Neuropadiatrie最新文献

{"title":"Normality and normalization as seen in a long-term neurological follow-up of 286 truly premature infants.","authors":"S Saint-Anne Dargassies","doi":"10.1055/s-0028-1085327","DOIUrl":"https://doi.org/10.1055/s-0028-1085327","url":null,"abstract":"an extensive follow-up period the method used is specially The normal or normalized prematures: the point of definitive normalization seldom occurred precociously and seldom belatedly Belated normalization may be hoped for in either great frequency of isolated minor defects: subnormal prematures: characteristics of this definitive subnormality associated with minor defects:","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 3","pages":"226-44"},"PeriodicalIF":0.0,"publicationDate":"1979-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085327","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11786437","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}

{"title":"Glycine encephalopathy.","authors":"B Dalla Bernardina,&nbsp;J Aicardi,&nbsp;F Goutières,&nbsp;P Plouin","doi":"10.1055/s-0028-1085326","DOIUrl":"https://doi.org/10.1055/s-0028-1085326","url":null,"abstract":"<p><p>4 cases of nonketotic hyperglycinemia (glycine encephalopathy), one with autopsy, are presented and the literature on 61 cases is reviewed. Major clinical signs include early hypotonia, lethargy and erratic and massive myoclonias with respiratory distrubances, starting during the first days of life after a symptom-free interval. Early death is common. Survivors are severely retarded and exhibit various types of seizures including infantile spasms. The EEG pattern consists initially of periodical paroxysmal bursts on an almost flat tracing, evolving later into a hypsarrhythmic pattern. Spongiosis of the myelinated pathways is the main pathological finding. Elevated CSF glycine seems to be the essential determinant of the neurological disturbances and it is, therefore, suggested that the term glycine encephalopathy be used instead of non-ketotic hyperglycinemia. A classification of disorders associated with hyperglycinemia is proposed.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 3","pages":"209-25"},"PeriodicalIF":0.0,"publicationDate":"1979-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085326","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11786436","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}

{"title":"Shunt metastases in posterior fossa tumors.","authors":"R W Oberbauer,&nbsp;H Tritthart,&nbsp;P W Ascher,&nbsp;G F Walter,&nbsp;H Becker","doi":"10.1055/s-0028-1085332","DOIUrl":"https://doi.org/10.1055/s-0028-1085332","url":null,"abstract":"<p><p>Permanent (CSF-drainages for treatment of hydrocephalus in posterior fossa tumors have been used in the last few years, increasingly. The rare incidence of extracranial metastases and it's higher frequency in the same period of time has been remarkable. An additional case of metastasis via ventriculoperitoneal shunt is presented. Such deleterious complications of malignant CNS-tumors should be avoided, as progressively improving results with combined radio-chemotherapy have established a more encouraging prognosis.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 3","pages":"296-300"},"PeriodicalIF":0.0,"publicationDate":"1979-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085332","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11786311","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}

{"title":"Faecal excretion of non-disintegrated retard-coated dragees of sodium valproate (ergenyl retard)","authors":"H Bartels,&nbsp;H D Oldigs,&nbsp;S Wallis","doi":"10.1055/s-0028-1085333","DOIUrl":"https://doi.org/10.1055/s-0028-1085333","url":null,"abstract":"","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 3","pages":"301-2"},"PeriodicalIF":0.0,"publicationDate":"1979-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085333","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11594615","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}

{"title":"Electron microscopy of skin and peripheral blood lymphocytes in infantile (Santavuori) neuronal ceroid lipofuscinosis.","authors":"M E Haynes,&nbsp;J I Manson,&nbsp;R F Carter,&nbsp;E Robertson","doi":"10.1055/s-0028-1085328","DOIUrl":"https://doi.org/10.1055/s-0028-1085328","url":null,"abstract":"<p><p>Skin punch biopsies and peripheral blood lymphocyte preparations from two siblings with early infantile (Santavuori) neuronal ceroid lipofuscinosis have been examined by electron microscopy. In both cases characteristic osmiophilic inclusion bodies were found in various cells in the skin and in lymphocytes. In one case, lymphocyte inclusions were detected before the onset of any symptoms as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients with a view to early detection of the disorder.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 3","pages":"245-63"},"PeriodicalIF":0.0,"publicationDate":"1979-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085328","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11443217","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}

{"title":"Variation of phenotype in Charcot-Marie-Tooth disease.","authors":"R S Baker,&nbsp;A R Upton","doi":"10.1055/s-0028-1085331","DOIUrl":"https://doi.org/10.1055/s-0028-1085331","url":null,"abstract":"Charcot-Marie-Tooth Charcot-Marie-Tooth","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 3","pages":"290-5"},"PeriodicalIF":0.0,"publicationDate":"1979-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085331","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11786310","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}

