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 practicing pediatrician participated in the evaluation of 21 children with school dysfunction. Diagnoses were coded according to a scheme that included (1) clinical psychiatric syndrome, (2) intellectual level, (3) associated or etiological factors, and (4) academic achievement level. Other members of the team included the school principal, guidance counselor, teacher, nurse, psychologist, social worker, and speech pathologist. The 21 consecutive evaluations were carried out during a 15-month period, comprised 1.5% of the school-age children in the suburban pediatric practice, and accounted for 0.54% of the author's office appointments during the study period. The problems encountered included conduct disorders, specific learning disabilities, mild mental retardation, and seizure disorders. It is suggested that pediatricians may need additional training to participate effectively in this area of school health.
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PMID:Pediatric evaluation of children with school problems. 84 19

We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593-600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.
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PMID:Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. 189 80

This report analyzes a rare case of double athetosis with Bielschowsky bodies. These bodies are pleomorphic intra-neuronal PAS positive deposits mainly found in the lateral palladium of both sides. Clinically the patient was diagnosed as "double athetosis" and mild mental retardation. In her childhood she went through seizure attacks several times. The degree of athetosis was more severe in the upper extremities than in the lower ones. At the age of 25 she died from suffocation. Post-mortem findings: The brain weighed 1520 g. The cerebral cortex and cerebellum were not atrophic and externally not remarkable. Microscopically the most remarkable finding was PAS positive intra neuronal inclusions mainly restricted to the lateral pallidum, which are known as "Bielschowsky bodies." They varied in size and shape, and divided into 2 types according to their structural features. One is rather round type mostly in the intra-neuronal perikarya, and the other is small round but sometimes sausage-like in shape which is thought to be intra-axonal. We investigated the distribution of these deposits in and around the lateral pallidum. The distribution was different between these 2 types, that is, small and intra-axonal inclusions were seen "diffuse" all over the lateral pallidum and a little were in medial lamina which lies between lateral and medial pallidum, while large intra-perikaryal type were strictly restricted in the lateral pallidum and dominantly found near the internal capsule. This patient experienced generalized convulsion several times in her childhood but severe ischemic change was not seen in cerebral structures, especially in the hippocampus. Electron microscopically these bodies consisted of the accumulation of irregular fine fibrils.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Double athetosis with Bielschowsky bodies--their histological features and distribution in the lateral pallidum]. 196 69

A Japanese girl with incontinentia pigmenti had characteristic skin lesions at birth. The diagnosis was confirmed by skin biopsy and positive family history. Her mother and sisters also suffered from IP. She had generalized tonic seizures at 1 month of age, and infantile spasms at 7 months. ACTH therapy was very effective to infantile spasms. At 9 years now, she is suffering from atypical absence, mild mental retardation and mild left hemiparesis. MRI revealed marked atrophy of the cerebral white matter predominantly around the posterior horn of right lateral ventricle, cystic lesions in the white matter around the anterior horns of both lateral ventricles, which were not clear by CT scan, and atrophy of the right cerebral peduncle and pontine basis. Although these findings are non-specific, they may be clues which explicate the mechanism of central nervous system involvement in incontinentia pigmenti.
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PMID:[Cerebral white matter lesions in a case of incontinentia pigmenti with infantile spasms, mental retardation and left hemiparesis]. 204 71

This article presents a 4-year-old boy who suffered from weakness of the right extremities since birth. Physical examination revealed mild mental retardation and right spastic hemiplegia. No seizures were noted. A brain CT scan showed bilateral clefts along Sylvian fissures, more marked on the left side, which communicated with the lateral ventricle. The septum pellucidum was absent. There was an evident squaring of the frontal horns. The CT findings were consistent with the diagnosis of schizencephaly. When a patient with mental retardation and spastic hemiplegia or diplegia fails to show a history of perinatal cerebral insult, the possibility of schizencephaly should be considered. In that case, a brain CT scan is a rapid and accurate diagnostic tool.
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PMID:[Schizencephaly: report of one case]. 263

