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)

A unique association of Sturge-Weber syndrome and atlanto-occipital assimilation is presented. A 18-year-old male was admitted in emergency because of the sudden severe headache and vomiting. He had vascular nevus in the right half of the face at birth and several episodes of generalized convulsive seizures. On admission craniogram demonstrated calcification in the right occipital area. Neurological examination revealed tenderness in the nuchal region, moderate limitation of cervical mobility in a antero-posterior direction, Bruns-Cushing type nystagmus, bilaterally diminished gag reflex, and positive Romberg's test. Spinal tap showed crystal clear CSF with normal pressure. EEG showed paroxysmal slowing focus in the right parieto-occipital area. Polytomography of the craniovertebral junction demonstrated the unilateral atlanto-occipital assimilation on the left associated with the aplasia of the right posterior arch. Myelography was negative. A right carotid angiography disclosed the dilatation of the basal vein of Rosenthal and abnormal venous vasculature. CT-scan demonstrated the calcified region of the right occipital area more distinctly than the plain roentogenogram, but the enhancement study of the leptomeningeal angioma of the Sturge-Weber syndrome was negative. Never been found this rare association in a review of the literature, the authors discussed the clinical and radiological findings of both diseases.
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PMID:[Sturge-Weber syndrome associated with atlanto-occipital assimilation: a report of a case (author's transl)]. 68 66

A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Galen malformation. Hemangiomas that grossly resembled the skin lesions of BRBNS were seen on the cerebral surface. Many of these hemangiomas were thrombosed and overlay patchy zones of infarction. Numerous vascular malformations of varying histological types were also found within the brain and systemic organs. Bluish, compressible, often raised hemangiomas of the skin should alert physicians to the BRBNS and the potential for vascular malformations ot occur within the brain as well as systemic organs. Diagnosis of BRBNS involving the brain may assist in interpretation of radiographic findings. The tendency of these malformations to thrombose may account for focal neurological deficits.
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PMID:Blue rubber bleb nevus syndrome with CNS involvement and thrombosis of a vein of galen malformation. 72 30

Four members of a family with an autosomal dominant form of cerebellar degeneration all had slow eye-movements, i.e. slow pursuit with absence of both nystagmus and rapid saccadic movements. Three showed progressive mental deterioration. One patient had nevus of Ota (oculodermal melanocytosis) and a history of grand mal epilepsy. In these four patients the symptoms first occurred between the ages of 10 and 31 years--the onset apparently appearing earlier with successive generations. Current studies implicate a brain-stem lesion of the paramedian pontine reticular formation in the pathogenesis of the oculomotor abnormality. The possibility of a neurocutaneous syndrome, specifically a 'melanophakomatosis', in the patient with seizures and nevus of Ota is discussed; however, absence of these findings in other affected relatives makes a fortuitous association more probable. The literature on nevus of Ota associated with neurological disease is considered.
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PMID:Familial cerebellar degeneration with slow eye-movements, mental deterioration and incidental nevus of ota (oculo-dermal melanocytosis). 93 51

The effects produced by IP administration of these three agents in the rat were compared because of in vitro evidence that each modulates the picrotoxinin site of the GABAA receptor. For each, hypothermia had the lowest threshold and convulsions the next, with hypophagia produced only by the highest dose of either Ro 5-4864 or lindane. Convulsant effects had a shorter latency and a shorter duration than did hypothermia. Hypophagia, when present, lasted the longest. Myoclonus was the seizure type with the lowest threshold for all three agents. At the highest dose, lindane produced a high incidence of maximal clonic (hopping) seizures, whereas Ro 5-4864 and picrotoxin produced a high incidence of maximal tonic seizures instead. On a mole/kg basis, picrotoxin was 40 times more effective than the other two agents and produced seizures which started later, peaked later, and persisted longest. Ro 5-4864 and lindane were effective at equimolar concentrations and, in combination, produced effects which suggested either dose-addition or synergism. The data are consistent with the hypothesis that the toxic effects of both Ro 5-4864 and lindane may be attributable, at least in part, to an action at a subpopulation of GABAA receptors.
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PMID:Toxicokinetics of Ro 5-4864, lindane and picrotoxin compared. 171 99