{"title":"[Prognosis of brain injuries in young children (one until five years of age) (author's transl)].","authors":"H Lange-Cosack,&nbsp;B Wider,&nbsp;H J Schlesener,&nbsp;T Grumme,&nbsp;S Kubicki","doi":"10.1055/s-0028-1085318","DOIUrl":"https://doi.org/10.1055/s-0028-1085318","url":null,"abstract":"Brink Gros","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 2","pages":"105-27"},"PeriodicalIF":0.0,"publicationDate":"1979-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085318","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11334854","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}

{"title":"Neonatal non-ketotic hyperglycinemia: a clinical, biochemical and neuropathological study including electronmicroscopic findings.","authors":"A Brun,&nbsp;M Börjeson,&nbsp;B Hultberg,&nbsp;S Sjöblad,&nbsp;H Akesson,&nbsp;E Litwin","doi":"10.1055/s-0028-1085325","DOIUrl":"https://doi.org/10.1055/s-0028-1085325","url":null,"abstract":"<p><p>In a family of four children, three died within 8 days after birth. The fourth child survived after a critical first week with the same symptoms as the siblings. He was at the age of four found to have non-ketotic hyperglycinemia. The histories and neuropathology of the other children were then reexamined. It seems highly probable that all siblings suffered from non-ketotic hyperglycinemia. This report points to the clinical, biochemical and neuropathological diagnostic problems in this disease and also adds new information on the ultrastructural changes, not hitherto visualized.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 2","pages":"195-205"},"PeriodicalIF":0.0,"publicationDate":"1979-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085325","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11789360","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}

{"title":"Dissociated motor development--developmental patterns, clinical characteristics, causal factors and outcome, with special reference to late walking children.","authors":"A Lundberg","doi":"10.1055/s-0028-1085323","DOIUrl":"https://doi.org/10.1055/s-0028-1085323","url":null,"abstract":"<p><p>Dissociated motor development, defined as marked gross motor delay without any abnormal neurological signs and contrasting to a normal fine motor-adaptive performance, was studied prospectively in a consecutive in a consecutive series of 78 children, 48 girls and 30 boys, aged 7-23 months at first examination. When 17 months of age, 10 of them had become normalized, and in further three a disability explaining their gross motor delay had been diagnosed. At an average age of 4.2 years, the remaining 65 late walkers were, regardless of cause and developmental and neurological findings at final follow-up, characterized by a number of deviating clinical features as muscular hypotonia (71%), shuffling (51%) and dissociated or late pattern of learning to sit (79%). In 30 out of 65 late walkers (46%) a defined clinical condition of probable pathogenetic implication was found. In 35 out of 65 late walkers (54%), no explaining clinical condition was found. They have been designed to be idiopathic late walkers. Except for muscular hypotonia, present in 77%, conventional neurology was normal in this group. Minor neurological signs such as a positive Foerster sign, defect balance reactions in standing, or asymmetry in prewalking locomotion were, however, occasionally and temporarily observed. Girls were overrepresented among idiopathic late walkers, 69% compared to 43% among the symptomatic late walkers. Complete normalization was more common in the idiopathic group (66%) than in the symptomatic group (27%). Early differentiation between the late walkers who were normalized and those who developed mild mental retardation or neurological handicaps was difficult but not quite impossible. Heredity for shuffling, a non-revealing pre- and perinatal history, a developmental pattern of late learning to sit, and shuffling favoured a normal outcome. Creepers with a dissociated pattern of learning to sit and crawlers with muscular hypotonia were found to have an increased risk for later handicap.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 2","pages":"161-82"},"PeriodicalIF":0.0,"publicationDate":"1979-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085323","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11789358","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}

{"title":"Dipropylacetate and hyperglycinemia.","authors":"S Similä,&nbsp;L von Wendt,&nbsp;S L Linna,&nbsp;A L Saukkonen,&nbsp;I Huhtaniemi","doi":"10.1055/s-0028-1085322","DOIUrl":"https://doi.org/10.1055/s-0028-1085322","url":null,"abstract":"<p><p>Hyperglycinemia was induced by dipropylacetate (DPA) (dose 14-41 mg/kg per day) in 10 Finnish epileptic patients with neurologically disabling diseases of various kinds. When comparing the levels of glycine in plasma, cerebrospinal fluid and urine from the patients with 10 otherwise comparable patients, and normal values there was a fourfold excretion of glycine in urine. All the treated patients had elevated CSF (49 +/- 23 mumol/l) and plasma (475 +/- 76 mumol/l) glycine concentrations. The plasma/CSF glycine ratio was not influenced by the treatment. In comparison with corresponding values in nonketotic hyperglycinemia and ketotic hyperglycinemia, this condition probably arises in a manner similar to secondary hyperglycinemia in organic aciduria. DPA probably influences metabolism in a way similar to some metabolites of amino acids in organic acidurias.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 2","pages":"158-60"},"PeriodicalIF":0.0,"publicationDate":"1979-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085322","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11594153","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}