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)

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.
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PMID:[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]. 11 1

The clinical, laboratorial and radiological features of a 3-month-old child with neurocutaneous melanosis are described. The patient was born with multiple disseminated benign cutaneous nevi, proven by skin-biopsy, and presented with drug-resistant seizures and psycho-motor retardation. Serial cerebrospinal fluid studies showed high protein and low glucose levels, with pleocytosis and malignant cells in the fluid. Pneumoencephalogram showed mild non-obstructive hydrocephalus. Immunological studies showed normal immunological activity at three months of age and very poor activity at one year. The patient died at 16 months of age, after the sudden onset of intracranial hypertension and meningeal signs. Immunotherapy and chemotherapy were suggested but not accepted by the family. Some comments are made based on this and other 43 cases described in the literature; the value of laboratory studies in detecting malignant transformaiton in the meninges in patients with benign skin nevi is stressed.
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PMID:[Neurocutaneous melanosis. Report of a case]. 65

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

Three boys with hemimegalencephaly are reported. Two suffered neonatal convulsions and the third presented with seizures at seven months. In each case the EEG was grossly abnormal, with spike and wave activity. All three have significant developmental delay and demonstrate other manifestations of the condition: macrocephaly in two, contralateral hemiparesis in one and one boy has ipsilateral facial hemihypertrophy and linear naevus. Hemimegalencephaly can be recognised on cranial ultrasonography, and the seizures may respond to benzodiazepine therapy.
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PMID:Hemimegalencephaly: diagnosis and treatment. 190 3

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

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


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