Neuropadiatrie最新文献

{"title":"Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family.","authors":"J B Krijgsman, P G Barth, F C Stam, J L Slooff, H H Jaspar","doi":"10.1055/s-2008-1071382","DOIUrl":"https://doi.org/10.1055/s-2008-1071382","url":null,"abstract":"A Dutch sibship is described consisting of a girl and a boy affected by the same disease. Both suffered from hydrocephalus and severe generalized weakness with death at 2 days and 4 months respectively. Full autopsy was done on the boy and this revealed a lissencephalic, partly polymicrogyric, neocortex, a bridge of grey matter linking the cerebral hemispheres before and over the lateral ventricles, neocortical dysplasia with subcortical neuronal heterotopic masses, generalized white matter gliosis, also involving the long fibre tracts and generalized vascular proliferation. The cerebellum showed generalized polymicrogyria. Also true hydrocephalus was found presumably related to a malformed aqueduct. Muscle biopsy revealed severe changes, consistent with congenital muscular dystrophy. Representative sections from the girls autopsy revealed an identical pattern of abnormalities. The described pattern fits descriptions of Fukuyama's cerebromuscular dystrophy.","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"108-20"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071382","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17943857","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":"Sanfilippo A disease in the fetus--comparison with pre- and postnatal cases.","authors":"C Ceuterick,&nbsp;J J Martin,&nbsp;J Libert,&nbsp;J P Farriaux","doi":"10.1055/s-2008-1071387","DOIUrl":"https://doi.org/10.1055/s-2008-1071387","url":null,"abstract":"<p><p>One fetus at risk for Sanfilippo A disease was found to be affected by assaying heparan sulfate sulfamidase in cultured amniotic cells, and, after abortion, in cultured skin fibroblasts. Morphologically, cells from placenta, visceral organs and fibroblasts contained large amounts of electron-lucent vacuoles. Limited amounts of inclusions with lamellar profiles were found in the neurons. As no similar lesions were discovered in control cases, their presence in this fetus was considered as significant, indicating an early involvement of the central nervous system. We compared our findings with those of other pre- and postnatal proven cases of Sanfilippo disease (mucopolysaccharidosis III).</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"176-85"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071387","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17830457","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":"Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva.","authors":"W R Den Tandt,&nbsp;J Jaeken","doi":"10.1055/s-2008-1071389","DOIUrl":"https://doi.org/10.1055/s-2008-1071389","url":null,"abstract":"Enzyme assays in tears have been used 1ate1y for the diagnosis and/or confirmation of disorders as fucosidosis (Libert et al. 1976), Fabry disease (DeI Monte et al. 1976, Libert et al. 1976), mannosidosis (Cotlier et al. 1976), and for the detection of the heterozygous and homozygous state of the TaySachs mutant gene (Carmody et al. 1973). Except for T ay-Sachs disease (Singer et al. 1973), enzyme assays in sa1iva have not been used for the detection of storage diseases. However, 1ysosoma1 enzymes such as glycosidases (Menguy et al. 1970), arylsu1phatase (Rinderknecht et al. 1970), and acid phosphatase (Beeley and Ghisholm 1976) have been determined previous1y in sa1iva for other purposes. Sa1iva was samp1ed from the oral cavity by suction using a p1astic microtip device and immediate1y transferred to a test tube kept at 0° C. Mechanica1 rotation of a metallic pin within the test tube 10wers the viscosity of the sa1iva sufficient1y to allow exact pipetting. The fo110wing enzymes were measured according to previous1y pub1ished methods with the amount of sa1iva in micro1iters indicated in parentheses: a-D-ga1actosidase (10), ß-D-ga1actosidase (50), a-D-mannosidase (10), ß-D-g1ucuronidase (20), ary1su1phatase A (200) (Baum et al. 1959, Den Tandt et al. 1973), N-acety1ß-D-g1ucosaminidase (10), N-acety1-ßD-ga1actosaminidase (10), ß-D-g1ucosidase (50), a-D-g1ucosidase (50), acid phosphatase (50) (Den T andt et al. 1974), and a-L-fucosidase (Martin et al. 1976). Centrifugation of sa1iva at 12,000 g during 30 minutes resu1ts in 10ss of activity ranging from a minimum of 10 % for N-acety1-ß-D-g1ucosaminidase to a maximum of almost 100 % for ß-D-g1ucosidase. For ary1su1phatase A and a-L-fucosidase approximate1y 30 % and 17 % respectively is lost after centrifugation.","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"189-90"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071389","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17942781","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":"[Cranial computerized tomography of neonatal encephalopathies. Initial and follow-up studies (author's transl)].","authors":"F Kotlarek,&nbsp;H Zeumer,&nbsp;H Hörnchen","doi":"10.1055/s-2008-1071383","DOIUrl":"https://doi.org/10.1055/s-2008-1071383","url":null,"abstract":"<p><p>60 premature and newborn infants with clinical evidence of hypoxia or traumatic encephalopathy were examined by cranial computerized tomography (CCT) during the first fortnight of life and their findings compared with those of a \"control group\", consisting of 7 infants with malformations. 