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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperostotic bone dysplasias are characterized by progressive hyperostosis and sclerosis of the cranium and facial bones. As a result of progressive bony overgrowth, intracranial pressure may increase and lead to brain and nerve compression, cranial nerve palsies, and an increased incidence of seizures. The long bones often exhibit defective modeling as well as variable degrees of metaphyseal and diaphyseal hyperostosis. In addition, the axial skeleton (including the pelvis) is often hyperostotic and sclerotic. The clinical features of these disorders may have relevance to the outcome of pregnancy; however, there are no reports on the management and pregnancy outcome of patients affected with hyperostotic bone disease. In this report, we describe the course of two pregnancies in a woman with craniodiaphyseal dysplasia (a rare craniotubular dysplasia). Prenatal assessment, method of delivery, choice of anesthesia, and neonatal management are discussed. Although this disorder is rare, the pathophysiologic considerations relevant to pregnancy outcome may be applicable to the management of pregnant women with other hyperostotic bone dysplasias.
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PMID:Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia. 198 72

The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.
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PMID:Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. 199 73

Eleven patients with intractable complex partial seizures underwent temporal lobectomy during their first decade. The mean age at onset of epilepsy was two years and at surgery was 5.5 years. On the basis of data from clinical evaluation, CT, MRI in six patients, and pathological examination of excised tissue, the aetiology of the epilepsy was thought to be mesial temporal sclerosis in four children, glioma in five, dysplasia in one and chronic progressive encephalitis in another. At follow-up eight children were seizure-free, two had reduced seizure frequency and only the child with chronic progressive encephalitis had not benefitted from surgery.
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PMID:Temporal lobectomy for the treatment of intractable complex partial seizures of temporal lobe origin in early childhood. 199 6

Moya-Moya disease has been associated to a number of disease entities including Down syndrome. Initial clinical manifestations in our patient were alternating lateralizing seizures with sudden onset hemiparesis. Ct scan demonstrated several infarcts in different stages of evolution, in the territory of left middle cerebral artery. Single digital subtraction angiography showed bilateral occlusion, predominantly on the left side of the supraclinoid portion of the interna carotid arteries with formation of collateral circulation in the diencephalic territory. The association of Moya-Moya disease and Down syndrome is not fortuitous and it is probably due to a congenital vascular dysplasia. It should be suspected in children with trisomy 21 (with or without congenital heart disease) who presents with alternating hemiplegia and convulsions or acute hemiplegia.
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PMID:[Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. Report of a case associated with Down's syndrome]. 228 71

We retrospectively studied 19 cases of occlusive cervical carotid dissection encountered at our hospital between 1974 and 1984 and followed for 5-13 (mean 8.2) years to assess the long-term prognosis of the disease. Five patients had transient ischemic attacks, seven had minor stroke, six had major stroke, and one had epileptic seizures. Angiography demonstrated the typical string sign in 17 cases, a double lumen with occlusion in one, and multiple scalloped narrowings with distal occlusion in the other. Three patients died within 1 month and three remain severely disabled (overall mortality and major morbidity 32%), five have permanent deficits, and seven are neurologically intact; the remaining patient was lost to follow-up. Five patients were treated surgically (two had extracranial-intracranial bypass and three had cervical carotid exploration), and the other 14 were treated medically. The overall rate of reopening was 47% with eight of 10 patients demonstrating recanalization on control angiography and another patient demonstrating recanalization at surgery. These nine patients remain clinically stable on follow-up evaluations. However, vascular abnormalities in the healed arteries were notable and include kinking, fibromuscular dysplasia, dissecting aneurysms, intracranial occlusion, and a residual mural defect.
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PMID:Long-term follow-up of occlusive cervical carotid dissection. 218 3

