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

Concerning the clinical signs and symptoms, we noticed skin white macula in 87%, adenoma sebaceum in 53%, mental retardation in 75%, retinal phacoma in 54% and seizure in 92%. Numbers of nodules ranged from zero to 11, and showed no correlation with aging. Half of the cases showed slight ventricular dilatation, one quarter showed moderate dilatation and the remainder were normal. There was no definite correspondence between size of the ventricle and number of nodules. There were relatively many cases with normal mental state in the group with normal ventricles. In adult cases a large ventricle does not always mean poor prognosis in mental state. Almost all of the cases with cortical atrophy had mental retardation. In the group with moderate dilatation infantile spasms were the most frequent type of seizure. On the contrary, grand mal was most frequent in the normal group. As for the position of nodules there was no difference between the normal and dilated groups. Nodules were predominantly seen in the lateral aspect of the body, trigone of the lateral ventricle and adjacent to the foramen of Monro. Asymmetrical lateral ventricles were noticed in 18%. Incidence of laterality increased as dilatation proceeded. It was larger on the left side in 9 out of 11 cases. We have no reasonable explanation of this tendency. There was one case with a tumor which was verified by enhanced CT. There were five cases with brain anomalies.
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PMID:Computed tomography in tuberous sclerosis--with special reference to relation between clinical manifestations and CT findings. 31 69

Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. It is inherited as an autosomal recessive trait with a worldwide distribution. The major clinical manifestations result from the elevated plasma homocysteine level. The excitotoxic effect of homocysteic acid accounts for mental retardation and seizures. Interference with collagen cross-linking by sulfhydryl groups of homocysteine causes ectopia lentis and skeletal deformities. Sulfation factor-like effects contribute to disruption of vascular endothelium, which is followed by platelet thrombosis and widespread arterial and venous occlusions. Low methionine homocystinuria, with deficient remethylation of homocysteine, results from deranged vitamin B(12) metabolism and from deficient 5,10-methylene-tetrahydrofolate reductase. Administration of azaribine produces homocystinuria by mechanism not yet elucidated.
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PMID:Homocystinuria: pathogenetic mechanisms. 32 77

Clinical features were studied in 83 patients with slow spike-wave activity in the EEG. Epileptic seizures, usually intractable, occurred in 82 patients. The majority had the onset of seizures during the first 2 years of life. Minor motor seizures alone or in combination with other types of seizures occurred in 80 percent, and most had more than one type of seizure. The combination of tonic-clonic, minor motor, and absence seizures was the commonest, occurring in 37 percent. Sixty-six patients were definitely retarded and 49 showed definite motor impairment. Etiologic factors responsible for cerebral insult were identified in 53 patients. Serial EEG studies showed a close relationship between the EEG patterns of hypsarrhythmia, independent multifocal spike discharges, and slow spike-wave activity. The eponym "Lennox-Gastaut" syndrome is appropriate for a patient who has slow spike-wave activity in the EEG, exhibits mental retardation, and has intractable seizures of various types. However, the syndrome does not imply a pathologic entity because many diverse processes, both static and progressive, can produce this syndrome.
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PMID:Slow spike-wave activity in EEG and associated clinical features: often called 'Lennox' or "Lennox-Gastaut' syndrome. 40 85

Aicardi's syndrome consists of abnormalities of the ocular fundus, myoclonic seizures, mental retardation, and congenital malformations of the brain and vertebral column in females. The pathognomonic chorioretinal lesions were noted on ophthalmologic examination of a 22-month-old girl, observed for 19 months with severe myoclonic seizures and profound mental retardation. Computerized tomography confirmed major malformation of the brain. Roentgenograms showed anterior fusion of two thoracic vertebrae. Electroretinography was normal, but visual evoked responses were abnormal. Only 72 children are known to have this syndrome; no affected siblings have been reported. The absolute sex limitation--all cases have been female--suggests that the disorder is produced by a mutation on one of the X chromosomes, and is nonviable in male conceptuses. These genetic considerations dramatically influence counseling of parents regarding likelihood of occurrence of the syndrome in subsequent offspring.
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PMID:Aicardi's syndrome. Case report, clinical features, and electrophysiologic studies. 41 7