48 patients showed pathologic findings in the initial CCT. With regard to type, topography and extension, two groups with two subgroups could be outlined: 1. lesions with low density due to hypoxic-necrotizing alterations. a) Bilateral in the white matter around the frontal and occipital horns of the lateral ventricles in both, premature and fullterm newborn infants. b) Corresponding to vascular distribution, focal or global, involving both gray and white matter in both, premature and newborn infants. 2. lesions with high density due to hemorrhages. a) Subependymal and intraventricular, mainly in asphyxiated premature infants. b) Subdural and intracerebral, probably of traumatic origin, involving premature and fullterm newborn infants. The morphological findings in the initial CCT were compared with the outcome in each case. Thus, it was possible to distinguish certain morphological patterns significantly associated with prognosis. 14 patients (23.3%) died in the newborn period. The surviving 46 children (76.7%) were at least once re-examined by CCT and followed up during 6-24 months. 16 patients (26.7%) had a normal development. 12 (20%) showed developmental retardation. 18 (30%) suffered from neurological sequela. Frequently the early follow-up CCT showed characteristic patterns. We believe, that the great number of pathologic findings with essential information warrant the application of CCT in premature and fullterm newborn infants with persistent neurological signs. Perhaps our CCT observations will lead to the consequence of a more controlled high care regimen.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"121-38"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071383","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17943858","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":"Influence of phenobarbital on the psychomotor development and behaviour in preschool children with convulsions.","authors":"B Hellström,&nbsp;M Barlach-Christoffersen","doi":"10.1055/s-2008-1071385","DOIUrl":"https://doi.org/10.1055/s-2008-1071385","url":null,"abstract":"<p><p>Eleven preschool children with febrile convulsions or epilepsy were started on phenobarbital. Before treatment was started and at regular intervals after the onset of medication up to one year psychological tests were applied and the behaviour of the children analyzed. The plasma levels of phenobarbital were recorded. A transient deterioration of fine motor functions and behavioural disturbances were found in most children during the first weeks and months. The problems subsided thereafter and at one year follow up the drug-induced changes had disappeared. The need for extended studies is underlined.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"151-60"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071385","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17942780","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":"Subdural effusions in children under two years--clinical and computer-tomographical data.","authors":"A Rothenberger,&nbsp;H Brandl","doi":"10.1055/s-2008-1071384","DOIUrl":"https://doi.org/10.1055/s-2008-1071384","url":null,"abstract":"<p><p>We investigated 161 children under 24 months of age by CT of the skull and reviewed the anamnestic and clinical history. 87 children showed subdural effusions, and 74 did not. There were 33 patients with other pathological findings in CT, and 41 had normal scans. Age and sex distribution as well as localization of the subdural effusions were consistent with the literature. The 87 children with subdural effusions represented 1.7% in a sample of about 5.000 CT scans. CT was the most reliable method for diagnosis of subdural effusions, compared to other techniques. There was a preponderance of small subdural effusions from 1 to 7 mm thickness (51%). Other CT abnormalities accompanying subdural effusions were found. Most frequently the interhemispheric sulcus was dilated and an internal hydrocephalus was present. Also in our group there were 7 anamnestical and 6 clinical symptoms highly diagnostic of subdural effusions.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"139-50"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071384","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17943859","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":"Use of the auditory brainstem responses by prematures and newborns infants.","authors":"P A Despland,&nbsp;R Galambos","doi":"10.1055/s-2008-1071381","DOIUrl":"https://doi.org/10.1055/s-2008-1071381","url":null,"abstract":"<p><p>The auditory brainstem response (ABR) yields information on both the neurological and the audiological status of infants, children and adults. We have developed a procedure for extracting each type of information for separate study and we have applied it on 120 prematures and babies (28 to 42 weeks gestation age) in an intensive care unit.