, for which US scans correctly predicted the affected side in 5/7 cases. The neurological syndromes following severe IPVH differ from the classical encephalopathy of prematurity, and this should lead to a re-appraisal of the trends in the prevalence of cerebral palsy. Caution should be exercised in the interpretation of cranial imaging with regard to pessimistic prognoses in the presence of changes or undue optimism in their absence.
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PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

Forty-four patients (fifty-two hips) who had static encephalopathy and acetabular dysplasia were managed with a Pemberton osteotomy as part of a comprehensive operative approach. Thirty-three patients had quadriplegia and were unable to walk; the remaining eleven patients had diplegia and could walk. The age at the time of the operation ranged from four years and five months to sixteen years and five months, as an open triradiate cartilage is a prerequisite for the Pemberton procedure. Concomitant operative procedures included a varus rotational osteotomy in fifty of the involved hips, a soft-tissue release in thirty-seven hips, and an open reduction in thirteen hips. The mean center-edge angle preoperatively was -11 degrees (range, -80 to 17 degrees), which improved to a mean of 27 degrees (range, 5 to 62 degrees) at the time of the latest follow-up. The mean duration of follow-up was four years (range, two years to eight years and eight months). At the time of writing, none of the hips had redislocated but one hip had subluxated. Eight of the hips had been painful preoperatively, but none of these was painful at the time of the most recent follow-up. One patient who had not had pain in the hip preoperatively had pain at the time of the follow-up evaluation. There were no complications attributable to posterior uncovering of the hip. The age of the patient at the time of the operation had no discernible effect on the result.
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PMID:Pemberton pelvic osteotomy and varus rotational osteotomy in the treatment of acetabular dysplasia in patients who have static encephalopathy. 898 64

Malformations of the cerebral cortex (MCC) are often associated with severe epilepsy and developmental delay. About 40% of drug-resistant epilepsies are caused by MCC. Classification of MCC is based on embryological brain development, recognising forms that result from faulty neuronal proliferation, neuronal migration and cortical organisation. Hemimegalencephaly, an enlarged dysplastic hemisphere, can present as early onset severe epileptic encephalopathy or as partial epilepsy. In focal cortical dysplasia (FCD), MRI shows focal cortical thickening and simplified gyration. Patients have drug-resistant, often early onset epilepsy. Complete surgical ablation of FCD is accompanied by remission in up to 90% of patients, but may be technically difficult. Tuberous sclerosis (TS) is a multisystemic disorder primarily involving the nervous system; 60% of patients having epilepsy, with 50% having infantile spasms. TS is caused by mutations in the TSC1 and TSC2 genes; 75% of cases are sporadic. TSC1 mutations cause a milder disease. Bilateral periventricular nodular heterotopia (BPNH) consists of confluent and symmetric nodules of grey matter along the lateral ventricles. X-linked BPNH presents with epilepsy in females and prenatal lethality in most males. Most patients have partial epilepsy. Filamin A mutations have been reported in families and sporadic patients. Lissencephaly (LIS smooth brain) is a severe MCC characterised by absent or decreased convolutions. Classical LIS is quite rare and manifests with severe developmental delay, spastic quadriparesis and severe epilepsy. XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia in heterozygous females. Thickness of heterotopic band and degree of pachygyria correlate well with phenotype severity. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including partial epilepsy in most patients. Polymicrogyria (excessive number of small and prominent convolutions) has a wide spectrum of clinical manifestations ranging from early onset epileptic encephalopathy to selective impairment of cognitive functions. Bilateral perisylvian polymicrogyria may be familial. Patients present with faciopharingo-glosso-masticatory diplegia and epilepsy, which is severe in about 65% of patients.
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PMID:Epilepsy and malformations of the cerebral cortex. 1461 17

Patients with Leigh syndrome classically present in early childhood with developmental regression, ataxia, and hypotonia with subsequent respiratory and brainstem dysfunction. However, the clinical presentation can be highly variable. This report presents five cases of Leigh syndrome with atypical presentations. The first patient is a 17-month-old female who presented with progressive limb weakness diagnosed as Guillain-Barre syndrome. Postmortem examination demonstrated Leigh syndrome confined to the spinal cord. The case series then describes two sisters one of whom presented at 11 years of age with central respiratory failure and encephalopathy. Her 15-year-old sister presented with a progressive diplegia. The fourth patient presented with bronchiolitis and apnea at 3 months of age due to bilateral brainstem lesions. Her second cousin presented at 6 months of age with hypotonia, blindness, and tonic seizures. All patients had laboratory and radiologic findings consistent with Leigh syndrome. Evidence of spinal cord involvement was observed on magnetic resonance imaging in four of the five patients. Leigh syndrome can involve any level of the neuroaxis, resulting in a wide variety of presentations. Many atypical variants are observed, of which clinicians should be aware. Evidence of brainstem or spinal cord involvement should also be sought in patients with Leigh syndrome.
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PMID:Atypical presentations of leigh syndrome: a case series and review. 1586 34

The purpose of this study was to investigate the frequency and spectrum of magnetic resonance imaging (MRI) abnormalities in a population of children with cerebral palsy (CP) who were born in the years 2000 and 2001 in Victoria, Australia. In 2000 and 2001, 221 children (126 males, 95 females; mean age 6y [SD 7mo], range 5-7y) with CP, excluding those with CP due to postneonatal causes (6% of all cases), were identified through the Victorian Cerebral Palsy Register. All medical records were systematically reviewed and all available brain imaging was comprehensively evaluated by a single senior MRI radiologist. MRI was available for 154 (70%) individuals and abnormalities were identified in 129 (84%). The study group comprised 88% with a spastic motor type CP; the distribution was hemiplegia in 33.5%, diplegia in 28.5%, and quadriplegia in 37.6% of children. Overall, pathological findings were most likely to be identified in children with spastic hemiplegia (92%) and spastic quadriplegia (84%). Abnormalities were less likely to be identified in non-spastic motor types (72%) and spastic diplegia (52%). The most common abnormalities identified on MRI were periventricular white matter injury (31%), focal ischaemic/haemorrhagic lesions (16%), diffuse encephalopathy (14%), and brain malformations (12%). Dual findings were seen in 3% of patients. This is the first study to document comprehensively the neuroimaging findings of all children identified with CP born over a consecutive 24-month period in a large geographical area.
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PMID:Magnetic resonance imaging findings in a population-based cohort of children with cerebral palsy. 1902 78

Although bilateral injury to the thalami is often seen in (near)term infants with hypoxic ischemic encephalopathy (HIE), symmetrical thalamic lesions (STL) is a different, very rare condition, seen both in full-term and preterm infants often after an antenatal insult, although the history is not always clear. These lesions are usually first detected using cranial ultrasound (cUS). They may not always be seen on the first (admission) scan, but become apparent in the course of the 1st week after birth. Clinically, these infants present with hypo- or hypertonia, absence of sucking and swallowing reflexes, and they may have contractures and facial diplegia. Neuropathology commonly demonstrates a thalamic lesion with additional and variable involvement of basal ganglia and brainstem. The prognosis is very poor, the condition often leads to severe disabilities and/or death within the first years of life. The clinical course and neuroimaging findings of 13 patients with symmetrical thalamic lesions (STL) are reported.
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PMID:Symmetrical Thalamic Lesions in the Newborn: A Case Series. 3091 69