A progressive demyelinating cerebral disorder is described in a normally-appearing female infant with neonatal seizures, progressive psychomotor deterioration, deafness, retinopathy, peripheral neuropathy and loss of myelin observed on magnetic resonance imaging (MRI) scanning. MRI also showed the absence of macroscopic neocortical dysplasia which is usually found in Zellweger syndrome (ZS). Adrenal cortical function was normal. The patient died at the age of 37 months. Extensive biochemical investigations of peroxisomal functions in the patient revealed an impairment of peroxisomal beta-oxidation resulting in elevated levels of very long (greater than C22) chain fatty acids in plasma and fibroblasts. Moreover, elevated plasma levels of intermediates of bile acid biosynthesis such as tri- and dihydroxycholestanoic acid were found. Other peroxisomal functions were normal. Immunoblotting of the peroxisomal beta-oxidation enzyme proteins in liver from the patient revealed normal responses with antisera against acyl-CoA oxidase, bifunctional protein and thiolase respectively. From these data we conclude that the patient had a deficiency of a single peroxisomal beta-oxidation enzyme at the level of either the bifunctional protein or peroxisomal thiolase with retained immunoreactivity against these enzymes.
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PMID:Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course. 220 66

We report on an infant male who presented with microcephaly of prenatal onset, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy, abnormal eye movements and nystagmus. In addition, he had a skeletal dysplasia with predominant acromelic involvement and a renal disease characterized by both nephritic and nephrotic changes. The natural history of his condition included severe postnatal failure to thrive, lack of development of psychomotor milestones, intractable seizures, terminal renal insufficiency with early death. Such spectrum of phenotypic abnormalities has never been reported before and we suggest that it may represent a new syndromic entity. The differential diagnosis with the oculo-skeletal-renal syndromes, with the osteodysplastic primordial dwarfism of the Taybi-Linder type and with the Hutterite cerebro-osteo-nephrodysplasia, is discussed.
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PMID:A new syndrome with cerebro-oculo-skeletal-renal involvement. 225 Oct 13

Positron emission tomography (PET) of local cerebral glucose metabolism in 13 children with infantile spasms of undetermined cause (cryptogenic spasms) revealed unilateral hypometabolism involving the parieto-occipito-temporal region in 5 female infants. Cranial computed tomography showed normal findings in all infants. Magnetic resonance imaging (MRI) demonstrated a normal appearance in 4 of the 5 infants; in 1 infant, MRI revealed a subtle abnormality consisting of poor demarcation between occipital gray and white matter. Surface electroencephalography (EEG) in 4 showed hypsarrythmia at some time in the patients' courses, but at other times showed localized or lateralized abnormalities corresponding to areas of PET-detected hypometabolism. Because of poor seizure control, 4 infants underwent surgical removal of the cortical focus guided by intraoperative electrocorticography and were seizure free postoperatively. Neuropathological examination of resected tissue in each showed microscopic cortical dysplasia. Our findings indicate that in infants with cryptogenic spasms, PET can effectively identify those due to unsuspected focal cortical dysplasia, for which resective surgery offers improved prognosis.
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PMID:Infantile spasms: I. PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. 199 74

We prospectively evaluated 47 children with neurofibromatosis to determine whether the previously reported high signals on magnetic resonance imaging (MRI) (prolonged T2) correlated with CT, brainstem auditory evoked responses (BAER), EEG, clinical examinations, cognitive abilities, or seizure disorder. Thirty percent of children had a history of seizures and 70% had either learning disabilities or mental retardation. Overall, 74% had an abnormal MRI examination. Sixty-two percent had high signals (prolonged T2) on T2-weighted images. Abnormal signals were located primarily in the basal ganglia, brainstem, and cerebellum. Twenty-five percent of patients had abnormal EEGs, 28% had abnormal CTs, and 27% had abnormal BAER examinations. The abnormal signals on MRI did not consistently relate to findings on CT, BAER, EEG, school placement, or clinical examination. The abnormal signals presumably reflect areas of abnormal brain parenchyma, either hamartomas, heterotopias, or local areas of brain dysplasia.
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PMID:The significance of MRI abnormalities in children with neurofibromatosis. 249 65

A female infant presented with poor feeding, hypotonia, prolonged jaundice, seizure and wandering nystagmus. A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three months. It is stressed that a diagnosis of septo-optic dysplasia must be entertained in infants who present with prolonged jaundice and hypoglycemia, particularly when rotatory nystagmus is associated.
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PMID:Septo-optic dysplasia: report of a case. 263 88


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