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Neuropadiatrie最新文献

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Neonatal seizures and brain growth. 新生儿癫痫和大脑发育。
Neuropadiatrie Pub Date : 1978-08-01 DOI: 10.1055/s-0028-1091482
C G Wasterlain
{"title":"Neonatal seizures and brain growth.","authors":"C G Wasterlain","doi":"10.1055/s-0028-1091482","DOIUrl":"https://doi.org/10.1055/s-0028-1091482","url":null,"abstract":"A significant proportion of patients who develop epileptic seizures in infancy later go on to have learning difficulties in school, and some become institutionalized for mental retardation {Keith 1964, Rodin 1968, Aicardi and Chevrie 1971, Schiottz-Christensen and Bruhn 1973). This contrasts with adult epilepsy where, in the absence of status epilepticus, seizures neither damage the brain nor permanently impair intelligence (Fetterman and Barnes 1934, Lennox I960, Rodin 1968).","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 3","pages":"213-28"},"PeriodicalIF":0.0,"publicationDate":"1978-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091482","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11784332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 52
Myopathy with multiple central cores. A case with hypersensitivity to pyrexia. 多发性中心核肌病。对发热过敏1例。
Neuropadiatrie Pub Date : 1978-08-01 DOI: 10.1055/s-0028-1091484
N Gadoth, D Margalit, Y Shapira
{"title":"Myopathy with multiple central cores. A case with hypersensitivity to pyrexia.","authors":"N Gadoth,&nbsp;D Margalit,&nbsp;Y Shapira","doi":"10.1055/s-0028-1091484","DOIUrl":"https://doi.org/10.1055/s-0028-1091484","url":null,"abstract":"<p><p>An eight-year-old male suffered from long-standing proximal muscle weakness, dramatically aggravated by febrile episodes. Neuromuscular work-up disclosed a myopathy with multiple central cores of non-familial nature. The presence of central cores in this patient as well as in the myopathy of malignant hyperpyrexia might suggest a pathophysiological basis common to both conditions.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 3","pages":"239-44"},"PeriodicalIF":0.0,"publicationDate":"1978-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091484","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11784334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Long term studies of untreated phenylketonuria II: the plasma phenylalanine level. 未经治疗的苯丙酮尿II的长期研究:血浆苯丙氨酸水平。
Neuropadiatrie Pub Date : 1978-08-01 DOI: 10.1055/s-0028-1091486
M W Partington
{"title":"Long term studies of untreated phenylketonuria II: the plasma phenylalanine level.","authors":"M W Partington","doi":"10.1055/s-0028-1091486","DOIUrl":"https://doi.org/10.1055/s-0028-1091486","url":null,"abstract":"<p><p>The plasma phenylalanine level was measured on at least two occasions, usually more, in 81 patients with phenylketonuria on unrestricted diets. The distribution of the individual levels was gaussian and the mean (31 mg/100 ml) did not change significantly over an average span of 12.7 years. Persistent individual differences were found but so were unexpected and inexplicable high or low plasma phenylalanine levels in particular patients. Variations in dietary phenylalanine intake did not explain the differences in plasma phenylalanine levels between individuals. There was no clear relationship between the degree of mental disability and the average plasma phenylalanine except that those with the least brain damage had slightly lower average levels (24.2 mg/100 ml). The difficulties of demonstrating genetic heterogeneity in phenylketonuria are illustrated even though this is likely present. It is argued that the assumption of a direct quantitative relationship between the degree of brain damage and the height of the plasma phenylalanine level is an oversimplification.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 3","pages":"255-67"},"PeriodicalIF":0.0,"publicationDate":"1978-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091486","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11784336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 11
Congenital Pelizaeus-Merzbacher disease (Seitelberger type), malformation and cystic degeneration of the central nervous system. 先天性Pelizaeus-Merzbacher病(Seitelberger型)，中枢神经系统畸形和囊性变性。
Neuropadiatrie Pub Date : 1978-05-01 DOI: 10.1055/s-0028-1091477
O Vuia
