NeuropadiatriePub Date : 1978-02-01DOI: 10.1055/s-0028-1085411
I Felding, B Hultberg
{"title":"An atypical form of Sandhoff's disease. Case report and biochemical studies.","authors":"I Felding, B Hultberg","doi":"10.1055/s-0028-1085411","DOIUrl":"https://doi.org/10.1055/s-0028-1085411","url":null,"abstract":"<p><p>A case of Sandhoff's disease (GM2 gangliosidosis type 2) is reported because of an unusual course with later onset of symptoms, more slow progress and longer survival than those previously described. Otherwise the patient presented most of the classical symptoms of the disease with a final state of blindness, deafness and decerebrate rigidity. The residual acidic hexosaminidase isozymes in liver and brain tissue were Hex A and Hex S, while Hex B was barely detectable. The neutral hexosaminidase form called Hex C was also found. Two urinary oligosaccharides containing N-acetylglucosamine and mannose were found to be execreted by the patient.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 1","pages":"74-83"},"PeriodicalIF":0.0,"publicationDate":"1978-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085411","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11248223","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}
NeuropadiatriePub Date : 1978-02-01DOI: 10.1055/s-0028-1085413
M Albani, P A Toseland
{"title":"A simple rapid gaschromatographic method for the determination of theophylline in dried whole blood on filter paper cards.","authors":"M Albani, P A Toseland","doi":"10.1055/s-0028-1085413","DOIUrl":"https://doi.org/10.1055/s-0028-1085413","url":null,"abstract":"In 1973 Kuzemko proposed theophylline for treatment of apnea in preterm infants (1). Ever since it has been widely used for this purpose and its therapeutic benefit for preventing apnea has been established (2, 3). However, pharmacokinetic studies revealed a biological half life several times longer in preterm infants (4) than in older children and adults (5). Therefore, routine monitoring of theophylline blood levels seems essential, the more so since little is known about potentially harmful effects on the developing organism (6). Using a nitrogen-specific detector a rapid simple gaschromatographic method is described which requires for the determination of theophylline only about 35 mg dried whole blood on filter paper cards obtained by capillary blood sampling technique.","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"9 1","pages":"97-9"},"PeriodicalIF":0.0,"publicationDate":"1978-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085413","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11783590","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091529
P Santavuori, R Moren
{"title":"Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjögren type.","authors":"P Santavuori, R Moren","doi":"10.1055/s-0028-1091529","DOIUrl":"https://doi.org/10.1055/s-0028-1091529","url":null,"abstract":"<p><p>A therapeutic trial with antioxidants in neuronal ceroid lipofuscinosis (NCL) of Spielmeyer-Sjögren type is presented. The series consisted of 46 patients, 23 of whom received antioxidants while 23 served as controls. At the start of the trial the patients were classified into two groups on the basis of their IQs. Eleven children, aged 6 1/2 to 12 years, were of low normal or subnormal intelligence (treatment group I). After an observation period of 5 to 6 years a significant change in IQ was seen in 6 children; an improvement was noticed in 2 boys and a deterioration in 4 patients. The IQs were higher, the neurological signs less marked and epilepsy less frequent among the patients receiving antioxidants than among the controls. The therapy did not benefit vision and it was unsuccessful in advanced cases. The results are discussed and compared with those reported by other authors.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"333-44"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091529","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11782260","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091532
V Havlicek, R Childiaeva, V Chernick
{"title":"EEG frequency spectrum characteristics of sleep states in infants of alcoholic mothers.","authors":"V Havlicek, R Childiaeva, V Chernick","doi":"10.1055/s-0028-1091532","DOIUrl":"https://doi.org/10.1055/s-0028-1091532","url":null,"abstract":"<p><p>Infants of alcoholic mothers showed prominent EEG hypersynchrony in all three stages of sleep: in quiet sleep, indeterminate sleep and active-REM sleep. Spectral analysis of the EEG using fast Fourier transform revealed significant increase in power in most frequency bands in all three stages of sleep in infants born to alcoholic mothers when compared with normal healthy infants matched for gestational age. In quiet sleep \"alcoholic\" infants differed from healthy babies by significantly higher power in a wide range of frequency bands (1.5--17.5 Hz) with an average 143% increase of the integrated EEG (1.5--25 Hz). In indeterminate sleep \"alcoholic\" infants showed significantly higher power in all analyzed frequency bands (0.1--25 Hz) with an average 196% increase of the integrated EEG (1.5--25 Hz). In active-REM sleep infants of alcoholic mothers showed significantly higher power in the frequency range from 0.1 to 17.5 Hz in comparison with healthy controls. The average increase of the integrated EEG (1.5--25 Hz) was 200%. All healthy term infants showed significantly higher power in most frequency bands during quiet sleep in comparison with active-REM sleep. In infants born to alcoholic mothers this quiet sleep--REM sleep frequency spectrum difference in the majority of cases was nonsignificant mainly due to high values of the EEG power during REM sleep. It is unlikely that the EEG hypersynchrony in infants of alcoholic mothers represents one of the symptoms of the neonatal alcohol-withdrawal syndrome since hypersynchrony has been detected as long as 6 weeks after birth. During this time any withdrawal symptoms would have been dissipated.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"360-73"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091532","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11417079","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091528
H D Kuhlendahl, G Gross-Selbeck, H Doose, H Klinge, H P Jensen