We report a further case of trisomy 4p: a 5-year-old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11 male, 16 female, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently "total" trisomy of the short term arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the "pure" trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.
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PMID:The trisomy 4p syndrome: case report and review. 41 13

Transient erythrocytosis during the neonatal period may result in serious complications. Among the well recognized problems are respiratory distress, acute heart failure, and death. Little attention has been ascribed to the neurologic complications of a high hematocrit level in the neonatal period. This report describes four pediatric patients with neurologic deficits presumably due to transiently high hematocrit levels during the neonatal period. The neurologic findings in these patients were consistent with the general diagnosis of cerebral palsy. We hypothesize that they may be representative of a group of patients with seizures, structural central nervous system defects, and/or mental retardation secondary to transient erythrocytosis. Moreover, prompt recognition and treatment of this hematologic finding may prevent the immediate or late appearance of such neurologic findings.
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PMID:Transient erythrocytosis during the neonatal period: possible neurologic compications. 45 51

A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum, hypertelorism, small nose, bilateral inguinal hernias, postaxial polydactyly of all limbs and duplication with syndactyly of the big toes. His development was marked by growth retardation, repeated infections, cyanotic spells, seizures, and gross motor and mental retardation. This case probably represents a newly recognized malformation syndrome of hitherto unknown etiology.
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PMID:Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? 45 30

A patient is reported with seizures, developmental delay, and minor physical anomalies. Karyotype showed a ring formation of chromosome number 20. Previously reported patients with this chromosomal aberration have typically had seizures and behavioural disorders with considerable variation in the degree of physical abnormality and mental retardation. A correct diagnosis in such a case is important for accurate genetic counselling.
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PMID:Ring 20 chromosome in a child with seizures, minor anomalies, and retardation. 47 36

1) Of 267 patients with epilepsy who were examined in our clinic during the period between 1964 and 1966, 97 were investigated in a 10-year follow-up study. The patients were selected according to the following criteria: the age of onset of seizures was 10 years or older and the follow-up period was 10 years after the onset of seizures. Of the 97 patients, 36 were followed up by mail. 2) In the adult 10-year follow-up study, seizures disappeared in 43.3%, decreased in 34.0%, remained unchanged in 16.5%, and were aggravated in 6.2% of the 97 patients. Comparing the five-year follow-up study with the present study, the rate of cases which were free of seizures for three years was 22.7% in the five-year study and 43.3% in this study. The seizures were controlled for at least three years in 22.9% of the cases with partial seizure and in 63.3% of the cases with generalized seizure. The worst prognoses were found in cases with versive seizure in which the seizure was unchanged and/or aggravated in 4 (44.4%) of 9 cases. Of 16 cases with psychomotor seizure, 25% were unchanged or aggravated. 3) Comparing the impaired consciousness seizure with the psychomotor seizure, there was a tendency for the psychomotor seizures to remain as a single type of partial seizure, while the impaired consciousness seizure tended to develop easily into a secondarily generalized seizure. 4) Of the 97 patients, three were personality disorders in 19 cases (19.6%), episodic psychotic state in 2 cases (2.1%), and mental retardation in 6 cases (6.2%). Disorders of mood, irritability and explosiveness associated with personality disorders were improved in three of six cases whose seizures disappeared. Personality disorders were found in half of those cases with partial complex seizures. No correlation was found between mental symptoms and the prognosis of seizures. 5) The EEG was improved in 15 (27.8%) of a total of 54 cases, unchanged in 35 (64.8%) and aggravated in 4 (7.4%). In comparing the prognosis of clinical seizure with changes in the EEG, the seizures improved in 40 (74.1%) of the cases, whereas the EEG improved in only 15 (27.8%) of 54 cases. Most of the clinical seizures were controlled or decreased, whether the EEG improved or not.
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PMID:A 10-year follow-up study of 97 epileptics. 47 91

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.
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PMID:Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters. 48 29


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