{"title":"Congenital Pelizaeus-Merzbacher disease (Seitelberger type), malformation and cystic degeneration of the central nervous system.","authors":"O Vuia","doi":"10.1055/s-0028-1091477","DOIUrl":"https://doi.org/10.1055/s-0028-1091477","url":null,"abstract":"<p><p>The present paper reports on the case of a neonate child with multiple malformations affecting osteogenesis and the central nervous system (microcephaly, pachygyria). Morphologically, myelin staining supplied evidence of the total lack of myelin sheaths (myelin aplasia). The cerebellar cortex was malformed and altered by cystic degeneration. Electron microscopy confirmed the aplasia of the myelin sheaths and revealed the presence of concentric multilamellar formations in the glial cells (myelination glia), and in areas of cystic degeneration. The morphologic aspects clearly showed the relationship of this congenital aplasia of the myelin sheaths with the congenital Pelizaeus-Merzbacher disease (Seitelberger type). The cystic degeneration differs from the spongy degeneration of the brain (van Bogaert-Bertrand disease) and should be considered a result of maldeveloped nervous tissue.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 2","pages":"172-84"},"PeriodicalIF":0.0,"publicationDate":"1978-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091477","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11784576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Hereditary mirror movements--a case report. 遗传镜像运动——一个病例报告。
Neuropadiatrie Pub Date : 1978-05-01 DOI: 10.1055/s-0028-1091479
P Rasmussen, E Waldenström
{"title":"Hereditary mirror movements--a case report.","authors":"P Rasmussen,&nbsp;E Waldenström","doi":"10.1055/s-0028-1091479","DOIUrl":"https://doi.org/10.1055/s-0028-1091479","url":null,"abstract":"<p><p>A five-year-old girl with abnormal mirror movements is described. The phenomenon is observed in the distal parts of the extremities and is most marked in the hands. An extensive neuropediatric examination including computerized tomography of the brain has not revealed any further abnormalities, nor has it been possible to identify the pathogenetic mechanism. The clinical picture corresponds to that previously reported in cases of hereditary mirror movements--a condition with unknown pathogenesis affecting individuals that in other respects are neurologically normal. The disorder is considered to be dominantly inherited but in this case available data suggest a recessive mode of inheritance. There is no doubt that the girl of this report is getting increasingly embarrassed by her condition. Obviously mirror movements of this degree constitute a slight to moderate handicap.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 2","pages":"189-94"},"PeriodicalIF":0.0,"publicationDate":"1978-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091479","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11784578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Benign familial neonatal convulsions. 良性家族性新生儿惊厥。
Neuropadiatrie Pub Date : 1978-05-01 DOI: 10.1055/s-0028-1085421
D Carton
{"title":"Benign familial neonatal convulsions.","authors":"D Carton","doi":"10.1055/s-0028-1085421","DOIUrl":"https://doi.org/10.1055/s-0028-1085421","url":null,"abstract":"A male neonate presented with very frequent seizures, from the second day of life until the age of two weeks. Subsequently, convulsions did not recur. The patient, 7 years of age at present, has developed normally. Family history revealed transient neonatal convulsions in 8 other family members. The condition is inherited as an autosomal dominant trait.","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 2","pages":"167-71"},"PeriodicalIF":0.0,"publicationDate":"1978-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085421","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11783738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 18
Organoid nevus syndrome in a neonate with hemimacrocephaly. 类器官痣综合征与新生儿半头畸形。
Neuropadiatrie Pub Date : 1978-05-01 DOI: 10.1055/s-0028-1091480
E Boltshauser, F Navratil
{"title":"Organoid nevus syndrome in a neonate with hemimacrocephaly.","authors":"E Boltshauser,&nbsp;F Navratil","doi":"10.1055/s-0028-1091480","DOIUrl":"https://doi.org/10.1055/s-0028-1091480","url":null,"abstract":"Barth et al. (Neuropadiatrie 8: 418— 428, 1977) have drawn attention to the organoid nevus syndrome and the association with hemimacrocephaly. We would like to describe briefly a similar more striking case. The family history is not relevant. The mother had Australiaantigen positive hepatitis from 24th to 26th week of pregnancy. Delivery at term was by Caesarian section because of cephalopelvic disproportion; the biparietal diameter of the head measured by ultrasound was markedly enlarged. Apgar score was 4 at one minute and 8 at ten minutes. Birth weight was 3700 grams. Head circumference was 45 cm (markedly above 97th percentile). The infant, a female, had striking left-sided","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 2","pages":"195-6"},"PeriodicalIF":0.0,"publicationDate":"1978-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091480","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11784579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 16
