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

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

The main focus of this chapter is the comprehensive description of the neuropathology, the imaging correlates and underlying mechanisms of prenatal stroke. We describe established prenatal stroke in subgroups similar to postnatal stroke: arterial (forebrain or hindbrain) infarction, venous thrombosis, primary lobar haemorrhage. This longitudinal classification should facilitate the study of risk factors and mechanisms. Forebrain lesions of arterial type present as porencephaly, (hemi)hydranencephaly, multicystic encephalopathy or schizencephaly. Venous prenatal forebrain stroke presents as simple porencephaly (in some of genetic nature) and sinus thrombosis. A list of rare porencephaly-like conditions is added for differentiation from arterial and venous porencephaly. Hindbrain infarctions (so far the only reported variants seem to be of arterial nature) present as brainstem disconnection, focal brainstem destruction, uni- or bilateral cerebellar destruction and focal spinal cord ischaemia. Prenatal intracranial haemorrhage and congenital brain infection should be considered in the differential diagnosis of prenatal stroke.
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PMID:Prenatal stroke. 1966 75

MRI and CT are important for the diagnosis and treatment of epilepsy. Diffusion-weighted images are particularly useful for detecting early changes in the brain. In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a reversible splenial lesion), and lesions causing epilepsy and seizures, such as congenital abnormality of the brain (holoprosencephaly, hemimegalencephaly, lissencephaly, heterotopia, polymicrogyria, schizencephaly, and focal cortical dysplasia), neurocutaneous syndromes (tuberous sclerosis and Sturge-Weber syndrome), vascular disorders (moyamoya disease/syndrome and cavernous angioma), and encephalitis/encephalopathy (herpes encephalitis, anti-NMDA receptor encephalitis, acute necrotizing encephalopathy of childhood, and acute encephalopathy with biphasic seizures and late reduced diffusion).
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PMID:[MRI and CT in the diagnosis of epilepsy]. 2491 81