Hyper-endorphin syndrome in a child with necrotizing encephalomyelopathy.
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Biomedical subjects
Publications and source records attributed to S Brandt.
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The proposal by V. Vojta in 1974 to prevent development of cerebral palsy in "motor risk" infants by special treatment has been investigated in 11 Danish and 10 Swedish babies and compared with 30 control infants with similar risk, who were not given Vojta treatment. We found a tendency for "uncomplicated" cerebral palsy cases to accumulate in the control group, although the difference was non-significant on 1 5% level. Further controlled studies must be completed before it is possible to accept the prophylactive treatment of cerebral palsy recommended by Vojta.
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The clinical symptoms in a 10-year-old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl-CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.
In accordance with Paolo Freire learning is not only an intake of knowledge, but it is reflection of one's own life situation and finding of new solutions. The consequence for continuous education of people who run homes for the aged is that the process of learning has to be connected with the practical experience of the participants. The long termed course of continuous education for directors of homes for the aged therefore always starts with a definition of their tasks. That leads to a definition of learning goals, which will be approached by working out and following a planned schedule for the whole course.
A 6-plate element for isocaloric recording of cutaneous blood flow is described. Co-heating, penetrating depth and influence of a larger vessel simulated in a model were examined. The 6-plate element is less influenced by inhomogenous and anisotropic blood flow than the conventional 2-plate element and thus particularly suitable for routine measurements and repeated applications.
In two siblings with dystonic cerebral palsy the urinary metabolic profiles of organic acids were dominated by glutaric acid, a metabolite not normally present in urine. The exretion of glutaric acid amounted to several grams per day. The urinary excretion of beta-OH-glutaric acid and glutaconic acid was also enhanced. Imparied metabolism of glutaryl-CoA by leukocytes indicates that the patients suffer from an inborn error of lysine, tryptophan, and hydroxylysine metabolism. A defective oxidation of glutaryl-CoA to crotonyl-CoA, probably due to a deficiency of glutaryl-CoA dehydrogenase, is consistent with these findings.
The syndrome of progressive aphasia and epilepsy in childhood is delineated. Four cases are presented, three of which show the typical gradual onset, fluctuating course and EEG changes with bilateral foci of spike and spike-wave activity, and, finally, normalization after some years of the EEG. Also the aphasia tends to subside, but often with considerable delay in relation to the other features. Neuropsychological assessment showed varying residual defects mainly on language functions. The aetiology is unknown. No pathoanatomical data on this disorder has hitherto been published. In one of the present cases a cortical biopsy was performed on suspicion of a left temporal tumour. The biopsy showed changes indicative of a slow virus infection. It is therefore suggested that the newly established language function in children particularly is vulnerable to a subchronic viral encephalitis affecting both hemispheres.
Two children are reported, who became diseased at the age of 4 and 2 years, respectively, with progressive upper motor neuron symptoms leading to severe disability within a few years. The boy died at age 10 and autopsy disclosed a severe gangliolipidosis throughout the central nervous system, maximal in the brain stem and cerebrellum, corresponding with his early and dominantly bublar symptoms. The girl is still living, although severly disabled. The etiology was confirmed through biochemical studies which showed lower activity of galactosaminidase and galactosidase in frontal lobe tissue from the boy, in liver tissue from the girl. The activity of galactosaminidase A isoenzyme was more than 50 per cent lower in serum from the girl and in serum from healthy relatives of the boy, the father, mother and one of two brothers. Furthermore, the galactosidease activity was within or below the lower normal range limit in leucocytes from relatives of the boy with exception of the father. This abnormality was also encountered in serum from our girl patient.
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With our methods IgM, 7Sgamma1 and C3 were detected in the egg-induced liver granulomata of 8-week infections of CF1 mice by Schistosoma mansoni. It is speculated that, in addition to sequestration of antigens within these lesions by these antibodies, 7Sgamma1 may be associated with the Hoeppli phenomenon, and IgM in combination with C3 may be responsible for the ultimate death of the embryo or miracidium within the egg shell.