In two pregnant women the diagnosis fetal triploidy was made by transabdominal villous biopsy at 20 and 21 weeks. Chromosomal analysis revealed a 69, XXX respectively 69, XXY karyotype. The diagnosis was suspected because of fetal growth retardation and a large vesicular placenta on sonographic examination. One patient had bilateral multilocular ovarian cysts. She had an eclamptic seizure at 22 weeks. In both patients labour was induced by intravenous prostaglandins. One fetus had a small spina bifida, the other fetus had no congenital malformations. Microscopy of both placentas showed a partial mole. A short description is given of the abnormalities associated with triploidy.
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PMID:[Prenatal diagnosis of triploidy]. 217 44

Recently presented data have allowed us to detect an increasing number of cases which present bilateral occipital calcifications and epilepsy or migraine. They have been indicated for the most part to have atypical forms of Sturge-Weber disease without facial nevus flammeus. Two pediatric patients are dealt with here, who, while presenting some differences from the electroclinical point of view, are characterized by typical cortico-subcortical bilateral occipital growing calcifications. Generally, other authors consider the first phase of this syndrome to comprise benign development; only in a second phase does worsening of the fits follow, as well as a bad prognosis. On the contrary, in our case up to now, the patients have been well; the seizures are under control with AEDs and EEG has not worsened, in spite of growing occipital calcifications.
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PMID:Growing bilateral occipital calcifications and epilepsy. 240 6

A 1-year old girl having a giant pigmented nevus over trunk and widespread smaller pigmented nevi presented with focal motor seizures. This combination of features is rate.
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PMID:Giant pigmented nevus with focal motor seizures. 251 90

We observed 4 children with hemimegalencephaly, (3 boys, 1 girl aged 3-7 years). One child had a linear sebaceous nevus. All patients had a similar clinical, EEG, and neuroradiologic pattern. All patients had macrocrania, hemiparesis, hemianopsia, and psychomotor retardation of variable degree. All cases had an epileptic syndrome with onset during the first days or the first months of life. The seizures were consistently similar: partial motor seizures, generally hemiclonic and asymmetric brief tonic seizures, in series, involving predominantly one side of the body, contralateral to the cerebral damage. The EEG was initially characterized by a hemihypsarrhythmia and afterward, over the malformed hemisphere, by a rather high-frequency background activity associated with almost continuous transients of spikes, sharp waves, and spike and waves that progressively involved the contralateral hemisphere. Hemispherectomy was performed in two children with sudden and complete recovery from seizures and improvement in psychomotor development. Macroscopic examination was consistent with the computed tomography (CT) scan and magnetic resonance imaging (MRI) showing pachygyria and poorly represented white matter. Histologic examination showed the characteristic absence of cortical neuronal layering, and the presence of giant neurons, neuronal heterotopias, and gliosis. For hemispherectomy to be successful, we believe prolonged EEG monitoring is needed to verify that no seizures are originating in the normal hemisphere.
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PMID:Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy. 259 46

The main symptom of the organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims-Syndrom) is the nevus sebaceous, which is mostly linear and can be of variable expression. Malformations of the skeletal system and the eyes are usually associated, while malformations of the cardio-vascular system are less common. Neurological findings such as mental retardation and seizures are of clinical relevance. We describe a case and discuss this rare syndrome.
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PMID:[Organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims syndrome): case report and literature]. 264 38

A 5-year-old boy with the epidermal nevus syndrome and hemimegalencephaly is reported. He had pigmented nevi on the forehead and neck, and hemihypertrophy of the body from the birth. He developed intractable seizures, mental retardation, and right hemiparesis. His seizure pattern changed from early infantile epileptic encephalopathy to infantile spasms at 2 months of age. Electroencephalograms showed a suppression-burst pattern in the neonatal period, subsequently changing to hypsarrhythmia. Computerized tomography of the brain disclosed slight dilatation of the posterior horn of the lateral ventricle at the age of 2 months. Later, hemimegalencephaly with calcification on the left side of the brain was noted. Histological examination of the pigmented nevus on the neck showed it to be an acanthosis nigricans-like lesion. Clinical differences between tuberous sclerosis and epidermal nevus syndrome with hemimegalencephaly are discussed.
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PMID:Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body. 275 Oct 68


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