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)

Neurological complications of arterial hypertension are analyzed in 31 children (mean age = 9 years). All patients presented a renal or renovascular disease (acute nephritis + hypoplastic dysplasia , transplantation = 58%) for which malignant hypertension was the first symptom in 16%. The mean +/- SD initial blood pressure was 189 +/- 33/113 +/- 25 mm Hg and was preceded by previous symptoms in 1 patient out of 6. Neurological abnormalities consisted in seizures (48%), acute intracranial hypertension (39%), cranial palsy (23%), coma (19%), hemiplegia/paresia (16%), retinal changes (6%) or aphasia (6%). The EEG was abnormal in 50% of the patients, sometimes showing permanent paroxysmal activity. Neuroradiologic investigations revealed hemorrhagic and/or ischemic lesions in 1/5 patients. On follow-up, hypertension disappeared in 41% of the children; a decrease in renal function was noted in 56% of the patients at the last examination; neurological sequellae were present in 40% (EEG anomalies +/- epilepsy, motor deficit, retinal changes, psychomotor delay, cranial palsy) and 1 patient died. The morbidity of malignant hypertension stresses the importance of early diagnosis and treatment (calcium channel blockers) when its prevention is not possible.
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PMID:[Neurologic manifestations of arterial hypertension in children]. 305 3

Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mild progressive hemiparesis. Electrographic investigations showed focal epileptic discharges in the contralateral rolandic areas. Radiological studies were unrevealing, but magnetic resonance showed rolandic lesions in 3 patients. At surgery, abnormally wide gyri were found in the distribution demonstrated by magnetic resonance. The pathological substrate was focal cortical dysplasia. All patients have improved considerably following surgery. These findings suggest that focal myoclonus may be due to a rolandic neuronal migration disorder. Visualization of these lesions by magnetic resonance permits development of a surgical strategy leading to optimal treatment of these medically intractable epileptic disorders.
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PMID:Focal cortical myoclonus and rolandic cortical dysplasia: clarification by magnetic resonance imaging. 313 90

A 21-month-old boy with septo-optic dysplasia and infantile spasms is reported. Eighteen hours after birth he had generalized convulsions, dyspnea, and hypoglycemia which were followed by recurrent clonic seizures despite administration of phenobarbital and valproic acid. At 16 months of age he had hypoglycemia and apnea attacks during varicella infection. At 19 months of age left hemiconvulsions and left hemiparesis occurred; his mental and motor development, which had been delayed but progressive, deteriorated. Tonic spasms appeared at 21 months of age and electroencephalography revealed multifocal spikes. At 27 months of age electroencephalography disclosed hypsarrhythmia. Cranial computed tomography depicted brain atrophy, right microphthalmia, and intact septum pellucidum. Magnetic resonance imaging demonstrated hypoplasia of the corpus callosum and a small pituitary gland. Coloboma of the right optic disc was detected. Physical examination revealed short stature, left hemiparesis, micropenis, and cryptorchidism. Endocrinologic loading tests revealed hypofunction of the hypophysial anterior lobe.
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PMID:Septo-optic dysplasia with infantile spasms. 323 9

Septo-optic dysplasia (De Morsier's syndrome) is a common cause of congenital optic nerve hypoplasia. Associated abnormalities such as hypothalamic/pituitary dysfunction, hypotonia or spasticity, may result in affected children presenting for surgical procedures under general anaesthesia. A 3.5-year-old boy with the undiagnosed condition had his Achilles tendons elongated under an uncomplicated general anaesthetic. The postoperative period was complicated by coma and a major convulsive seizure which responded to glucose and steroids. The importance of awareness of this condition in short children with poor visual acuity who require general anaesthesia is stressed, and the presenting features of seven other cases are demonstrated.
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PMID:Anaesthesia and septo-optic dysplasia. Implications of missed diagnosis in the peri-operative period. 343 62

EEG examinations were carried out on 137 patients with thalidomide embryopathy aged between 7 and 22 with a mean age of 17.0. Waking and sleep EEGs were normal in 82 (59.9%), and abnormal in 55 (40.1%). The incidence of abnormal EEG was significantly high in the patients associated with mental retardation, and it increased in proportion to the severity of mental retardation. The most frequent abnormal EEG finding was slowing of the basic activity (35/137; 24.8%). The incidence of slowing was significantly higher in the patients with a sensorineural hearing impairment (26/74; 35.1%) than in those with dysmelia (9/62; 14.5%). Slowing appeared frequently in the patients with various cranial nerve symptoms (30/84; 35.7%). The incidence of slowing was found significantly high in the patients with borderline or subnormal intelligence (8/16; 50.0%), and it correlated with the severity of mental retardation. Many patients (48/84; 57.1%) showed unilateral or asymmetrical neurological symptoms. However, asymmetry or focal abnormality in EEG was shown in only 8 patients. Positive spikes appeared frequently in the patients with gonadal dysplasia. Other somatic symptoms, past medical history and family history were not related to the incidence of abnormal EEGs. Eight patients had had epileptic seizures prior to this examination. Another 2 patients had nocturnal enuresis and showed epileptic EEG abnormalities in this examination. The incidence of epilepsy was significantly higher in the patients we examined than among the general population. It is concluded that ingestion of thalidomide during pregnancy affected not only the morphological development of the limbs of the fetus, but the functions of its central nervous system, causing hearing impairment, other cranial nerve symptoms, mental retardation or epilepsy.
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PMID:Electroencephalographic study of 137 patients with thalidomide embryopathy. 343 8