Further observations on the use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome. 5-羟色氨酸在Lesch-Nyhan综合征患儿中的应用的进一步观察。
Neuropadiatrie Pub Date : 1978-05-01 DOI: 10.1055/s-0028-1085420
T F Anders, H M Cann, R D Ciaranello, J D Barchas, P A Berger
{"title":"Further observations on the use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome.","authors":"T F Anders,&nbsp;H M Cann,&nbsp;R D Ciaranello,&nbsp;J D Barchas,&nbsp;P A Berger","doi":"10.1055/s-0028-1085420","DOIUrl":"https://doi.org/10.1055/s-0028-1085420","url":null,"abstract":"<p><p>The effects of 5-hydroxytryptophan (5-HTP), a serotonin precursor, and carbidopa, a peripheral aromatic amino acid decarboxylase inhibitor, were studied in a boy with the Lesch-Nyhan syndrome. No effects on the self-mutilating behaviors of this disorder were noted. However, sleep patterns were normalized, with a reduction in the proportionate amounts of wakefulness and an augmentation of active sleep. A sharp reduction in waking behavioral dyskinesias was also correlated to increased drug dosage.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 2","pages":"157-66"},"PeriodicalIF":0.0,"publicationDate":"1978-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085420","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11522291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 31
Pseudohydrocephalus-megalocephaly, increased intracranial pressure and widened subarachnoid space. 假性脑积水-大头症，颅内压增高，蛛网膜下腔加宽。
Neuropadiatrie Pub Date : 1978-05-01 DOI: 10.1055/s-0028-1085418
A Sahar
{"title":"Pseudohydrocephalus-megalocephaly, increased intracranial pressure and widened subarachnoid space.","authors":"A Sahar","doi":"10.1055/s-0028-1085418","DOIUrl":"https://doi.org/10.1055/s-0028-1085418","url":null,"abstract":"<p><p>Seven children with rapid enlargement of the head and other clinical features resembling hydrocephalus are described. All children remained with relatively large heads, developed slowly and all but one had various degrees of mental and motor handicaps. The EEG was disturbed in all cases; two children developed seizures. Increased intracranial pressure was present. In all patients the subarachnoid space was markedly widened while the ventricular system was normal or minimally dilated. The characteristics of this syndrome, the features distinguishing it from similar conditions as well as its possible mechanism are discussed.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 2","pages":"131-9"},"PeriodicalIF":0.0,"publicationDate":"1978-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085418","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11783736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 52
Febrile convulsions followed by nonfebrile convulsions: analysis based on a maximum likelihood method and discriminant function. 热性惊厥继之以非热性惊厥:基于最大似然法和判别函数的分析。
Neuropadiatrie Pub Date : 1978-05-01 DOI: 10.1055/s-0028-1085414
T Tsuboi, K Yamamura
{"title":"Febrile convulsions followed by nonfebrile convulsions: analysis based on a maximum likelihood method and discriminant function.","authors":"T Tsuboi,&nbsp;K Yamamura","doi":"10.1055/s-0028-1085414","DOIUrl":"https://doi.org/10.1055/s-0028-1085414","url":null,"abstract":"<p><p>Two hundred sixty-two nontreated patients with febrile convulsions only and 107 with later nonfebrile convulsions were analyzed based on a maximum likelihood method and discriminant function. The formula for discrimination is as follows: y = 2.9193 x (basic EEG abnormality at the first examination) + 2.2134 x (more than 20 minutes in duration of convulsion) + 1.7358 (fever under 38.4 degrees C before convulsion) + 1.7005 x (specific EEG abnormality at the first examination) + 1.6703 x (more than 5 recurrences) + 1.5610 x (over 4 years of age at the last convulsion) + 1.4921 x (exogenous causes) + 0.3741 x (family histroy of febrile convulsions among second or third relatives)--3.0397. If an item is positive, coefficient x 1 is to be used, and if it is negative, coefficient x 0 is to be applied. When one classifies patients with y greater than 0 as the FCC group, and those with y less than 0 as the FC group, misclassification may be theoretically expected in 18.9% of cases (accuracy in 81.1%).</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 2","pages":"103-8"},"PeriodicalIF":0.0,"publicationDate":"1978-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085414","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11783731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
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