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"99-107"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071381","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17942782","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":"Interference of cortisone and ACTH with brain development? A survey of experimental studies in mice and rats.","authors":"W K Baier","doi":"10.1055/s-2008-1071388","DOIUrl":"https://doi.org/10.1055/s-2008-1071388","url":null,"abstract":"Cortisone and/or ACTH represent a regular constituent of antiepileptic therapy in patients with West-syndrome. Because of its age predilection, histogenetically, if not mitotically still \"active\" brain tissues will be exposed to the hormonal effects. According to Lagenstein et al. (1979) ACTH and Cortisone, resp. may lead to reversible changes of brain macromorphology appearing like an internal and external atrophy. After discontinuation of treatment these findings obviously receded. Though real atrophie changes in the sense of tissue loss give no very plausible explanation to the findings mentioned, one should be careful in reducing steroid effects in this context to transient changes of hydratation as it might be suggested by the wellestablished positive results in states of brain edema (Brock 1978, Umlauf and Trappe 1979). During the last fifteen years aseries of experimental data concerning the influences of cortisone on brain development have been communicated. The purpose of the following survey is to suggest a discussion of this experimental work among epileptologists. A lot of more detailed research had to be neglected. Most instructive results have been presented by Evelyn Howard (1965, 1968). The author investigated the effects of neonatal food restrietion and neonatal corticosterone administration (dose range 0.08-0.6 mgld) on the development of brain and body weight, on cerebral RNA, DNA and cholesterol: corticosterone, given from the 3rd to the 7th day of life results in a reduction of body weight by one third as does severe food restrietion. In malnourished mice brain weight is lessened by one sixth, in steroidtreated by one third. The hormonal actions have been relatively less severe if steroids were administered from days 12 to 17. The smallest daily dose (0.08 mg) produced principally the same effects at a quantitatively slightly milder extent as the highest one (0.6 mg). Forebrain and hindbrain (save the cerebellum) have been equally effected. Normally, a steep increase of the cerebral RNA/ DNA ratio is registered between days","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"186-8"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071388","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17225967","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":"Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B.","authors":"U Burck,&nbsp;K Harzer,&nbsp;H H Goebel,&nbsp;K L Elze,&nbsp;K R Held,&nbsp;L Carstens","doi":"10.1055/s-2008-1071386","DOIUrl":"https://doi.org/10.1055/s-2008-1071386","url":null,"abstract":"<p><p>A 2 year-old non-Jewish boy had muscle hypertonia, a black cherry spot, dementia, and seizures. His skin biopsy showed membranous cytoplasmic bodies in axonal terminals and zebra body-like inclusions in Schwann cells. Biochemically, a deficiency of Hex A and two separate Hex B peaks indicated a type 1 (B variant, Tay Sachs) like subvariant of GM2-gangliosidosis.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 2","pages":"161-75"},"PeriodicalIF":0.0,"publicationDate":"1980-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071386","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17318980","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":"Complicated migraine (migraine accompagnée) in children. Clinical characteristics and course in 40 personal cases.","authors":"L N Rossi,&nbsp;M Mumenthaler,&nbsp;F Vassella","doi":"10.1055/s-2008-1071372","DOIUrl":"https://doi.org/10.1055/s-2008-1071372","url":null,"abstract":"<p><p>Forty cases of complicated migraine (c.m.) were analysed. The onset was before the age of 16 years, in the majority, however, after the 10th year. In 20 patients the first crisis of c.m. occurred in the absence of a previous history of migraine. 38 of the children had paresthesia during the crises, localized mostly to one hemisoma or a part thereof, in 3 bilateral from the beginning. In the majority of these patients the same hemisoma was always affected, the upper limb almost always. The preferred localisation of paresthesia in the face were the mouth and/or the tongue. A progression of paresthesia with a \"march\" of several minutes duration was frequent. In 5 children a paresis occurred, mostly at the upper part of one hemisoma, in another 4 children hemiplegia was present. In several cases signs of brainstem lesion occurred. Headache was mostly localized on the opposite side to the neurological signs. Vomiting and scotoma were frequent. In EEG done during the periods of crisis anomalies were demonstrated in the majority of our patients with a predominance of diffuse or focal slowing. In our patients there was a spontaneous tendency for c.m. to disappear upon reaching adult age. None of our 25 patients who had a neurological examination at the last check-up has shown residual deficits.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"11 1","pages":"27-35"},"PeriodicalIF":0.0,"publicationDate":"1980-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-2008-1071372","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17944820","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}