We report the neuropathologic findings in a 63-year-old white male with a history of birth asphyxia, cerebral palsy, seizures and mild mental retardation in conjunction with similar brain pathologic findings in animal models of perinatal asphyxia. The human case showed a left cerebral hemispheric hemiatrophy associated with an extensive ulegyria involving all cerebral lobes on that side and a single microscopic focus of cortical atrophy in the right hemisphere. Among a large number of experimental perinatal asphyctic exposures only an occasional animal, like the human case described, showed unilateral hemispheric injury with softening and necrosis if examined early and ulegyria with hemispheric hemiatrophy if examined late. The present paper suggests that perinatal asphyxia under specific pathophysiologic conditions may cause unilateral brain injury. Our experimental studies suggest the specific condition of perinatal asphyxia potentially causing unilateral or asymmetrical brain damage is marked hypoxemia combined with substantial reductions in blood pressure but without circulatory collapse. Given these conditions, the asymmetry of the brain damage likely reflects fetal head position within the gravitational field relative to the heart. With disturbed cerebral blood flow autoregulation from asphyxia, the gravitational field likely accentuates the ischemia of those brain areas most elevated above the level of the heart. Thus, we postulate head position may play a pivotal role in defining brain regions that are damaged in hypotensive perinatal asphyxia. This interpretation may affect the intensive care of hypoxemic, hypotensive newborns aimed at minimizing the risk of brain damage.
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PMID:Cerebral hemiatrophy--correlation of human with animal experimental data. 325 12

A second child with a more severe deficiency of malonyl CoA decarboxylase is described. He is mildly mentally retarded and presented with vomiting, a seizure, hypoglycaemia and mild metabolic acidosis during a urinary tract infection. The urine contained increased amounts of malonic, methylmalonic, succinic, adipic, glutaric and suberic acids. Mitochondrial malonyl CoA decarboxylase activity in cultured fibroblast extracts was 4% of the mean control value. A high fat, low carbohydrate diet led to symptomatic hypoglycaemia, a moderate metabolic acidosis and excretion in the urine of large amounts of the same organic acids and 3-hydroxybutyrate. Only relatively small quantities of malonic, methylmalonic and succinic acid were excreted in the urine when the boy was fed an isocaloric low fat, high carbohydrate diet. Acute fat and lysine loads led to increased excretion of malonic acid in the urine without affecting the excretion of the other organic acids. Experience with this patient suggests that malonyl CoA decarboxylase serves an important function in the mitochondrion by preventing accumulation of malonyl CoA. The importance of the enzyme is best seen when fat is the main metabolic fuel. The mechanisms by which malonyl CoA produces its complex metabolic effects remain to be elucidated.
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PMID:Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. 370 68

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

Two children of Austrian Ashkenazic Jewish background, related as second cousins, have a variant of opalescent dentin in their deciduous teeth. This has been classified by Witkop as Brandywine isolate hereditary opalescent dentin and by Shields as dentinogenesis imperfecta type III. One of the children also has dysmorphic facial features, seizures, and severe mental retardation. Her mother has dysmorphic facial features and mild mental retardation. The mothers of both children and several other family members have classic opalescent dentin (dentinogenesis imperfecta type II). Radiographs of the deciduous and permanent dentitions of one mother showed obliterated pulp chambers. Confirmation of obliterated pulp chambers in the deciduous teeth of the mother of a child with Brandywine isolate hereditary opalescent dentin makes it unlikely that classic opalescent dentin and Brandywine isolate hereditary opalescent dentin are separate genetic disorders. Evidence from this family supports the hypothesis that Brandywine isolate hereditary opalescent dentin is a variant of opalescent dentin.
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PMID:An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family. 385 21

We analyzed 320 electroencephalograms done on 60 patients having tuberous sclerosis. The main features in EEGs were diffuse slowing in the background activity, slow spike-wave discharges, focal and multifocal spike discharges, and amplitude asymmetries. No significant changes occurred in EEGs during the follow-up. No characteristic pattern was identified for diagnosing TS. Severe abnormalities were seen in patients who had infantile spasms and frequent seizures, and who were mentally retarded. Slow spike-wave abnormality was less frequent in patients who had mild mental retardation and few seizures. The pathological findings did not offer any clue to the frequently recorded EEG abnormalities.
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PMID:Tuberous sclerosis: long-term follow-up and longitudinal electroencephalographic study. 407 35


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