We report on 11 cases of isochromosome 12p mosaicism (or Pallister mosaic aneuploidy syndrome) in which the isochromosome is usually absent in cultured lymphocytes but present in fibroblasts. The patients range in age from a 22-week-gestation fetus to a 45-year-old man. They have a distinct pattern of anomalies which enables one to make a diagnosis based on clinical manifestations alone. Craniofacial manifestations include "coarse" face with prominent forehead, sparsity of scalp hair, hypertelorism, epicanthal folds, flat bridge of nose, and highly arched palate. Affected newborn infants are profoundly hypotonic with sparsity of scalp hair especially bitemporally and a prominent forehead. Most have accessory nipples. Birthweight and growth parameters are usually normal; however, some newborn infants are unusually large. In infancy, the facial appearance becomes "coarse," hypotonia persists, and seizures may occur. As adults, growth may be normal, scalp hair is thicker and the mandible becomes prominent. Most have a generalized pigmentary dysplasia which may be evident with a Wood's lamp only. All cases have been sporadic and there is no consistent pattern of advanced parental age.
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PMID:Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. 360 12

Hemimegalencephaly is a rare brain malformation characterized by cerebral asymmetry and cortical dysplasia. Infants with the condition present with early seizures and severe encephalopathy. Five patients were studied with computed tomography and magnetic resonance (MR) imaging. MR imaging was the most efficient diagnostic method for this rare entity. It demonstrated brain hemispheric hypertrophy with lateral ventricle dilatation, abnormal gyral pattern, and a thick cortex on the enlarged side. The images correlate well with the known pathologic data.
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PMID:Hemimegalencephaly: MR imaging in five children. 362 88

A 3-year-old horse presented with intermittent generalized seizures of 2-month duration. During interictal periods, the horse appeared normal and a cause for the seizures could not be identified. Necropsy revealed opacity of the leptomeninges, covering most of one cerebral hemisphere along with thinning and collapse of the cortex in the ipsilateral pyriform lobe. Histopathology demonstrated leptomeningeal vascular proliferation and meningothelial hyperplasia. Prominent tortuous vessels of the gyri and sulci extended into some regions of the subjacent cortex, where there was neuronal loss, ectopia, and disorganization. Clusters of prominent arterioles were found in the sclerotic choroid plexus of the lateral and fourth ventricles. Milder vascular lesions were present in the leptomeninges of the ventral brain stem, right cerebrum, spinal cord, and in the eye. The left trigeminal nerve was distorted by swollen fasicles containing onion bulb-like structures. Most bulbs contained central axons surrounded by myelin sheaths of variable thickness. Electron microscopy demonstrated concentrically arranged cells with continuous basal laminae and rare pinocytotic vesicles. S-100 immunohistochemistry showed strong positive staining in these cells. This is an unusual combination of lesions to which analogies can be drawn with the human neuroectodermal dysplasias, specifically Sturge-Weber disease. The relationship of the neuropathy to the leptomeningeal hemangiomatosis is unclear, but a compound anomaly in embryological development resulting in dysplasia and neoplasia may be involved.
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PMID:Meningocerebral hemangiomatosis resembling Sturge-Weber disease in a horse. 368 94

Foix, Chavany, and Marie described a syndrome of faciopharyngoglossomasticatory diplegia resulting from bilateral anterior opercular infarction. We describe identical twins who have a developmental form of the syndrome. The twins, aged 41 years, were the product of a normal pregnancy and birth, but had subsequent delayed motor milestones, seizures, poor language development, mild mental retardation, drooling, absent gag reflexes, inability to protrude the tongue, brisk jaw jerks, impaired fine finger movements, symmetrical brisk reflexes, flexor plantar responses, and mildly spastic gait. Magnetic resonance imaging showed bilateral perisylvian cortical dysplasia compatible with polymicrogyria and incomplete opercular formation.
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PMID:Developmental Foix-Chavany-Marie syndrome in identical twins. 378 77

A patient with absence of the septum pellucidum, optic hypoplasia, congenital nystagmus, hemiatrophy, and seizures fulfilled clinical and radiological criteria for diagnosis of both septo-optic dysplasia and the syndrome of absent septum pellucidum with porencephalies. The anatomical and clinical similarities between these two syndromes suggest a common embryological basis. Their simultaneous presence in this case further supports this explanation. Clinically mild forms of both septo-optic dysplasia and the syndrome of absent septum pellucidum with porencephalies are now detected with the aid of computed tomographic scanning in patients with unexplained hemiatrophy, congenital nystagmus, seizures, and short stature.
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PMID:Absence of the septum pellucidum. Overlapping clinical syndromes. 402 11


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