{"title":"Cranial computertomography in children with tuberous sclerosis.","authors":"H D Kuhlendahl, G Gross-Selbeck, H Doose, H Klinge, H P Jensen","doi":"10.1055/s-0028-1091528","DOIUrl":"https://doi.org/10.1055/s-0028-1091528","url":null,"abstract":"<p><p>20 children with tuberous sclerosis were examined by computertomography (CCT). The test is useful to detect cerebral involvement with great certainty. The method is especially helpful in the early diagnosis of the disease. This offers the possibility of giving an early genetic advice. Characteristic CCT scan abnormalities in tuberous sclerosis are multiple densities in the walls and the roof of lateral ventricles. This specific finding can already be seen prior to the occurrence of calcifications in standard roentgenograms.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"325-32"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091528","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11516764","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091537
P G Barth, J Valk, G L Kalsbeek, A Blom
{"title":"Organoid nevus syndrome (linear nevus sebaceus of Jadassohn): clinical and radiological study of a case.","authors":"P G Barth, J Valk, G L Kalsbeek, A Blom","doi":"10.1055/s-0028-1091537","DOIUrl":"https://doi.org/10.1055/s-0028-1091537","url":null,"abstract":"<p><p>A 3 1/2-year-old boy with this syndrome is reported. The clinical features were: linear organoid nevus, characteristically involving the midline of the face with extension to one side (right side in this case), hemimacrocephaly, mental and motor retardation, epilepsy originating from a focus in the right hemisphere, a malformed hemisphere and ventricular system on the right side on pneumoencephalographic and angiographic study and a hamartoma-like malformation protruding into the frontal horn of the right lateral ventricle.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"418-28"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091537","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11782265","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091533
H G Schlack, H Schmidt-Schuh
{"title":"Neurophysiological and behavioural changes during mental work in children with Down's syndrome.","authors":"H G Schlack, H Schmidt-Schuh","doi":"10.1055/s-0028-1091533","DOIUrl":"https://doi.org/10.1055/s-0028-1091533","url":null,"abstract":"<p><p>Telemetered EEG and ECG were recorded from 18 Down's syndrome children (5;6--11 years) during rest, a visuomotor and a cognitive test, exploration and play. Simultaneously the behaviour was observed and recorded. In comparison with normal children (3;9--5;5 y. resp. 5;6--7;6 y.) the Down's syndrome children showed a low degree of motor activity, reduced attention and exploration and little variation of heart rate in relation to test difficulty. The main findings in the EEG (parieto-occipital recording) were a low amount and a small variability of alpha waves and a high amount of beta waves. This EEG phenomenon which is obviously not due to high activation is discussed with regard to possible connections with defective neurophysiological mechanisms of attention.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"374-86"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091533","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11364500","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091535
M Kyllerman, G Steen
{"title":"Intermittently progressive dyskinetic syndrome in glutaric aciduria.","authors":"M Kyllerman, G Steen","doi":"10.1055/s-0028-1091535","DOIUrl":"https://doi.org/10.1055/s-0028-1091535","url":null,"abstract":"<p><p>A case of glutaric aciduria, a recently discovered inborn error of tryptophan-lysine metabolism, is reported. Development was normal during the first year of life. Signs of dyskinesia and dystonia associated with developmental regression occurred twice during gastrointestinal disease. By two years of age, a dystonic syndrome with a severe motor and language disability had resulted.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"397-404"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091535","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11782263","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091530
M Adinolfi, S A Haddad
{"title":"Levels of plasma proteins in human and rat fetal CSF and the development of the blood-CSF barrier.","authors":"M Adinolfi, S A Haddad","doi":"10.1055/s-0028-1091530","DOIUrl":"https://doi.org/10.1055/s-0028-1091530","url":null,"abstract":"<p><p>High levels of albumin, alpha-fetoprotein (AFP), IgG, prealbumin and transferrin have been detected in cerebro-spinal fluid (CSF) of human fetuses between 14 and 25 weeks old. The concentration of each plasma protein in CSF was found to vary during the gestational period in relation to its serum levels and rate of synthesis and as a consequence of a reduced permeability of the blood-CSF barrier after 22 weeks. In fact, the higher CSF levels of AFP were detected in fetuses about 16 weeks old, while the highest values of albumin were observed in CSF from fetuses between 20 and 24 weeks old. Experimental work has shown that also in rats the permeability of the blood-CSF barrier is incomplete during fetal and perinatal life. When 125I-labelled albumin and IgG or 14C-oestrogen and testosterone were injected intraperitoneally in newborn rats, the labelled proteins and hormones were detected in fetal blood and CSF four hours after the injection. These results are discussed in view of the suggestion that maternal abnormal states with regard to hormones and antibrain antibodies may affect the development of the nervous system and unfolding of behaviour.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"345-53"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091530","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11295718","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}
NeuropadiatriePub Date : 1977-11-01DOI: 10.1055/s-0028-1091540
B Köhler, T Tzonos, R Gustorf
{"title":"Artificial embolisation of inoperable dura and sinus angioma in an infant.","authors":"B Köhler, T Tzonos, R Gustorf","doi":"10.1055/s-0028-1091540","DOIUrl":"https://doi.org/10.1055/s-0028-1091540","url":null,"abstract":"<p><p>A seven month old boy suffered fron an inoperable extensive bilateral vascular malformation of the dura and the sinus system. This congenital lesion was artificially embolised in two sessions by injecting several hundred small steel spheres through the external carotid arteries. Clinical and neuroradiological reexaminations revealed a favourable result in this case. The technique and risks of this method which so far had not been applied in infants are demonstrated.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"8 4","pages":"451-8"},"PeriodicalIF":0.0,"publicationDate":"1977-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1091540","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11783008","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}